{"Name":"Pigmentary retinal dystrophy","DiseaseID__c":"GARD:0013809","id":13809,"encodedName":"pigmentary-retinal-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Pigmentary retinal dystrophy","Xref_IDs__c":"68222009; C0311338; C562733; DOID:11105; MEDGEN:86317; MONDO:0007639; OMIM:136880; ORPHA:227796","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007639","Disease_Description__c":"Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.","GARD_Name__c":"Pigmentary retinal dystrophy","GARD_Synonym__c":"fundus albipunctatus; prph2-related fundus albipunctatus; rdh5-related fundus albipunctatus; rlbp1-related fundus albipunctatus","Curated_Disease_Description_Source__c":"MONDO:0007639","Curated_Disease_Description__c":"Fundus albipunctatus is an eye disorder characterized by an impaired ability to see in low light (night blindness) and the presence of whitish-yellow flecks in the retina, which is the specialized light-sensitive tissue in the inner lining of the back of the eye (the fundus). The flecks are detected during an eye examination. Individuals with fundus albipunctatus experience night blindness from an early age. In particular, they have delayed dark adaptation, which means they have trouble adapting from bright light to dark conditions, such as when driving into a dark tunnel on a sunny day. It often takes hours for adaptation to occur. Their vision in bright light is usually normal. The flecks are especially abundant near the outer edge (the periphery) of the retina. Their density varies among affected individuals; some people have numerous flecks that overlap, while others have fewer. For unknown reasons, the flecks get smaller or fade with age in some affected individuals, although night vision does not improve. While fundus albipunctatus typically does not worsen (progress) over time, some individuals with the condition develop other eye conditions, such as breakdown of the central region of the retina known as the macula (macular degeneration) with loss of specialized light receptor cells called cones, which can affect vision in bright light.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:227796","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007639","ORPHANET_ID__c":"ORPHA:227796","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fundus albipunctatus","Spanish_Description_Source__c":"ORPHA:227796","Spanish_Description__c":"El fundus albipunctatus es un trastorno distrófico de la retina, genético y poco frecuente, que se caracteriza por la presencia de numerosas lesiones retinianas pequeñas, redondeadas y de color blanco-amarillento que se distribuyen por toda la retina a excepción de la fóvea. Los afectados se presentan en la infancia con ceguera nocturna no-progresiva con tiempos prolongados de adaptación de conos y bastones. La mácula puede o no estar involucrada, lo que puede resultar en una disminución de la agudeza visual central con la edad.","Spanish_Disease_Name__c":"fundus albipunctatus","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":"Fundus albipunctatus is an eye disorder characterized by an impaired ability to see in low light (night blindness) and the presence of whitish-yellow flecks in the retina, which is the specialized light-sensitive tissue in the inner lining of the back of the eye (the fundus). The flecks are detected during an eye examination. Individuals with fundus albipunctatus experience night blindness from an early age. In particular, they have delayed dark adaptation, which means they have trouble adapting from bright light to dark conditions, such as when driving into a dark tunnel on a sunny day. It often takes hours for adaptation to occur. Their vision in bright light is usually normal. The flecks are especially abundant near the outer edge (the periphery) of the retina. Their density varies among affected individuals; some people have numerous flecks that overlap, while others have fewer. For unknown reasons, the flecks get smaller or fade with age in some affected individuals, although night vision does not improve. While fundus albipunctatus typically does not worsen (progress) over time, some individuals with the condition develop other eye conditions, such as breakdown of the central region of the retina known as the macula (macular degeneration) with loss of specialized light receptor cells called cones, which can affect vision in bright light.","Curated_Disease_Description_Source__c":"MONDO:0007639","GARD_Synonym__c":"fundus albipunctatus; prph2-related fundus albipunctatus; rdh5-related fundus albipunctatus; rlbp1-related fundus albipunctatus","Name":"Pigmentary retinal dystrophy","estimateUsa":""}],"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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:227796"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A11105","Source__c":"MONDO:0007639","Xref__c":"DOID:11105"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0311338","Source__c":"C0311338","Xref__c":"C0311338"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562733","Source__c":"MONDO:0007639","Xref__c":"C562733"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=68222009","Source__c":"MONDO:0007639","Xref__c":"68222009"},{"URL__c":"https://www.orpha.net/en/disease/detail/227796","Source__c":"C0311338; MONDO:0007639; ORPHA:227796","Xref__c":"ORPHA:227796"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=86317","Source__c":"C0311338","Xref__c":"MEDGEN:86317"},{"URL__c":"https://www.omim.org/entry/136880","Source__c":"C0311338; MONDO:0007639; ORPHA:227796","Xref__c":"OMIM:136880"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764939004","Source__c":"C0311338","Xref__c":"764939004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007639","Source__c":"GARD:0013809","Xref__c":"MONDO:0007639"},{"URL__c":"https://medlineplus.gov/genetics/condition/fundus-albipunctatus","Source__c":"GARD:0013809","Xref__c":"https://medlineplus.gov/genetics/condition/fundus-albipunctatus"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0030642","Source__c":"C0311338","Xref__c":"HP:0030642"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RDH5","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rdh5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PRPH2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/prph2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RHO","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rho","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RLBP1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:136880","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:136880","Feature__r":{"HPO_Description__c":"Widespread white lesions of uniform, small and round appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030642","HPO_Name__c":"Fundus albipunctatus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:136880","Feature__r":{"HPO_Description__c":"Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012045","HPO_Name__c":"Retinal flecks","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["fundus albipunctatus"," prph2-related fundus albipunctatus"," rdh5-related fundus albipunctatus"," rlbp1-related fundus albipunctatus"]}