Phenotype #0000255926

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00360521
Associated disease	-
Phenotype details	visual acuity: counting fingers in both eyes and was unable to perform a color vision test, due to his poor visual acuity. He had an absolute central scotoma of 30 degrees in each eye and normal peripheral visual field.
Diagnosis/Initial	central areolar choroidal dystrophy
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	40y
Phenotype/Onset	Decreased central visual acuity and photophobia
Protein	-
Owner name	Manon Peeters
Database submission license
Created by	Johan den Dunnen
Date created	2021-04-06 16:50:09 +02:00 (CEST)
Date last edited	N/A