Phenotype #0000326912

Individual ID 00436811
Associated disease RD
Phenotype details fundus macular atrophy; FF-ERG scotopic in normal rangei, photopic a-wave in normal range/b-wave mildly reduced; fundus central ring mottled hypoautofluorescence, surrounded by hyperautofluorescent ring; OCT central outer retinal loss both eyes
Diagnosis/Initial macular dystrophy with cone dysfunction
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 29y (29 years)
Age/Diagnosis 26y
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 2023-10-09 09:32:27 +02:00 (CEST)
Date last edited 2024-02-16 13:44:14 +01:00 (CET)

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