Global Variome shared LOVD

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Phenotype #0000055787 Individual ID 00076012 Associated disease - Phenotype details retinitis pigmentosa; Extensive atrophy with almost complete loss of peripheral and central retinal functions. At 58 years of age: OD Hand motion OS Light perception, Age 17: macular pigment alterations, atrophic spots in retinal periphery. Age 40: extensive, central and midperipheral atrophy, attenuated vessels, large, absolute central scotomas of 60°, nasal constriction. Diagnosis/Initial retinitis pigmentosa Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 7y Phenotype/Onset unknown Protein - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2016-02-22 12:22:09 +01:00 (CET) Date last edited 2020-08-25 10:48:31 +02:00 (CEST)

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