{"Name":"Leber congenital amaurosis 2","DiseaseID__c":"GARD:0000636","id":636,"encodedName":"leber-congenital-amaurosis-2","IsDeleted":false,"Disease_Name_Full__c":"Leber congenital amaurosis 2","Xref_IDs__c":"C1859844; C536601; DOID:0110016; MEDGEN:348473; MONDO:0008765; OMIM:204100","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008765","Disease_Description__c":"Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene.","GARD_Name__c":"Leber congenital amaurosis 2","GARD_Synonym__c":"amaurosis congenita of leber ii; lca2; leber congenital amaurosis caused by mutation in rpe65; leber congenital amaurosis type 2; rpe65 leber congenital amaurosis; rpe65-related leber congenital amaurosis","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Leber congenital amaurosis 2 (LCA2) is a severe inherited retinal degeneration (IRD). It typically presents between birth and five years of age. While central vision varies, the hallmark of this disorder is the presence of severe visual impairment with a deceptively preserved retinal structure. Vision is relatively stable in the first decade of life but begins to decline in adolescence. Most affected individuals are legally blind by 20 years of age. After age 20, visual acuity declines further. By the fourth decade all affected individuals are legally blind. Many have complete loss of vision (i.e., no light perception). LCA2 is caused by mutations in the RPE65 gene. It is inherited in an autosomal recessive pattern, meaning that two copies of the mutated gene are required to cause the disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:204100","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008765","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Leber congenital amaurosis 2 (LCA2) is a severe inherited retinal degeneration (IRD). It typically presents between birth and five years of age. While central vision varies, the hallmark of this disorder is the presence of severe visual impairment with a deceptively preserved retinal structure. Vision is relatively stable in the first decade of life but begins to decline in adolescence. Most affected individuals are legally blind by 20 years of age. After age 20, visual acuity declines further. By the fourth decade all affected individuals are legally blind. Many have complete loss of vision (i.e., no light perception). LCA2 is caused by mutations in the RPE65 gene. It is inherited in an autosomal recessive pattern, meaning that two copies of the mutated gene are required to cause the disease.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"amaurosis congenita of leber ii; lca2; leber congenital amaurosis caused by mutation in rpe65; leber congenital amaurosis type 2; rpe65 leber congenital amaurosis; rpe65-related leber congenital amaurosis","Name":"Leber congenital amaurosis 2","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Hope in Focus","Website__c":"https://hopeinfocus.org/"},{"Account_Name__c":"Foundation Fighting Blindness","Website__c":"https://www.fightingblindness.org/"},{"Account_Name__c":"Prevent Blindness America","Website__c":"https://preventblindness.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1859844"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK531510","Source__c":"Gene Review","Xref__c":"NBK531510"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK549574","Source__c":"Gene Review","Xref__c":"NBK549574"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859844","Source__c":"C1859844","Xref__c":"C1859844"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536601","Source__c":"MONDO:0008765","Xref__c":"C536601"},{"URL__c":"https://www.omim.org/entry/204100","Source__c":"C1859844; MONDO:0008765","Xref__c":"OMIM:204100"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110016","Source__c":"MONDO:0008765","Xref__c":"DOID:0110016"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=348473","Source__c":"C1859844","Xref__c":"MEDGEN:348473"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008765","Source__c":"GARD:0000636","Xref__c":"MONDO:0008765"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RPE65","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rpe65","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:204100","Feature__r":{"HPO_Description__c":"Underdevelopment of the vermis of cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001320","HPO_Synonym__c":"Cerebellar vermal hypoplasia; Hypoplasia of the cerebellar vermis; Hypoplastic cerebellar vermis","HPO_Name__c":"Cerebellar vermis hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:204100","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000543","HPO_Synonym__c":"Pale optic disc","HPO_Name__c":"Optic disc pallor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:204100","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:204100","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:204100","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of the combined rod-and-cone response on electroretinogram.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007688","HPO_Synonym__c":"Absent cone and rod functions by electroretinogram; Absent rod-and cone-mediated responses on ERG","HPO_Name__c":"Undetectable light- and dark-adapted electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:204100","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Narrowing of the retinal blood vessels, both arterioles and venules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007843","HPO_Synonym__c":"Narrowing of blood vessels in back of eye","HPO_Name__c":"Attenuation of retinal blood vessels","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:204100","Feature__r":{"HPO_Description__c":"Repetitive pressing, poking, and/or rubbing in the eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001483","HPO_Synonym__c":"Blindism; Eye pressing; Ocular auto-stimulation; Oculodigital phenomenon","HPO_Name__c":"Eye poking","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:204100","Feature__r":{"HPO_Description__c":"An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000580","HPO_Synonym__c":"Pigmentary retinal deposits; Retinal pigment clumping; Retinal pigmentary clumping; Retinal pigmentary degeneration","HPO_Name__c":"Pigmentary retinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:204100","Feature__r":{"HPO_Description__c":"Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000618","HPO_Synonym__c":"Blindness; Total vision loss","HPO_Name__c":"Blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:204100","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:204100","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absent reflectivity of the fovea, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030825","HPO_Synonym__c":"Foveal reflex absent; Loss of foveal reflex","HPO_Name__c":"Absent foveal reflex","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:204100","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inability to see well at night or in poor light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000662","HPO_Synonym__c":"Night blindness; Night-blindness; Poor night vision","HPO_Name__c":"Nyctalopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:204100","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Well-defined or diffused area or lesion of loss of normal retinal tissue; this is often illustrated by greyish discoloration of fundus and/or better visible choroidal vasculature on funduscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001099","HPO_Synonym__c":"Fundus atrophy","HPO_Name__c":"Atrophic fundus lesion","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Retinal"],"Specialist":["Retinal"]},"synonyms":["amaurosis congenita of leber ii"," lca2"," leber congenital amaurosis caused by mutation in rpe65"," leber congenital amaurosis type 2"," rpe65 leber congenital amaurosis"," rpe65-related leber congenital amaurosis"]}