Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000187822 Individual ID 00248855 Associated disease EVR7 Diagnosis/Initial FEVR Diagnosis/Definite FEVR Phenotype details Presented at 11 years of age with very low vision. Fundus examination showed retinal avascularity, exudation, retinal holes, and bilateral retinal detachment, for which he underwent buckle surgery in both eyes Inheritance Familial, autosomal dominant Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Carmel Toomes Database submission license No license selected Created by Carmel Toomes Date created 2019-07-29 19:09:59 +02:00 (CEST) Date last edited N/A

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