Global Variome shared LOVD

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Phenotype #0000055878 Individual ID 00076103 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Stargardt disease/Cone-rod dystrophy; Initial complaints of blurred central vision without a history of night blindness, poor visual acuity (typically 20/100 or worse, with progressive decline from an early age), impairment of color vision, funduscopic evidence of trophic macular degeneration, peripheral disturbances including pigment clumping and/or pigment epithelial thinning, and greater or earlier loss of cone than rod ERG amplitude; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results. Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset 12y Phenotype/Onset unknown 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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