What Are The Most Likely Modes Of Inheritance Of Nail-patella And Alkaptonuria
Alpa Southward. Patel, Yard.D., David Plemel, Md, Jennifer I Lim Doc, Brad H. Feldman, M.D., Vinay A. Shah M.D., Allison R. Loh, Dr., Natario Linard Couser, Medico, Cat Nguyen Burkat, Dr. FACS
Assigned condition Update Awaiting
by Allison R. Loh, Medico on Dec 11, 2020.
Introduction
The ophthalmologist's part in the management and diagnosis of genetic disorders can be critical for patients, families and referring providers in the steadily advancing field of genetics. Genetic testing can exist a useful medical tool in ophthalmology to help confirm or dominion out a suspected inherited ocular disorder, provide important data of inheritance patterns and run a risk of recurrences for families, and assist guide clinical management, advisable referral and surveillance decisions. Furthermore, genetic testing may also provide a societal do good in improving the understanding of genes, genetic diseases, and time to come treatments.
Testing offered may exist clinical or research-based, and may be carried out in the prenatal catamenia, as office of the newborn screening, used to determine carrier condition, or can be used for diagnostic purposes. Common genetic tests used to confirm or brand a diagnosis include, but are not limited to, chromosomal karyotype or microarray, fluorescence in situ hybridization (FISH) and sequencing. (See Section 2 and Section3/Table 1)[i] [2] [three] [4] Advances in our knowledge of both genetic disease and diagnostic technological capabilities continues to exponentially improve, however, there are nonetheless many limitations in each of the bachelor genetic diagnostic testing modalities. In improver, the ethical concerns and psychosocial impact of the genetic test results can be substantial for the patient being tested, the family members, and for the clinician and medical team involved.[5] Financial burdens besides be, every bit costs can range from hundreds to thousands of dollars for a unmarried test. Many insurance carriers now take guidelines in place to determine medical necessity that generally include examining the clinical validity of the genetic exam being requested, the clinical signs and symptoms nowadays, the risk involved for the disease of business based on family history, and how the result from the examination will ultimately affect the medical management.[6]
Tests results may return as positive indicating a change in the expanse of interest, negative indicating there was no alter constitute, or as a variant of uncertain significance (VUS) indicating a alter has been institute but that the significance of this change is not well understood. Therefore both the conclusion to undergo testing and the interpretation of the results are complex entities and should involve trained individuals with an expertise in this surface area and knowledge of genetic counseling. Genetic testing is more often than not performed by a geneticist or a genetic counselor, or ordered in consultation with them.
Recommendations for genetic testing include 1) to test for a disorder for which the causative genes have been identified, 2) use a Clinical Laboratories Improvement Amendments (CLIA) approved laboratory, iii) order the nigh specific exam and avoid unnecessary parallel testing, iv) avoid testing for genetically complex disorders for which no treatment or surveillance guidelines be, and five) avoid genetic testing in asymptomatic minors when involving untreatable disorders except in rare circumstances.[7] Several genetic terms and resources are listed equally follows to assistance in managing the numerous and steadily growing list of ocular inherited diseases. (See Section 2 and 4)[1] [2] [3] [iv] [eight]
Additionally, the phenotypes of many ophthalmic genetic conditions accept been well characterized, and the ophthalmic exam may offering important data in detecting the underlying genetic disorder. Presented in the following sections are reported eye features, inheritance patterns, known associated gene or chromosomal abnormality, and MIM reference number for selected genetic diseases.[9] [10] [11] [1] [12] [13] [14] [xv] [16] [17] [18].
Definitions of Common Genetic Terms
| TERM | DEFINITION |
|---|---|
| Adeno-associated virus (AAV) vectors | Vectors derived from adeno-associated viruses, and the nigh frequently used delivery systems in ocular gene therapy. |
| Alleles | A variant of a gene located at a certain locus. |
| Amino acid sequence | Refers to the lodge of amino acids in a polypeptide chain. |
| Amino acids | A class of biological molecules characterized by an amine and carboxylic group along with a detail functional grouping. They are the main building blocks of proteins and have other of import biological functions. |
| Aneuploidy | The state in which one or more actress or missing chromosomes is detected. |
| Bibelot | An anatomical departure from the phenotype present in the reference population. |
| Association | Unrelated pattern of anomalies in occurrence more frequently than expected by gamble. |
| Autosome | A chromosome that is numbered and not considered a sexual activity chromosome. |
| Autosomal dominant inheritance | An inheritance blueprint in which only 1 copy of a detail autosomal chromosome is needed in order to produce the effects that the inherited chromosome presents with. |
| Autosomal recessive inheritance | An inheritance pattern in which two copies of a particular autosomal chromosome is needed in order to produce the effects of those item inherited chromosomes. |
| Carrier testing | A form of genetic testing used on individuals that may not present with any genetic disorder just are at risk of passing down the a trait due to being a carrier. This usually relates to existence a carrier of an abnormal autosomal recessive or Ten-linked disorder. |
| Central dogma of Molecular Biological science | Describes the menstruum of genetic material in that Deoxyribonucleic acid encodes for RNA (transcription), which in plough then encodes for proteins (translation). Exceptions to the classic dogma are now known to be. |
| Chromosomal Karyotype | A photographic representation of an individual cell's chromosomes that is used to analyze the number and structure of the chromosomes. |
| Chromosomal Microarray | Evaluates the genome in a loftier resolution by utilizing arrayed pocket-size Deoxyribonucleic acid pieces to provide a locus by locus measurement of DNA copy number variation at numerous loci simultaneously. |
| Chromosome | An organized and packed structure of DNA, RNA, and proteins located inside a cell. |
| Chromosome Translocation | An abnormality that involves the substitution of genetic material of non-homologous chromosomes. Translocations can involve the commutation of equal amounts of material (counterbalanced) or involved additional or missing fabric (unbalanced). |
| Clinical genetic testing | Genetic testing performed to find data for the patient and family involved. |
| Clinical Laboratory Improvement Amendments (CLIA) | Laboratory testing U.S. federal regulatory standards that was showtime established in 1988 that requires certification for any lab prior to performing clinical diagnostic testing on human samples. The Center for Disease Control (CDC), Heart for Medicaid Services (CMS), and the Food and Drug Administration (FDA) play a function in the function of CLIA. |
| Cloning | A process that consists of creating identical copies of Dna, a cell, or an organism. |
| Consanguinity | Used to describe genetic relatedness betwixt individuals due to a mutual ancestor of origin. |
