Phenotype #0000264655

Individual ID 00369317
Associated disease -
Phenotype details The BCVA (logMAR) RE/LE, was 29y: 0,8/1,0 58y: CF/CF, the VF RE/LE (RE/LE VFI %) was 58y: central scotoma (47/50).. The Fundus examination was 58y: macular RPE atrophy, NV, atrophy OpD.. The FAF was NA. The OCT was 58y: severe central NE thinning. and the Vision electrophysiology was NA. Additional findings were: Myopia
Diagnosis/Initial Stargardt disease
Inheritance Unknown
Diagnosis/Definite STGD1
Age/Examination -
Age/Diagnosis -
Age/Onset 27y
Phenotype/Onset 30s: decr VA, photo; 50s: dyschro.
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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.