Phenotype #0000259490

Individual ID 00364152
Associated disease -
Phenotype details At age 22 the patient hasn't smoked. Their history was: Negative and their BCVA (Right eye / Left eye) was: 20/200 / 20/160. Color vision was: Tetartan. Binocular perimetry was: Central scotoma 20°. Fundus results were: Central macular atrophy with foveal or perifoveal flecks + numerous flecks, extending beyond the vascular arcades or the optic disc. Autofluorescence results were: Extensive fundus changes. There was No atrophy RPE. Peripapillary Sparing status was: Flecks. SD-OCT: No foveal sparing. Abnormal amplitudes and implicit times in response to all the light adapted stimulations.
Diagnosis/Initial Stargardt disease
Inheritance Unknown
Diagnosis/Definite STGD1
Age/Examination -
Age/Diagnosis -
Age/Onset 22y
Phenotype/Onset Decreased VA
Protein -
Owner name Stéphanie Cornelis
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Stéphanie Cornelis
Date created 2021-05-03 14:25:36 +02:00 (CEST)
Date last edited N/A

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