| Consultand | The person in the family that presents for a genetic counseling evaluation regarding a known or potential inherited status. |
| De novo (desultory) mutation | An contradistinct cistron that appears in the germline or fertilized egg that was not manifested in the family lineage, particular both of the parents. |
| Deletion | Modify in the DNA sequence involving a portion of the Dna being removed. |
| Deoxyribonucleic acid (Deoxyribonucleic acid) | A biological molecule, double stranded, that encodes the genetic data of an organism. |
| Direct-to-consumer genetic testing | Genetic testing marketed and sold directly to consumers without the involvement of healthcare professionals. |
| Direct-to-consumer genetic testing through physician | Genetic testing marketed directly to consumers and physicians, and requires the dr. to order the test. |
| Illness | Condition involving aberrant cognitive or physical function. |
| Duplication | Change in the Dna sequence involving an extra copy or copies of a portion of the Deoxyribonucleic acid. |
| Exome | The part of the genome that corresponds to the complete set of exons. |
| Exons | Sequences in the Deoxyribonucleic acid that corresponds to protein coding regions. |
| Fluorescence in situ hybridization (FISH) | Uses a targeted approach to clarify a specific sequence of a chromosome. The technique consists of using a specific probe DNA that is labeled and is hybridized to a sample DNA of interest. Recording of the labeled hybridization, or lack of, can so exist analyzed. |
| Frameshift mutation | Change in the Deoxyribonucleic acid sequence, either an insertion or deletion, not a multiple of three, which causes a shift in the reading frame. |
| Genes | A sequence of Deoxyribonucleic acid that corresponds to a unit of hereditary information, usually coding for a protein. |
| Gene therapy | The experimental process of inserting genes for the purpose of treatment. |
| Genetic counselor | A health professional person specialized in the area of genetics and counseling about diverse genetic data to individuals. |
| Genetic Information Nondiscrimination Deed (GINA) | Legislation passed by the US Congress that prohibits employers and health insurance agencies from using genetic data in decisions. |
| Geneticist | An individual specialized in the report of genetics, which is composed of genes, heredity, and variation. |
| Genome browser | An online site that comprise a collection of genomic data data. |
| Genome-broad association study (GWAS) | A technique that is used to report genetic markers beyond complete sets of DNA in different people in order to observe genetic variation in a item trait. |
| Genotype | The genetic makeup of an private normally referring to a specific set of alleles or traits. |
| Germinal mutation | A change in the Deoxyribonucleic acid sequence in the germline, and therefore tin can be passed on to the next generation. |
| Germline | The cell line in which the gametes are formed from. |
| Hemizygosity | State when only one copy of a factor is nowadays in a diploid cell. |
| Man genome project | An international research study that sequenced the entire human genome and determined the genes that are encoded. |
| Incomplete penetrance | Refers to the presence of a cistron change that is non phenotypically expressed in some individuals, just is expressed in others. |
| Insertion | Change in the DNA sequence involving an additional corporeality of Deoxyribonucleic acid added in a new location. |
| Introns | Non-coding sequence found in DNA that is commonly excised earlier translation. |
| Loss of heterozygosity (LOH) | Presence of only one copy of an allele such equally due to a loss of a portion of a chromosome inside a tumor tissue. |
| Malformation | A non-progressive congenital anomaly. |
| Massively parallel sequencing | Loftier-throughput DNA sequencing that allows for numerous strands of DNA to be sequenced in a parallel mode. Likewise called next-generation sequencing. |
| Meiosis | A form of prison cell sectionalisation consisting of two nuclear division of a diploid resulting in the germination of haploid gametes. |
| Mendelian genetics | Genetics inheritance blueprint proposed past Gregor Mendel that is composed of iii main laws. The Law of Segregation states that allele segregation results in one allele per gamete. The Law of Independent Assortment states genes from different traits segregate independently. Law of Dominance states that alleles may be ascendant or recessive and ascendant alleles overshadow recessive alleles. |
| Missense mutation | Change in the DNA sequence involving a single base pair which causes an amino acrid beingness substituted for another. |
| Mitochondrial inheritance | A course of inheritance from the genetic material located within the mitochondria. This form of inheritance is maternal and is ever inherited due to beingness part of the ovum. |
| Mitosis | A form of cell partition in which somatic cells produce identical girl cells. |
| Mosaicism | The presence of two or more cell populations that differ in their chromosomal genotype. |
| Multifactorial inheritance | A combination of various genetic and environmental factors that contribute to the development of a trait. |
| Mutation | A alter in the DNA sequence of a gene. |
| Newborn screening | Testing performed on newborn babies to discover for a wide variety of disorders. |
| Nonsense mutation | Change in the DNA sequence involving a single base pair that results in a premature stop codon, which leads to a shortened protein. |
| Nucleic acid sequence | Refers to the arrangement of letters that brand up the nucleotide order in RNA and DNA. |
| Nucleotide | A nitrogenous base of operations fastened to a phosphate grouping and a pentose sugar molecule. A ribonucleotide, chief unit of RNA, is composed of a phosphate group, a ribose sugar, and a nitrogenous base (Adenine(A), Cytosine (C), Guanine (K), or Uracil (U)). A deoxyribonucleotide, principal unit of measurement in Dna, is composed of a phosphate grouping, deoxyribose saccharide, and a nitrogenous base (Adenine (A), Cytosine (C), Guanine (Yard), or Thymine (T)). |
| Obligate carrier | Individual that must be a carrier of the genetic mutation of concern based on the known disorder inheritance pattern and family history obtained. |
| Ovum | A mature female haploid gamete. |
| Panel tests | Used in order to appraise for mutations in multiple genes. |
| Pedigree | A genetic representation of a family lineage that demonstrates various inheritance patterns in the family unit tree. |
| Personalized medicine | A form of medical practice that uses an individual’s genetic makeup to guide handling. |
| Pharmacogenetics | A branch of pharmacology that studies the genetics responses to drug treatments. |
| Phenotype | The appreciable concrete representation of an expressed cistron. |
| Polymerase concatenation reaction (PCR) | Technique that allows a short sequence of DNA or RNA to exist amplified. |
| Proband | An individual that is being studied on in genetics studies. Usually refers to the get-go afflicted family fellow member with a genetic disorder or trait that begins the study of the family unit. |
| Proteins | A class of biological molecules that are composed of chains of amino acids. |
| Reflex testing | Automatic subsequent testing that takes place after an initial testing result. |
| Echo expansion | Modify in the Deoxyribonucleic acid sequence involving sequent repeated portions of short amounts of Deoxyribonucleic acid. |
