Phenotype #0000259492

Individual ID 00364154
Associated disease -
Phenotype details At age 47 the patient hasn't smoked. Their history was: Negative and their BCVA (Right eye / Left eye) was: 20/50 / 20/200. Color vision was: Deutan. Binocular perimetry was: Paracentral scotoma 10°. Fundus results were: Central macular atrophy with foveal or perifoveal flecks. Autofluorescence results were: Extensive fundus changes. There was Atrophy RPE. Peripapillary Sparing status was: Yes. SD-OCT: Foveal sparing. All components of ERG are within normal ranges.
Diagnosis/Initial Stargardt disease
Inheritance Unknown
Diagnosis/Definite STGD1
Age/Examination -
Age/Diagnosis -
Age/Onset 47y
Phenotype/Onset Decreased VA photophobia
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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