{"Name":"Ocular albinism","DiseaseID__c":"GARD:0021124","id":21124,"encodedName":"ocular-albinism","IsDeleted":false,"Disease_Name_Full__c":"Ocular albinism","Xref_IDs__c":"26399002; C0078917; D016117; DOID:0050633; E70.31; HP:0001107; MEDGEN:38147; MONDO:0017304; ORPHA:284804","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0017304","Disease_Description__c":"Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.","GARD_Name__c":"Ocular albinism","GARD_Synonym__c":"absent pigmentation in the eye; albinism, ocular; oa - ocular albinism; ocular albinism (disease)","Curated_Disease_Description_Source__c":"MONDO:0017304","Curated_Disease_Description__c":"Ocular albinism is a genetic condition that primarily affects the eyes.  This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision. Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). Although the vision loss is permanent, it does not worsen over time. Other eye abnormalities associated with this condition include rapid, involuntary eye movements (nystagmus); eyes that do not look in the same direction (strabismus); and increased sensitivity to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to the brain. Unlike some other forms of albinism, ocular albinism does not significantly affect the color of the skin and hair.  People with this condition may have a somewhat lighter complexion than other members of their family, but these differences are usually minor. The most common form of ocular albinism is known as the Nettleship-Falls type or type 1.  Other forms of ocular albinism are much rarer and may be associated with additional signs and symptoms, such as hearing loss.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:284804","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017304","ORPHANET_ID__c":"ORPHA:284804","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Albinismo ocular","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"albinismo ocular","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97966","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Ocular albinism is a genetic condition that primarily affects the eyes.  This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision. Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). Although the vision loss is permanent, it does not worsen over time. Other eye abnormalities associated with this condition include rapid, involuntary eye movements (nystagmus); eyes that do not look in the same direction (strabismus); and increased sensitivity to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to the brain. Unlike some other forms of albinism, ocular albinism does not significantly affect the color of the skin and hair.  People with this condition may have a somewhat lighter complexion than other members of their family, but these differences are usually minor. The most common form of ocular albinism is known as the Nettleship-Falls type or type 1.  Other forms of ocular albinism are much rarer and may be associated with additional signs and symptoms, such as hearing loss.","Curated_Disease_Description_Source__c":"MONDO:0017304","GARD_Synonym__c":"absent pigmentation in the eye; albinism, ocular; oa - ocular albinism; ocular albinism (disease)","Name":"Ocular albinism","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Albinism Fellowship","Website__c":"https://www.albinism.org.uk/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=38147","Source__c":"C0078917","Xref__c":"MEDGEN:38147"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=26399002","Source__c":"C0078917; MONDO:0017304","Xref__c":"26399002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C016117","Source__c":"C0078917; MONDO:0017304","Xref__c":"D016117"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050633","Source__c":"MONDO:0017304","Xref__c":"DOID:0050633"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0078917","Source__c":"C0078917","Xref__c":"C0078917"},{"URL__c":"https://www.orpha.net/en/disease/detail/284804","Source__c":"C0078917; MONDO:0017304; ORPHA:284804","Xref__c":"ORPHA:284804"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017304","Source__c":"GARD:0021124","Xref__c":"MONDO:0017304"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001107","Source__c":"C0078917","Xref__c":"HP:0001107"},{"URL__c":"https://medlineplus.gov/genetics/condition/ocular-albinism","Source__c":"GARD:0021124","Xref__c":"https://medlineplus.gov/genetics/condition/ocular-albinism"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E70.31","Source__c":"MONDO:0017304","Xref__c":"E70.31"}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Ophthalmology"]},"synonyms":["absent pigmentation in the eye"," albinism, ocular"," oa - ocular albinism"," ocular albinism (disease)"]}