Global Variome shared LOVD

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Phenotype #0000055909 Individual ID 00076134 Associated disease STGD1 Phenotype details Stargardt disease; At 52 years, visual acuity of the right eye was counting fingers whereas visual acuity of her left eye was hand movements. Funduscopy revealed normal optic disks, mild attenuation of the vessels, and large atrophic lesions in both maculae. Lobular atrophy of the RPE was seen in the mid and peripheral regions. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 11y 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 N/A

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