Phenotype #0000326915

Individual ID 00436831
Associated disease RD
Phenotype details fundus maculopathy; FF-ERG scotopic in normal rangei, photopic in normal range; fundus central mottled hypoautofluorescence surrounded by hyperautofluorescent rim both eyes, few hyperautofluorescent speckles right eye; OCT irregularity ellipsoid zone and focal thickening retinal pigmented epithelium, with small hyperreflective linear lesions migrating above external limiting membrane
Diagnosis/Initial macular dystrophy, no cone dysfunction
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 50y (50 years)
Age/Diagnosis 42y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Tamar Ben-Yosef
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Tamar Ben-Yosef
Date created 2023-10-10 11:22:10 +02:00 (CEST)
Date last edited 2024-02-16 13:34:32 +01:00 (CET)

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