Global Variome shared LOVD

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Phenotype #0000056259 Individual ID 00076484 Associated disease STGD1 Phenotype details Stargardt disease; Photoreceptor loss (foveal optical gap), thinner ONL and normal RPE. Absolute scotoma in the central 2 degrees OD and decreased sensitivity by 18 dB in the central 2 degrees OS, eccentric PRL (superior retina), presence of a ring of increased autofluorescence surrounding an area of decreased autofluorescence, visual acuity: OD 20/40, OS 20/25.; y20, visual acuity OD 20/150, OS 20/150, bull's eye maculopathy. Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 14y Phenotype/Onset decreased visual acuity 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 N/A

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