Phenotype #0000326916

Individual ID 00436832
Associated disease RD
Phenotype details fundus macular atrophy; FF-ERG scotopic in normal rangei, photopic mildly reduced; fundus central mottled hypoautofluorescence with few hyperautofluorescent speckles, surrounded by hyperautofluorescent rim both eyes; OCT irregularity ellipsoid zone and focal thickening retinal pigmented epithelium, with small hyperreflective linear lesions migrating above external
Diagnosis/Initial macular dystrophy with cone dysfunction
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 39y (39 years)
Age/Diagnosis 37y
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 11:31:59 +02:00 (CEST)
Date last edited 2024-02-16 13:39:27 +01:00 (CET)

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