| Research genetic testing | Genetic testing performed as part of a research study to advance our knowledge of agreement genetic diseases, genes, and testing methods which may or may not provide firsthand beneficial information to the patient or family involved. |
| Ribonucleic acid (RNA) | Biological macromolecule, unmarried stranded, which primarily conveys information from DNA to control poly peptide synthesis. |
| Sanger (dideoxy) sequencing | A technique for Dna sequence assay that utilizes dideoxy nucleotides that will terminate the growing chain. |
| Sequencing | The process of determining the sequence of a function of the genome. |
| Silent mutation | Modify in the DNA sequence that does not actually change the protein sequence. |
| Unmarried cistron tests | Analyzes a single factor in a sample Dna of involvement in order to make up one's mind any abnormalities or absence of that single gene. |
| Single nucleotide polymorphism (SNP) | A form of DNA sequence variation in which a single nucleotide differs in a particular genome location in two or more than members of a population. |
| Somatic | Any jail cell of the body excluding the gametes. |
| Somatic mutation | A change in the DNA that occurs subsequently the conception period, therefore not passed on to the next generation. |
| Sperm | A male reproductive cell used in fertilization. |
| Splice site mutation | Change in the Dna sequence involves the location where intron splicing occurs. |
| Substitution | Modify in the DNA sequence that replaces 1 base for another base. |
| Syndrome | Causally related pattern of anomalies. |
| Uniparental disomy | A genetic inheritance situation in which both members of a chromosomal pair or both segments of chromosome are inherited from one parent and neither is inherited from the other parent. |
| Variant of uncertain significance (VUS) | A variation in a gene sequence in which the association of the variation with whatsoever disease is unknown. |
| Whole Exome Sequencing | A technique used to clarify the unabridged coding sequence, exons, of a DNA sample of interest. The DNA sample is compared to a control sample past detecting any changes in nucleotide sequences. |
| Whole Genome Sequencing | A technique that determines the entire Deoxyribonucleic acid sequence in a genome. |
| X-linked ascendant inheritance | A form of inheritance in which a dominant gene is carried on an 10 chromosome and is expressed with only 1 copy necessary. |
| Ten-linked recessive inheritance | A form of inheritance in which a recessive factor is carried on an Ten chromosome. But requires 1 re-create to be expressed in a male and two copies to be expressed in a female person. |
| Zygote | A diploid cell formed from the fusion of a sperm cell and an ovum. |
Table1. Comparing of Selected Genetic Tests
Genetic Resource
| SITE HEADING | Clarification | WEBSITE URL |
|---|---|---|
| American University of Ophthalmology (AAO) Recommendations for Genetic Testing of Inherited Centre Diseases | AAO task force's 2014 recommendations for ophthalmic genetic testing. | https://www.aao.org/clinical-statement/recommendations-genetic-testing-of-inherited-middle-d |
| American Board of Genetic Counseling | The organization in accuse of giving credential certification in the field of genetic counseling in the United States and Canada. | https://www.abgc.cyberspace/ |
| American College of Medical Genetics | An arrangement composed of various individuals with specializations in genetics focused on the practice of medical genetics. | https://www.acmg.net/ |
| American Society of Homo Genetics | Professional organization for specialist in human genetics. | http://www.ashg.org/ |
| Atlas of Genetics and Cytogenetics in Oncology and Haematology | Online encyclopedia and database atlas of genes, cytogenetics and cancer diseases that includes an overview of heart tumors | http://atlasgeneticsoncology.org//Tumors/EyeTumOverviewID5272.html |
| Children's Craniofacial Association | Educational resource and patient back up for craniofacial syndromes | http://www.ccakids.com/ |
| ClinicalTrials.gov | A database that contains clinical studies of human participants from effectually the world. | http://world wide web.clinicaltrials.gov/ |
| FACE2GENE by FDNA | A search and reference application that utilizes Facial Dysmorphology Novel Analysis (FDNA®) technology to detect dysmorphic features from facial photos | http://www.fdna.com/ |
| GeneCards | Comprehensive database containing data on known and predicted man genes. | http://world wide web.genecards.org/ |
| GeneReviews | Publications consisting of standardized and clinical data for the diagnoses, management, and treatment of patients with inherited conditions. | http://www.ncbi.nlm.nih.gov/books/NBK1116/advanced/ |
| Gene Tests | Information about clinical and research testing for genes. | https://world wide web.genetests.org/ |
| Genetic Alliance | Nonprofit health advocacy group with a network of over 1,200 disease advocacy organizations that has a focus of promoting wellness in genetic inquiry and technology. | http://www.geneticalliance.org/ |
| Genetic and Rare Affliction Information Center (GARD) | A database that is role of the NIH that provides useful information about genetic and rare diseases. | http://rarediseases.info.nih.gov/gard |
| Genetics Dwelling Reference | A website that provides data about genetic variations. | http://ghr.nlm.nih.gov/ |
| Geneva Foundation for Medical Education and Research (GFMER) Atlas of Developmental and Genetic Diseases | Atlas of developmental and genetic heart diseases. | http://www.gfmer.ch/Books/Atlas_genetics_ophtalmology.htm |
| Hereditary Ocular Disease, Academy of Arizona | A database of hereditary ocular diseases for patients and clinicians. | http://disorders.eyes.arizona.edu/ |
| HUGO Factor Nomenclature Committee (HGNC) | Authority that assigns the nomenclature standards for human genes. | http://www.genenames.org/ |
| Human Genome Variation Society (HGVS) | Maintains genomic variation data and nomenclature data on sequence variants. | http://www.hgvs.org/ |
| Man Phenotype Ontology | Ontology of human phenotypic abnormalities. | http://world wide web.homo-phenotype-ontology.org/ |
| International Society for Genetic Middle Diseases & Retinoblastoma (ISGEDR) | Professional organization with a goal of promoting shared information, collaborations and the dissemination of scientific knowledge of genetic diseases of the eye and in retinoblastoma. | http://isgedr.org/ |
| London Ophthalmic Genetics Database (GENEEYE) | Comprehensive database and prototype library of genetic ophthalmic conditions. | http://lmdatabases.com/about_lmd.html |
| MedGen | Published material related to human medical genetics. | http://www.ncbi.nlm.nih.gov/medgen/ |
| My Family unit Health Portrait | Tool used to create a family unit health history. | https://phgkb.cdc.gov/FHH/html/index.html |
| National Center for Biotechnology Information (NCBI) | Formed every bit a division of the National Library of Medicine in 1988, which now serves as a primal hub for providing numerous databases, tools and educational resources of biomedical information. | http://www.ncbi.nlm.nih.gov/ |
| National Centre for Didactics in Maternal and Child Health'southward MCH Library | Online database that provides information and resources for maternal and child health. | http://www.mchlibrary.info/ |
| National Human Genome Research Found Glossary | Contains terms and concepts used in the study of genetics for the public. | http://www.genome.gov/Glossary/ |
| National Institutes of Health Genetic Testing Registry (GTR) | Serves every bit a centralized location for providers to submit genetic examination information. | http://www.ncbi.nlm.nih.gov/gtr/ |
