Phenotype #0000326891

Individual ID 00436789
Associated disease RD
Phenotype details macular atrophy; FF-ERG scotopic a-wave in normal range/b-wave moderately reduced, photopic moderately reduced; fundus complete hypoautofluorescence extending to arcades, surrounded by hyperautofluorescent speckled changes; OCT complete retinal pigmented epithelium and outer retinal atrophy, surrounded by focal retinal pigmented epithelium irregularities
Diagnosis/Initial macular dystrophy with cone dysfunction
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 50y (50 years)
Age/Diagnosis 25y
Age/Onset -
Phenotype/Onset -
Protein benyosef
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 2023-10-07 12:15:43 +02:00 (CEST)
Date last edited 2024-02-15 22:14:57 +01:00 (CET)

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