Global Variome shared LOVD

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Phenotype #0000307215 Individual ID 00415421 Associated disease - Phenotype details whole family description: main lesion of the fundus located in the macular region, limited to within the retinal vascular arcades of the posterior pole (Stage 1); further smaller atrophic lesions develop progressively around this central lesion; in Stage 2, slow progression of the chorioretinal atrophy with structurally intact retina remaining at the peripapillary region and at the extreme periphery; second smaller focus of chorioretinal atrophy presents later in the second decade of life and overtime there is further progression of the atrophic lesions during Stage 3 of disease Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite progressive bifocal chorioretinal atrophy (PBCRA) Age/Examination - Age/Diagnosis - Age/Onset 0m Phenotype/Onset significant visual impairment, photophobia, and nystagmus Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-13 21:02:16 +02:00 (CEST) Date last edited N/A

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