| National Newborn Screening & Global Resource Center (NNSGRC) | Contains information on newborn screening, country contacts, general resources, and provides information sheets that describes the proper steps to follow after receiving a screening report | http://genes-r-us.uthscsa.edu/resources.htm |
| National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE) | National Centre Institute research initiative allowing researchers access to DNA samples, clinical data, and patients interested in research. | https://world wide web.nei.nih.gov/eyegene/ |
| National Organization for Rare Disorders (NORD) | An organization that provides support to those with rare disease by providing funding, research, educational activity, and networking. | http://www.rarediseases.org/ |
| National Society of Genetic Counselors | An organization composed of trained genetic counselors and other health professionals dedicated to the promotion of genetic counseling. | http://www.nsgc.org/ |
| OMIM(Online Mendelian Inheritance in Human being) | A database of homo genes and genetic phenotypes. | http://www.omim.org/ |
| Orphanet | Provides information about rare diseases and treatments. | http://www.orpha.net/consor/cgi-bin/index.php |
| Pedigree Nomenclature | A standard used in the blueprint of pedigrees to provide consistent information to enquiry and health professionals as well as those in training. | http://www.ncbi.nlm.nih.gov/pubmed/18792771 (Bennett RL et al, Standardized human pedigree nomenclature: update and cess of the recommendations of the National Order of Genetic Counselors, J Genet Couns. 2008 Oct;17(5):424-33, doi: 10.1007/s10897-008-9169-9. Epub 2008 Sep xvi) |
| PubMed | United states of america National Library of Medicine (NLM) service that provides a search engine database of biomedical and life sciences literature citations; developed by the National Eye for Biotechnology Information (NCBI). | http://www.ncbi.nlm.nih.gov/pubmed |
| Unique | Provides resources and support for families of children that have rare chromosome disorders | http://www.rarechromo.org/html/home.asp |
Genetic Disorders A-Z
| DISORDER | EYE FINDING | Fashion OF INHERITANCE | KNOWN GENES OR CHROMOSOMAL Abnormality INVOLVED | MIM SYMBOL & NUMBER REFERENCE |
|---|---|---|---|---|
| ABETALIPOPROTEINEMIA (BASSEN-KORNZWEIG SYNDROME) | Retinopathy | AR | MTP | #200100 |
| ACHROMATOPSIA | Photophobia, twenty-four hour period blindness, nystagmus, colorblindness, myopia | AR | CNGA3, CNGB3 | #216900, #262300 |
| AICARDI SYNDROME | Chorioretinal lacunae, retinal disengagement, cataract, nystagmus, optic nerve atrophy, optic nervus coloboma, microphthalmia, sparse lateral eyebrows | XLD | - | %304050 |
| ALAGILLE SYNDROME | Posterior embryotoxin, deep-set eyes, hypertelorism, upslanting palpebral fissures, ectopic pupils, chorioretinal atrophy, ring keratopathy, cataracts, retinal pigment clumping, axenfeld anomaly, anomalous optic disc, myopia, strabismus, choroidal folds, microcornea | Advertizement; 50-70% de novo | JAG1, NOTCH2 | #118450 |
| ALKAPTONURIA | Pigmented sclera | AR | HGD | #203500 |
| ALLAN-HERNDON-DUDLEY SYNDROME | Nystagmus, disconjugate middle movements | XLD | SLC16A2 | #300523 |
| ALPERS SYNDROME | Cortical incomprehension, aberrant visual evoked potential | AR | POLG | #203700 |
| ALPORT SYNDROME | Cataracts, anterior lenticonus, myopia, retinal pigmentary changes | XLD, AR | COL4A5, COL4A4, COL4A3 | #301050, #203780 |
| ALSTROM SYNDROME | Cone-rod dystrophy, photophobia, nystagmus, cataracts | AR | ALMS1 | #203800 |
| ANGELMAN SYNDROME | Refractive errors, strabismus, ocular hypopigmentation | Isolated cases | UBE3A, CDKL5, MECP2 | #105830 |
| ANIRIDIA | Cataract, glaucoma, Peter’s anomaly, corneal clouding | Ad | PAX6, ELP4 | #106210 |
| Inductive SEGMENT MESENCHYMAL DYSGENESIS | Cataract, corneal opacity, dysgenesis of ocular anterior segment | AD | FOXE3,PITX3 | #107250 |
| APERT SYNDROME | Shallow orbits, proptosis, hypertelorism, downslanting palpebral fissures | Advertisement | FGFR2 | #101200 |
| ARIMA SYNDROME | Chorioretinal coloboma, retinal dystrophy, nystagmus, abnormal eye movements, blepharoptosis, extinguished electroretinogram | AR | - | %243910 |
| ARMFIELD X-LINKED MENTAL RETARDATION SYNDROME | Cataracts, Glaucoma, Strabismus | XLR | - | %300261 |
| ARTS SYNDROME (MENTAL RETARDATION, X-LINKED, SYNDROMIC xviii) | Optic atrophy, nystagmus | XLR | PRPS1 | #301835 |
| Clutter-OCULOMOTOR APRAXIA SYNDROME | Oculomotor apaxia, nystamus, hypometric saccades, external ophthalmoplegia | AR | APTX | - |
| ATAXIA TELANGIECTASIA (LOUIS-BAR SYNDROME) | Oculomotor abnormalities | AR | ATM | #208900 |
| AUTOSOMAL Ascendant CEREBELLAR ATAXIA DEAFNESS AND NARCOLEPSY (ADCADN) | Optic atrophy | AD | DNMT1 | #604121 |
| AVELLINO CORNEAL DYSTROPHY (COMBINED GRANULAR-LATTICE CORNEAL DYSTROPHY) | Hyaline changes in anterior stroma, fusiform amyloid deposits in deeper stroma | Advertizing | TGFBI | #607541 |
| AXENFELD-RIEGER SYNDROME | Prominent Schwalbe line, iris dysplasia, iris strands, corectopia, polycoria, glaucoma, strabismus, hypertelorism, telecanthus | AD | PITX2, FOXC1 | #180500, %601499, #602482 |
| BARAITSER-WINTER SYNDROME i | Coloboma, epicanthal folds, hypertelorism, ptosis | AD | ACTB | #243310 |
| BARDET BIEDL SYNDROME | Retinitis degeneration, cataracts, strabismus | AR | Numerous | Multiple |
| BASAL CELL NEVUS SYNDROME | Strabismus, glaucoma, iris coloboma, hypertelorism | Ad | PTCH1, PTCH2, SUFU | #109400 |
| BEARE-STEVENSON SYNDROME | Proptosis, hypertelorism, downslanting palpebral fissures | Advertisement | FGFR2 | #123790 |
| BECKWITH-WIEDEMANN SYNDROME | Deep-set eyes, hypertelorism, epicanthal folds, downslanting palpebral fissures, synophrys | Advertizing, sporadic (majority of cases) | NSD1, H19, KCNQ1OT1, CDKN1C | #130650 |
| BEST MACULAR DYSTROPHY | Yellow pigmented macular lesion, cystoid macular degeneration | AD | BEST1 | #153700 |
| BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY | Retinal degeneration, choroidal vessel sclerosis, crystalline corneal deposits, marginal corneal dystrophy, night blindness | AR | CYP4V2 | #210370 |
| BLAU SYNDROME | Uveitis, choroiditis, macular and optic disc edema, band keratopathy, cataracts, glaucoma | AD | NOD2 | #186580 |
| BLEPHAROPHIMOSIS, PTOSIS, and EPICANTHUS INVERSUS (BPES) | Blepharophimosis, ptosis, epicanthus inversus, telecanthus, microphthalmia, microcornea, strabismus, hypermetropia, nystagmus, pronounced convex biconvex eyebrows | AD (l% de novo) | FOXL2 | #110100 |
| Blue-CONE MONOCHROMACY | Blue cone type colorblindness, photophobia, nystagmus, myopia, macular pigment epithelial changes | XLR | OPN1LW, OPN1MW #303700 | |
| BRANCHIOOTORENAL SYNDROME | Eyes absent, lacrimal duct aplasia | AD | EYA1, SIX1, SIX5 | #113650 |
| CANTU SYNDROME | Epicanthal folds, long eyelashes | AD | ABCC9 | #239850 |
| Cognitive-CEREBELLAR-COLOBOMA SYNDROME | Chorioretinal coloboma | XLR | - | 300864 |
| CEREBROOCULOFACIOSKELETAL SYNDROME | Cataracts, blepharophimosis, microphthalmia, nystagmus, deep-set eyes | AR | ERCC6 | #214150 |
| CEREBROOCULONASAL SYNDROME | Anophthalmia, Sparse eyebrows and eyelashes, hypertelorism, epicanthal folds | AD | - | %605627 |
| CEREBROTENDINOUS XANTHOMATOSIS | Cataracts | AR | CYP27A1 | #213700 |
| CHARCOT-MARIE-TOOTH DISEASE | Glaucoma, deadening pupillary reaction, nystagmus, optic nerve atrophy | Advert, AR, XLD | Numerous | Multiple |
| Charge SYNDROME | Anophthalmia, microphthalmia, ptosis, hypertelorism, downslanting palpebral fissures, coloboma in iris, oprtic nerve, retina | Ad | CHD7, SEMA3E | #214800 |
