Phenotype #0000201814

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00263907
Associated disease	-
Phenotype details	onset childhood, night blindness; extensive atrophic changes posterior pole and peripheral retina with bone spicule pigmentation at midperiphery; visual acuity OD 20/30, OS 20/200
Diagnosis/Initial	retinitis pigmentosa
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	RP-73
Age/Examination	60y (60 years)
Age/Diagnosis	34y
Age/Onset	-
Phenotype/Onset	night blindness
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-08-30 20:02:19 +02:00 (CEST)
Date last edited	2019-08-31 14:29:38 +02:00 (CEST)

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