Global Variome shared LOVD

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Phenotype #0000260112 Individual ID 00364774 Associated disease - Phenotype details On presentation her best-corrected visual acuity was 20/250 OD and 20/32 OS. She had worn spectacle correction for myopic astigmatism since she was a child. Her current refraction was _x005F_x0002_11.50þ5.00_x005F_x0003_085 OD and _x005F_x0002_11.00þ5.00_x005F_x0003_095 OS. No changes in color vision were detected, and there was no nystagmus or ocular misalignment. Intraocular pressure and pupillary examination were unremarkable. Fundus examination revealed atrophy OD and parafoveal yellow flecks OU. No peripheral flecks were noted. Fundus autofluorescence demonstrated central hypofluoresence surrounded by hyperautofluorescent flecks. Diagnosis/Initial Stargardt disease Inheritance Unknown Diagnosis/Definite STGD1 Age/Examination - Age/Diagnosis - Age/Onset 44y Phenotype/Onset decreased central vision Protein - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2021-05-03 14:25:36 +02:00 (CEST) Date last edited N/A

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