| CHEDIAK-HIGASHI SYNDROME | Decreased iris pigmentation, nystagmus, photophobia, strabismus, macular hypoplasia | AR | CHS1 | #214500 |
| CHERUBISM | Proptosis, world displacement, lower eyelid retraction, optic neuropathy, striae of macula, marcus-gunn pupil | Advert | SH3BP2 | #118400 |
| CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA | Microphthalmia | XLD | HDAC6 | #300863 |
| CHOROIDEREMIA | Choroidoretinal degeneration, night blindness, visual field constriction | XLD | CHM | #303100 |
| CHRISTIAN SYNDROME | Cranial nerve VI palsy | Ten-linked | - | %309620 |
| CHRISTIANSON SYNDROME | Ophthalmoplegia, deep-gear up optics, bushy eyebrows | XLD | SLC9A6 | #300243 |
| CK SYNDROME | Strabismus, epicanthal folds, upslanting palpebral fissures, almond-shaped eyes | XLR | NSDHL | #300831 |
| COCKAYNE SYNDROME | Pigmentary retinopathy, cataracts, nystagmus, strabismus, optic atrophy, hyperopia, corneal opacity, decreased lacrimation, microphthalmos, iris hypoplasia | AR | ERCC6, ERCC8 | #216400, #133540 |
| COLORBLINDNESS, DEUTAN | Green colorblindness | 10-linked | OPN1MW | #303800 |
| COLORBLINDNESS, PROTAN | Blood-red colorblindness | Ten-linked | OPN1LW | #303900 |
| COLORBLINDNESS, TRITANOPIC | Abnormal blue and yellow vision | AD | OPN1SW | #190900 |
| CONE-ROD DYSTROPHY | Dyschromatopsia, photophobia, nystagmus, maculopathy, progression to nighttime blindness later | Advertisement, AR, Ten-linked | Numerous | Multiple |
| CONGENITAL DISORDER OF GLYCOSYLATION | Retinitis pigmentosa, nystagmus, strabismus | AR, X-linked | Numerous | Multiple |
| CONGENTIAL FIBROSIS OF EXTRAOCULAR MUSCLES | Ptosis, ophthalmoplegia | AD, AR | KIF21A, PHOX2A, ARIX, TUBB3 | #135700, #602078, #600638 |
| CONGENITAL NYSTAGMUS | Pendular and horizontal nystagmus, head turn, strabismus | AD, AR, Ten-linked | Numerous | Multiple |
| Congenital STATIONARY NIGHT Blindness | Night blindness, myopia | AD, AR, X-linked | Numerous | Multiple |
| CORNEA PLANA | Hyperopia, hazy corneal limbus, corneal opacities, thin cornea | AR | KERA | #217300 |
| CORNELIA DE LANGE SYNDROME | Myopia, ptosis, synophrys, long eyelashes, hypertelorism, telecanthus, hooding of eyelids | AD, X-linked | SMC1A, HDAC8, numerous others | Multiple |
| CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | Coloboma, downslanting palpebral fissures | XLR | IGBP1 | #300472 |
| COSTEFF SYNDROME | Optic cloudburst | AR | OPA3 | - |
| CRIGLER-NAJJAR | GILBERT SYNDROME Jaundice | AR | UGT1A1 | #218800, #606785 |
| CROUZON SYNDROME | Shallow orbits, proptosis, strabismus, hypertelorism, optic atrophy | Advertisement | FGFR2 | #123500 |
| CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (CROUZONODERMOSKELETAL SYNDROME) | Shallow orbits, proptosis, strabismus, hypertelorism, optic atrophy | AD | FGFR3 | #612247 |
| CUTIS LAXA, DEBRE TYPE | Strabismus, myopia, downslanting palpebral fissures | AR | ATP6V0A2 | #219200 |
| CYSTINOSIS | Photophobia, corneal and conjunctival crystals, retinopathy, recurrent corneal erosions | AR | CTNS | #219750, #219800 |
Diseases D-F
| DISORDER | Heart FINDING | Style OF INHERITANCE | KNOWN GENES OR CHROMOSOMAL Abnormality INVOLVED | MIM SYMBOL & NUMBER REFERENCE |
|---|---|---|---|---|
| DELLEMAN SYNDROME (OCULOCEREBROCUTANEOUS SYNDROME) | Anophthalmia, microphthalmia, eyelid coloboma, orbital cysts, nystagmus | Isolated cases | - | 164180 |
| DOWN SYNDROME | Iris brushfield spots, upslanting palpebral fissures, epicanthal folds | Most cases not inherited | Trisomy 21 (most cases), translocation, mosaic | #190685 |
| DOYNE HONEYCOMB DYSTROPHY (MALATTIA LEVENTINESE) | Retinal degeneration | AD | EFEMP1 | #126600 |
| DUANE-RADIAL RAY SYNDROME | Strabismus, Duane anomaly, world retraction and palpebral fissure narrowing on adduction, optic disc hypoplasia, iris coloboma, retinal coloboma, epicanthal folds, hypertelorism, cataracts, microphthalmia | Advert | SALL4 | #607323 |
| DYSKERATOSIS CONGENITA | Sparse eyelashes, optic atrophy, conjunctival leukoplakia, epiphora, strabismus, cataract | Advert, AR, X-linked | Numerous | Multiple |
| ECTOPIA LENTIS ET PUPILLAE | Ectopic lens and pupil, cataract, myopia, aberrant actualization iris, increased corneal diameter, retinal disengagement | AR | ADAMTSL4 | #225200 |
| ECTOPIA LENTIS, FAMILIAL | Congenital lens dislocation | Ad | FBN1 | #129600 |
| ECTOPIA LENTIS, ISOLATED | Lens dislocation | AR | ADAMTSL4 | #225100 |
| EHLERS-DANLOS SYNDROME | Myopia, ectopia lentis, blue sclera, epicanthal folds, keratoconus | AD | COL5A1 and COL5A2, COL3A1, TNXB | Multiple |
| ENHANCED Due south-CONE SYNDROME | Vitreoretinal degeneration, retinoschisis, hemeralopia, macular edema, cataract, night blindness | AR | NR2E3 | #268100 |
| EPITHELIA BASEMENT MEMBRANE CORNEAL DYSTROPHY (MAP-DOT-FINGERPRINT CORNEAL DYSTROPHY) | Map lines-dots-fingerprint lines epithelial corneal changes, recurrent corneal erosions | Advertizing | TGFBI | #121820 |
| FABRY DISEASE (HEREDITARY DYSTOPIC LIPIDOSIS) | Corneal opacities (cornea verticillata), retinal vessel tortuosity, cataracts | Ten-linked | GLA | #301500 |
| FAMILIAL DYSAUTONOMIA | Alacrima, Diminished corneal reflex | AR | IKBKAP | #223900 |
| FISH-Center Disease | Corneal opacities | AR | LCAT | #136120 |
| FUCH'S ENDOTHELIAL CORNEAL DYSTROPHY | Corneal endothelial guttata, stromal edema, endothelial cell death, hypertrophy and polymorphism | AD | Numerous | Multiple |
Diseases G-I
| DISORDER | Center FINDING | Style OF INHERITANCE | KNOWN GENES OR CHROMOSOMAL Abnormality INVOLVED | MIM SYMBOL & NUMBER REFERENCE |
|---|---|---|---|---|
| GALACTOKINASE DEFICIENCY | Cataracts | AR | GALK1 | #230200 |
| GALACTOSEMIA | Cataracts | AR | GALT | #230400 |
| GAUCHER'S DISEASE | Macular atrophy, increased vascular permeability, perimacular grayness, brown deposits at limbus, white deposits in anterior segment, strabismus, oculomotor apraxia, supranuclear gaze palsy, hypertelorism, corneal opacities, nystagmus | AR | GBA | #230800, #230900, #231000, #231005, #608013 |
| GLAUCOMA, Congenital | Buphthalmos, increased intraocular pressure, corneal brume, myopia | AR | CYP1B1, MYOC | #231300, %600975 |
| GLAUCOMA, Open up ANGLE JUVENILE ONSET | Increased intraocular pressure, myopia | Advert | MYOC, CYP1B1 | #137750 |
| GLAUCOMA, OPEN ANGLE ADULT ONSET | Increased intraocular pressure, myopia | Ad | OPTN, ASB10, WDR36 | #137760, %601682, %602429, #603383, #609887, %611276, #177700 |
| GM1-GANGLIOSIDOSIS, TYPE I | Reddish spot, hypertelorism | AR | GLB1 | #230500 |
| GM1-GANGLIOSIDOSIS, Blazon Two | Optic cloudburst | AR | GLB1 | #230600 |
| GM1-GANGLIOSIDOSIS, Type Iii | Corneal clouding | AR | GLB1 | #230650 |
| GOLDENHAR SYNDROME (HEMIFACIAL MICROSOMIA) | Upper eyelid coloboma, epibulbar dermoid, blepharophimosis, strabismus, microphthalmia, anophthalmia | AD | - | %164210 |
| GOLTZ SYNDROME | Microphthalmia, anophthalmia, strabismus, coloboma, aniridia, ectopia lentis, optic atrophy, nystagmus | XLD | PORCN | #305600 |
| GRANULAR CORNEAL DYSTROPHY (GROENOUW Type I) | Opacities in stromal layer | Advertising | TGFBI | #121900 |
| GYRATE ATROPHY | Progressive chorioretinal degeneration, night blindness, myopia, cataracts | AR | OAT | #258870 |
| HEREDITARY HEMORRHAGIC TELANGIETASIA (OSLER-RENDU-WEBER Illness) | Conjunctival telangiectases | Advertising | ENG | #187300 |
| HERMANSY-PUDLAK SYNDROME | Oculocutaneous albinism, nystagmus, reduced iris paint, decreased retinal pigment, foveal hypoplasia | AR | Numerous | Multiple |
| HOMOCYSTINURIA | Ectopia lentis, myopia, glaucoma | AR | CBS | #236200 |
| IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME | Photophobia, corneal opacities and erosions, vascularizing keratitis | XLR | MBTPS2 | #308205 |
