Global Variome shared LOVD

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Phenotype #0000055841 Individual ID 00076066 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details fundus flavimaculatus, late onset; Best-corrected visual acuity slowly decreased from 20/20 right eye (RE) and 20/30 LE at age 70, to 20/30 RE and 20/40 LE at age 76. Bilateral FFM yellowish flecks in the posterior pole. The “young” flecks, yellowish, sharply outlined and hypofluorescent on FA, turned to “old” flecks, gray, less defined and hyperfluorescent on FA. Two patches of perimacular retinal pigment epithelial atrophy were noted in the left eye at age 76. Dark choroid slowly increased at FA examinations. Retinal flecks, whatever their age, were constantly hypofluorescent on ICG angiography. Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 70y Phenotype/Onset moderate loss of central vision in the left eye Protein - Tumor/MSI - Diagnosis/Criteria - 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 N/A

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