Phenotype #0000116773

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00143995
Associated disease	-
Phenotype details	At age 33: visual acuity: OD 20/40, OS 20/40; mild pale optic disc and narrowed blood vessels, perifoveal atrophy; relative preseration of foveal lamination; loss of AF outside the vascular arcade also associated with perifoveal loss of AF
Diagnosis/Initial	retinitis pigmentosa
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	13y
Phenotype/Onset	Night blindness since age 13
Protein	-
Owner name	Rob W.J. Collin
Database submission license
Created by	Johan den Dunnen
Date created	2017-11-28 22:45:32 +01:00 (CET)
Date last edited	2020-08-25 10:48:31 +02:00 (CEST)