| INCONTINENTIA PIGMENTI (BLOCH-SULZBERGER SYNDROME) | Retinal vascular proliferation, retinal disengagement, strabismus, optic atrophy, cataract, microphthalmos | XLD | IKBKG | #308300 |
Diseases J-L
| DISORDER | EYE FINDING | MODE OF INHERITANCE | KNOWN GENES OR CHROMOSOMAL ABNORMALITY INVOLVED | MIM SYMBOL & NUMBER REFERENCE |
|---|---|---|---|---|
| JACKSON-WEISS SYNDROME | Craniosynostosis | Advertisement | FGFR1, FGFR2 | #123150 |
| JALILI SYNDROME | Cone-rod dystrophy, nystagmus, photophobia, bull's heart macular lesion, progressive primal vision loss, night incomprehension, optic pale disc | AR | CNNM4 | #217080 |
| JOUBERT SYNDROME | Pigmentary retinopathy, oculomotor apraxia or difficulty in smooth visual pursuits and jerkiness in gaze tracking, ptosis, coloboma, epicanthal folds | AR (most common), XLR | Numerous | Multiple |
| JUBERG-MARSIDI SYNDROME | Ptosis, epicanthal folds, hypertelorism, upslanting palpebral fissures, exotropia, optic atrophy | XLR | ATRX | #309580 |
| KRABBE DISEASE | Nystagmus, optic atrophy | AR | GALC | #245200 |
| KEARNS-SAYRE SYNDROME | Ptosis, progressive external ophthalmoplegia, pigmentary retinopathy | Mitochondrial | Multiple | #530000 |
| KLIPPEL-TRENAUNAY-WEBER | Glaucoma | Isolated cases | - | %149000 |
| LATTICE CORNEAL DYSTROPHY | Lattice pattern of amyloid deposits in stromal layer, recurrent corneal erosions | Advertizing | TGFBI | #122200, #608471 |
| LCHAD (LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE) DEFICIENCY | Pigmentary retinopathy | AR | HADHA | #609016 |
| LEBER CONGENITAL AMAUROSIS | Pigmentary retinopathy, photophobia, cataract, nystagmus, eye poking, diminished electroretinogram | AD, AR | Numerous | Multiple |
| LEBER HEREDITARY OPTIC NEUROPATHY | Progressive blurred vision, optic atrophy, vascular tortuosity of key retinal vessels, circumpapillary telangiectatic macroangiopathy, retinal nerve fibers swelling | Mitochondrial | MTND1, MTND4, MTND5, MTND6 | #535000 |
| LEIGH SYNDROME | Pigmentary retinopathy, nystagmus, optic cloudburst, ophthalmoplegia | Mitochondrial | Numerous | Multiple |
| LOWE | Glaucoma, congenital cataract, microphthalmia | XLR | OCRL1 | #309000 |
Diseases Thou-O
| DISORDER | Middle FINDING | MODE OF INHERITANCE | KNOWN GENES OR CHROMOSOMAL ABNORMALITY INVOLVED | MIM SYMBOL & NUMBER REFERENCE |
|---|---|---|---|---|
| MACULAR DEGENERATION, Age-RELATED | Degeneration of macula that affects cardinal vision | - | Numerous | Multiple |
| MACULAR CORNEAL DYSTROPHY (GROENOUW Blazon Two) | Gray-white punctate opacities in stromal layer that extent to peripheral cornea with lack of clear spaces between opacities | AR | CHST6 | #217800 |
| MAINZER-SALDINO SYNDROME | Retinal pigmentary dystrophy, nystagmus | AR | IFT140 | #266920 |
| MANNOSIDOSIS | Conjunctival vessel tortuosity, nystagmus, impaired smooth pursuits, progressive retinal degeneration, heavy eyebrows, epicanthal folds | AR | MANBA, MAN2B1 | #248510, #248500 |
| MARCUS GUNN PHENOMENON | Unilateral built ptosis, elevation of ptotic lid upon movement of lower jaw | ?AD | - | 154600 |
| MARFAN SYNDROME | Ectopia lentis, myopia | AD | FBN1 | #154700 |
| MASS SYNDROME (OVERLAP CONNECTIVE TISSUE Illness) | Myopia | - | FBN1 | #604308 |
| MECKEL SYNDROME | Iris colobma, hypertelorism and hypotelorism, microphthalmia | AR | Numerous | Multiple |
| MEESMANN CORNEAL DYSTOPHY | Punctate opacities in corneal epithelium, photophobia, astigmatism | Advertising | KRT3, KRT12 | #122100 |
| MELAS SYNDROME | Cortical blindness, hemianopsia, cataracts | Mitochondrial | Multiple | #540000 |
| MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL Advent | Strabismus, nystagmus, hypotelorism, deep-set eyes | XLR | OPHN1 | #300486 |
| MERRF SYNDROME | Optic cloudburst, pigmentary retinopathy | Mitochondrial | Numerous | #545000 |
| METACHROMATIC LEUKODYSTROPHY | Optic cloudburst | AR | ARSA | #250100 |
| MICPCH SYNDROME | Epicanthal folds, hypertelorism, optic nerve hypoplasia, strabismus | XLD | CASK | #300749 |
| MOHR-TRANEBJAERG SYNDROME | Cortical blindness, myopia, photophobia, constricted visual fields | XLR | TIMM8A | #304700 |
| MOYAMOYA Disease | Morning glory disc anomaly, choroidal coloboma | AR | Numerous | Multiple |
| MOYAMOYA Illness, SYNDROMIC | Ptosis, cataracts, hypertelorism, deep-set eyes | XLR | Deletion of Xq28 | #300845 |
| MUCOPOLYSACCHARIDOSIS TYPE IH (HURLER SYNDROME) | Corneal clouding, retinopathy, glaucoma | AR | IDUA | #607014 |
| MUCOPOLYSACCHARIDOSIS TYPE IH/S (HURLER-SCHEIE SYNDROME) | Corneal clouding | AR | IDUA | #607015 |
| MUCOPOLYSACCHARIDOSIS Type IS (SCHEIE SYNDROME) | Corneal clouding, retinopathy, glaucoma | AR | IDUA | #607016 |
| MUCOPOLYSACCHARIDOSIS Blazon II (HUNTER SYNDROME) | Retinopathy, ptosis, papilledema | XLR | IDS | #309900 |
| MUCOPOLYSACCHARIDOSIS Type IIIA (SANFILIPPO SYNDROME A) | Synophrys | AR | SGSH | #252900 |
| MUCOPOLYSACCHARIDOSIS Blazon IIIB (SANFILIPPO SYNDROME B) | Synophrys | AR | NAGLU | #252920 |
| MUCOPOLYSACCHARIDOSIS Type IIIC (SANFILIPPO SYNDROME C) | Retinitis pigmentosa, synophrys | AR | HGSNAT | #252930 |
| MUCOPOLYSACCHARIDOSIS Blazon IIID (SANFILIPPO SYNDROME D) | Synophrys | AR | GNS | #252940 |
| MUCOPOLYSACCHARIDOSIS Type IVA (MORQUIO SYNDROME A) | Corneal clouding, Retinopathy | AR | GALNS | #253000 |
| MUCOPOLYSACCHARIDOSIS Blazon IVB (MORQUIO SYNDROME B) | Corneal clouding, Retinopathy | AR | GLB1 | #253010 |
| MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY SYNDROME) | Corneal clouding, glaucoma | AR | ARSB | #253200 |
| MUCOPOLYSACCHARIDOSIS TYPE Seven (SLY SYNDROME) | Corneal clouding | AR | GUSB | #253220 |
| MUENKE SYNDROME | Ptosis, hypertelorism, downslanting palpebral fissures | AD | FGFR3 | #602849 |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY | Microphthalmia, microcornea, colobomas, optic nerve hypoplasia, cataracts, retinal dysplasia, iris malformation, myopia, glaucoma | AD, AR (most) | Numerous | Multiple |
| MYOTONIC DYSTROPHY | Iridescent cataract | AD | DMPK, ZNF9, CNBP | #160900, #602668 |
| NAIL-PATELLA SYNDROME | Cataract, microcornea, microphakia, keratoconus, glaucoma, ptosis | Ad | LMX1B | #161200 |
| NANCE-HORAN SYNDROME | Congenital cataracts, glaucoma, microphthalmia, microcornea, nystagmus | XLD | NHS | #302350 |
| NATIVE AMERICAN MYOPATHY | Short and downslanting palpebral fissures, ptosis, telecanthus | AR | STAC3 | #255995 |
| NEUROFIBROMATOSIS Blazon I | Café au lait, optic glioma, lisch nodules, glaucoma | AD | NF1 | #162200 |
| NEUROFIBROMATOSIS Type II | Cataracts, retinal hamartoma | Advertisement | NF2 | #101000 |
| NEUROFIBROMATOSIS-NOONAN SYNDROME | Ptosis, lisch nodules, epicanthal folds, hypertelorism, downslanting palpebral fissures | Advert | NF1 | #601321 |
| NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA (NARP) | Retinopathy, nystagmus, sluggish pupils | Mitochondrial | MT-ATP6 | #551500 |
| NIEMANN-Choice DISEASE | Carmine-cerise macula, granular actualization macula, vertical supranuclear gaze palsy | AR | NPC1, NPC2, SMPD1 | #257200, #607616, #257220 |
| NOONAN SYNDROME | Epicanthal folds, myopia, ptosis, hypertelorism, downslanting palpebral fissures | Advertizing | Numerous | Multiple |
| NORMAL-TENSION GLAUCOMA | Glaucoma with no elevated intraocular pressure | - | OPA1, OPTN | #606657 |
| NORRIE Affliction | Retinal detachment, microphthalmia, retinal dysplasia, corneal and vitreous opacities, cataract, optic atrophy | XLR | NDP | #310600 |
| NEURONAL CEROID LIPOFUSCINOSIS | Optic cloudburst, retinal degeneration, abnormal electroretinogram | Advert, AR (majority) | Numerous | Multiple |
| OCCULT MACULAR DYSTOPHY | Progressive decreased vision, reduced focal macular electroretinogram | AD | RP1L1 | #613587 |
| OCULAR ALBINISM | Nystagmus, decreased iris pigment, translucent iris, foveal hypoplasia, strabismus, translucent iris, nystagmus, photophobia, high refractive erros | 10-linked | GPR143 | #300500 |
| OCULOCUTANEOUS ALBINISM | Nystagmus, decreased iris pigment, translucent iris, foveal hypoplasia, strabismus, white hair and skin, translucent iris, nystagmus, photophobia, high refractive erros | AR | TYR, OCA2, TYRP1, or SLC45A2, MC1R | Multiple |
| OCULOPHARYNGEAL MUSCULAR DYSTROPHY | Progressive blepharoptosis starting time about often in the fifth decade of life, facial musculus weakness, eye motility disorders | Advertizement, AR | PABN1; an expansion of alanine (GCN) on the repeat region on chromosome 14q11.2 | #164300 |
| OGUCHI Affliction | Built stationary night incomprehension, golden yellowish fundus in lite that disappears in night adaptation (Mizuo-Nakamura phenomenon) | AR | SAG, GRK1 | #258100, #613411 |
| OPTIC Cloudburst | Optic nervus pallor, cataract | AD, AR, X-linked | Numerous | Multiple |
| ORAL-FACIAL-DIGITAL SYNDROME | Downslanting palpebral fissures, telecanthus, hypertelorism, epicanthus, nystagmus, strabismus | AR, XLD | Numerous | Multiple |
| OSTEOGENESIS IMPERFECTA | Blue or grayness sclera | Advertisement (virtually common), AR, sporadic | COL1A1, COL1A2, CRTAP, LEPRE1 | Multiple |
Diseases P-R
| DISORDER | EYE FINDING | MODE OF INHERITANCE | KNOWN GENES OR CHROMOSOMAL Aberration INVOLVED | MIM SYMBOL & NUMBER REFERENCE |
|---|---|---|---|---|
| PELIZAEUS-MERZBACHER | Optic atrophy, nystagmus | XLR | PLP1 | #312080 |
| PETERS' Bibelot | Central corneal leukoma, absent-minded Descemet membrand and posterior stroma, iris and lens attachments to posterior cornea | AD, AR | PAX6, PITX2, CYP1B1, FOXC1 | #604229 |
| PETERS-PLUS SYNDROME (KRAUSE-KIVLIN SYNDROME) | Peter's anomaly, nystagmus, glaucoma, cataract, myopia, coloboma, upslanting palpebral fissures, ptosis, hypertelorism | AR | B3GALTL | #261540 |
| PFEIFFER SYNDROME | Shallow orbits, proptosis, hypertelorism, downslanting palpebral fissures, strabismus | Advertising | FGFR1, FGFR2 | #101600 |
| PHACE ASSOCIATION | Optic nerve hypoplasia, microphthalmos, exophthalmos, choroidal hemangiomas, colobomas, cryptophthalmos, microphthalmos, strabismus, posterior embryotoxon, Horner syndrome, strabismus, cataracts | - | - | 606519 |
| PHENYLKETONURIA | Possible cataracts and blue eyes in untreated | AR | PAH | #261600 |
| PIERRE ROBIN SEQUENCE | Stickler syndrome | AD, AR, X-linked, isolated | - | %261800 |
| Pigment DISPERSION SYNDROME | Glaucoma, myopia, pigment granules on corneal endothelium, iris transillumination defects, concave iris, increased pigmentation of trabecular meshwork, deposited pigment on Schwalbe's line | AD | - | %600510 |
| PRADER-WILLI SYNDROME | Refractive errors, strabismus, upslanting palpebral fissures, almond-shaped eyes | Isolated | NDN, SNRPN | #176270 |
| PRIETO SYNDROME | Strabismus, ptosis, nystagmus, hypertelorism, epicanthal folds | XLR | - | %309610 |
| PROUD SYNDROME | Nystagmus, strabismus, optic atrophy, synophrys | X-linked | ARX | #300004 |
| PSEUDOEXFOLIATION SYNDROME | Glaucoma, white flaky deposits on anterior lens and pupillary border of iris, iris transillumination defects, pigmented granules on trabecular meshwork, poor pupillary response in dilation, weak zonules | AD | LOXL1 | #177650 |
| REFSUM Affliction | Nighttime blindness, cataracts, retinal pigmentary degeneration, constricted visual fields | AR | PHYH, PEX7 | #266500 |
| REIS-BUCKLERS CORNEAL DYSTROPHY | Reticular opacities in Bowman's layer, recurrent corneal erosions | Advertizing | TGFBI | #608470 |
| RENPENNING SYNDROME (MENTAL RETARDATION, X-LINKED, RENPENNING Type) | Strabismus, cataracts, epicanthus, colobomas, microphthalmia, long eyelashes, sparse eyebrows, hyperopia, upslanting palpebral fissures | XLR | PQBP1 | #309500 |
| RETINITIS PIGMENTOSA | Progressive retinal degeneration, night blindness, constricted visual fields, dyschromatopsia, cystoid macular edema, paint clumps in retina, attenuated retinal vessels, waxy pallor of optic disc, cataracts | Advert, AR, XLR | Numerous | Multiple |
| RETINOBLASTOMA | Leukcoria, strabismus, retinal detachment, glaucoma, pseudouveitis, proptosis, hyphema, orbital cellulitis, red painful middle | Advert, sporadic | RB1 | #180200 |
| RETINOSCHISIS, JUVENILE X LINKED | Retinoschisis, retinal detachment, nystagmus, vitreous hemorrhage, cystic maculopathy 10-linked | RS1 | #312700 | |
| ROIFMAN SYNDROME | Retinal dystrophy, strabismus, refractive error, narrow palpebral fissures, downslanting palpebral fissures, long eyelashes | XLR | - | %300258 |
| RUBINSTEIN-TAYBI SYNDROME | Glaucoma, cataracts, strabismus, coloboma, epicanthal folds, ptosis, downward slanting palpebral fissures, heavy and biconvex eyebrows, long eyelashes | Advertisement | CREBBP, EP300 | #180849, #613684, #610543 |
| RUSSELL-SILVER SYNDROME | Blue sclera | Advertizing, AR, desultory (most cases) | #180860 |
Diseases S-U
| DISORDER | Heart FINDING | Fashion OF INHERITANCE | KNOWN GENES OR CHROMOSOMAL Aberration INVOLVED | MIM SYMBOL & NUMBER REFERENCE |
|---|---|---|---|---|
| SAETHRE-CHOTZEN SYNDROME | Coronal synostosis, orbital asymmetry, shallow orbits, ptosis, strabismus, hypertelorism, lacrimal duct abnormalities | Advertizement | TWIST1, FGFR2 | #101400 |
| SANDHOFF DISEASE (GM2-GANGLIOSIDOSIS, Type 2) | Cherry red spot | AR | HEXB | #268800 |
| SCHNYDER CORNEAL DYSROPHY | Corneal clouding in stroma yellow-white crystal deposits | Advertizing | UBIAD1 | #121800 |
| SENGERS SYNDROME | Cataract, strabismus, glaucoma, myopia | AR | AGK | #212350 |
| SENIOR-LOKEN SYNDROME | Tapetoretinal degeneration, photophobia, nystagmus, hyperopia, flat electroretinogram | AR | NPHP1, NPHP4 SDCCAG8, WDR19, CEP290, IQCB1 | Multiple |
| SEPTIC-OPTIC DYSPLASIA (DE MORSIER SYNDROME) | Optic nervus hypoplasia, nystagmus | AD, AR, sporadic | HESX1, OTX2, SOX2 | #182230 |
| SHASHI X-LINKED MENTAL RETARDATION SYNDROME (MENTAL RETARDATION, X-LINKED, SYNDROMIC 11) | Narrow palpebral fissures, periorbital fullness | XLR | - | %300238 |
| SCHIMKE X-LINKED MENTAL RETARDATION SYNDROME | External ophthalmoplegia | X-linked | - | 312840 |
| SMITH-MAGENIS SYNDROME (CHROMOSOME 17p11.2 DELETION SYNDROME) | Microcornea, strabismus, iris anomalies, myopia | AD (sporadic unless secondary to a parental balanced translocation) | RAI1, almost cases caused by by a 3.7-Mb interstitial deletion in chromosome 17p11.two | #182290 |
| SICKLE CELL ANEMIA | Retinopathy, retinal and vitreous hemorrhages, tractional retinal detachments, retinal vascular occlusions, comma shaped vessels in conjunctiva, angioid streaks | AR | HBB | #603903 |
| SIMPSON-GOLABI-BEHMEL SYNDROME | Hypertelorism, epicanthal folds, downslanting palpebral fissures | XLR | GPC3, OFD1 | #312870, #300209 |
| SORSBY FUNDUS DYSTROPHY | Progressive macular dystrophy, Night blindness | Advertizing | TIMP3 | #136900 |
| SPASTIC PARAPLEGIA | Nystagmus, optic atrophy | AD, AR, X-linked, Mitochondrial | Numerous | Multiple |
| SPINOCEREBELLAR Clutter, Ten-LINKED 1 | Slow centre movements, strabismus | XLR | ATP2B3 | #302500 |
| STARGARDT DISEASE/FUNDUS FLAVIMACULATUS | Progressive macular dystophy, central retinal atrophy, macular flecks, later disease onset and scattered flecks with Fundus Flavimaculatus | AD, AR | ABCA4 (bulk cases), ELOVL4, PROM1 | #248200, #600110, #603786 |
| STICKLER SYNDROME | Myopia, retinal detachment, cataracts, glaucoma, vitreoretinal degeneration, no ocular signs (type 3) | AD (Blazon I,Two,III), AR (Type 4, Five) | COL2A1, COL11A1, COL11A2, COL9A1, COL9A2 | #108300, #604841, #184840, #614134, #614284, #609508 |
| STURGE-WEBER SYNDROME | Choroidal hemaiomata, glaucoma | Isolated cases | GNAQ | #185300 |
| SULFOCYSTEINURIA (SULFITE OXIDASE DEFICIENCY) | Ectopia lentis | AR | SUOX | #272300 |
| SYNDROMIC MICROPHTHALMIA 1 (LENZ MICROPHTHALMIA SYNDROME) | Anophthalmia, microphthalmia, microcornea, ptosis, colobomas | X-linked | NAA10 | #309800 |
| SYNDROMIC MICROPHTHALMIA 2 (OCULOFACIOCARDIODENTAL SYNDROME) | Microphthalmia, microcornea, cataract, thick eyebrows, ptosis, bleparophimosis, strabismus | XLD | BCOR | #300166 |
| SYNDROMIC MICROPHTHALMIA three (MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME) | Anophthalmia, microphthalmia, coloboma, optic nerve hypoplasia | Advertizement | SOX2 | #206900 |
| SYNDROMIC MICROPHTHALMIA 4 | Anophthalmia, ankyloblepharon | X-linked | - | %301590 |
| SYNDROMIC MICROPHTHALMIA 5 | Anophthalmia, microphthalmia, microcornea, retinal dystrophy, optic nerve hypoplasia, colobomas | AD | OTX2 | #610125 |
| SYNDROMIC MICROPHTHALMIA 6 | Anophthalmia, microphthalmia | Advertisement | BMP4 | #607932 |
| SYNDROMIC MICROPHTHALMIA vii (MIDAS SYNDROME) | Microphthalmia, cataracts, coloboma, sclerocornea, pigmentary retinopathy | XLD | HCCS | #309801 |
| SYNDROMIC MICROPHTHALMIA 8 | Microphthalmia, Microcornea, short palpebral fissures | AD | - | %601349 |
| SYNDROMIC MICROPHTHALMIA nine (MATTHEW-WOOD SYNDROME) | Anophthalmia, microphthalmia, coloboma, optic nerve hypoplasia, blepharophimosis, broad eyebrows | AR | STRA6 | #601186 |
| SYNDROMIC MICROPHTHALMIA 10 | Microphthalmia | - | - | %611222 |
| SYNDROMIC MICROPHTHALMIA 11 | Microphthalmia, optic nerve hypoplasia | AR | VAX1 | #614402 |
| SYNDROMIC MICROPHTHALMIA 12 | Anophthalmia, microphthalmia | AD | RARB | #615524 |
| SYNDROMIC MICROPHTHALMIA xiii | Microphthalmia, microcornea, ptosis, coloboma, nystagmus, esotropia | X-linked | HMGB3 | #300915 |
| SYNDROMIC MICROPHTHALMIA 14 | Microphthalmia, coloboma | - | MAB21L2 | #615877 |
| TARP SYNDROME | Brusque palpebral fissures, optic atrophy, underdeveloped supraorbital ridges, hypertelorism | XLR | RBM10 | #311900 |
| TAY-SACHS DISEASE (GM2-GANGLIOSIDOSIS, Type I) | Cherry cherry-red spot | AR | HEXA | #272800 |
| THIEL-BEHNKE CORNEAL DYSTROPHY | Honeycomb-shaped opacities in Bowman's layer, recurrent corneal erosions | Advert | TGFBI | %602082 |
| TREACHER COLLINS SYNDROME | Downslanting palpebral fissures, lower eyelid colobomas | AD, AR | Numerous | #154500, #613717, #248390 |
| TUBEROUS SCLEROSIS | Retinal hamartomas, adenoma sebaceum of eyelids | AD (ii/3 de novo) | TSC1 and TSC2 | #191100, #613254 |
| TURNER SYNDROME | Hypertelorism | Most not inherited | SHOX | - |
| TYROSINEMIA, TYPE II | Herpetiform corneal ulcers, photophobia, excessive vehement | AR | TAT | #276600 |
| Usher SYNDROME | retinitis pigmentosa, cataracts | AR | eleven genes, majority of cases due to MYO7A, USH2A | Multiple |
Diseases V-Z
| DISORDER | Middle FINDING | Fashion OF INHERITANCE | KNOWN GENES OR CHROMOSOMAL Abnormality INVOLVED | MIM SYMBOL & NUMBER REFERENCE |
|---|---|---|---|---|
| VACTERL Clan WITH HYDROCEPHALUS | Downward gaze of eyes | By and large sporadic | PTEN | #276950 |
| VAN DEN BOSCH SYNDROME | Choroideremia | XLR | - | %314500 |
| VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET | Yellow pigmented macular lesion, choroidal neovascularization, central retinal paint epithelium cloudburst | Advertising | PRPH2, BEST1 | #608161 |
| VON HIPPEL-LINDAU SYNDROME | Hemangioblastoma | Advertising | VHL | #193300 |
| WAARDENBURG SYNDROME | Heterochromic irides, dystrophia canthorum, blepharophimosis, hypertelorism, blue irides, synophrys | AD, AR | EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10 | Multiple |
| WAGNER SYNDROME | Myopia, vitreoretinal degeneration, chorioretinal atrophy, glaucoma, retinal detachment | AD | VCAN | #143200 |
| WATSON SYNDROME | Lisch nodules | AD | NF1 | #193520 |
| WEILL-MARCHESANI SYNDROME | Ectopia lentis, microspherophakia, glaucoma, myopia, cataract, shallow anterior chamber | Advertisement, AR | ADAMTS10, FBN1, LTBP2 | #277600, #608328, #614819 |
| WIEACKER-WOLFF SYNDROME | Ptosis, upslanting palpebral fissures, oculomotor apraxia | XLR | ZC4H2 | #314580 |
| WILSON Disease | Kayser-Fleischer ring, cataracts | AR | ATP7B | #277900 |
| WITTWER SYNDROME | Microphthalmia, optic atrophy | X-linked | - | %300421 |
| WOLFRAM SYNDROME | Pigmentary retinopathy, optic atrophy, nystagmus, ptosis | AR | WFS1, CISD2 | #222300, #604928, #598500 |
| XERODERMA PIGMENTOSUM | Keratitis, microcephaly, neoplasms, photophobia | AR | XPA, XPC, ERCC2, ERCC3, POLH | Multiple |
References
- ↑ 1.0 1.ane 1.2 Genetics Domicile Reference Glossary, World Wide Web URL: http://ghr.nlm.nih.gov/glossary
- ↑ two.0 2.one Hartwell, Fifty. (2004). Genetics: From genes to genomes (2nd ed.). Boston, Mass.: McGraw-Loma Higher Education.
- ↑ 3.0 3.one Mayo Clinic Health Data, Globe Wide Web URL: http://www.mayoclinic.org/
- ↑ iv.0 4.1 National Human Genome Research Institute, Earth Wide Web URL: https://www.genome.gov/
- ↑ Karthikeyan A. Sadagopan, Jenina Capasso, and Alex V. Levin, Genetics for the ophthalmologist, Oman J Ophthalmol. 2012 Sep-Dec; v(3): 144–149, doi: 10.4103/0974-620X.106092, PMCID: PMC3574508
- ↑ Jenina E. Capasso, The Cost of Genetic Testing for Ocular Disease, Curr Opin Ophthalmol. 2014;25(5):394-399
- ↑ Edwin Thou. Stone, MD, Ph.D., Anthony J. Aldave, Doc, Arlene V. Drack, Md et al., Recommendations for Genetic Testing of Inherited Eye Diseases, 2012 American Academy of Ophthalmology
- ↑ Hennekam RC, Biesecker LG, Allanson JE, et al., Elements of Morphology Consortium. 2013. Elements of morphology: Full general terms for congenital anomalies. Am J Med Genet Function A 161A:2726–2733.
- ↑ Mona Al-Enezi, MD, FRCS (Ed), Hanan Al-Saleh, MD, FRCS, and Murad Nasser, MS (ICO), FRCS (Ed), Mitochondrial Disorders with Significant Ophthalmic Manifestations, Middle East Afr J Ophthalmol. 2008 Apr-Jun; 15(2): 81–86, doi: 10.4103/0974-9233.51998
- ↑ American Higher of Medical Genetics, Www URL: https://www.acmg.net
- ↑ Jane L Ashworth FRCOphth, PhD, Friedrich Eastward Kruse MD, Björn Bachmann Medico et al., Ocular manifestations in the mucopolysaccharidoses – a review, Clinical & Experimental Ophthalmology Special Issue: Mucopolysaccharidosis (MPS) and The Eye: What practise we know and how tin can we treat? Volume 38, Issue Supplement s1, pages 12–22, Baronial 2010
- ↑ Online Mendelian Inheritance in Human, OMIM®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD), Globe Wide Web URL: http://omim.org/
- ↑ NCBI Gene Reviews Rare Disease Database, World Broad Web URL: http://www.ncbi.nlm.nih.gov/books/NBK1116/
- ↑ NORD Rare Disease Information Rare Affliction Database, World Broad Web URL: https://world wide web.rarediseases.org/rare-disease-data/rare-diseases
- ↑ M Rajappa, A Goyal and J Kaur, Inherited metabolic disorders involving the eye: a clinico-biochemical perspective, Centre (2010) 24, 507–518; doi:x.1038/center.2009.229; published online two Oct 2009
- ↑ Roger East. Stevenson, Md, Charles East. Schwartz, Ph.D, R. Curtis Rogers, Dr., Atlas of X-Linked Intellectual Disability Syndromes, Second Edition, 2012 Oxford Academy Printing
- ↑ Elias I. Traboulsi, MD, Genetic Diseases of the Middle, Second Edition, Oxford University Press, 2012
- ↑ Myron Yanoff, Jay S. Duker, Ophthalmology 2d Edition, 2004, Mosby, Inc.
Source: https://eyewiki.aao.org/Genetic_Eye_Disease_Related_Terms_and_Resources
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