Phenotype #0000224139

Individual ID	00296738
Associated disease	-
Phenotype details	8-9y-night and side vision disturbances, 30y-diagnosed retinitis oigmentosa, progressive vision loss; 52y-visual acuities were R 20/400, L 20/40 (no significant refractive errors), intraocular pressures normal (16 mm Hg), minimal cataracts, visual fields restricted to small central island each eye; 73y-visual acuities R 20/400, L motions vision, central island visual field detectable right eye only, funduscopic revealed dense pigmentary abnormalities; no family history
Diagnosis/Initial	retinitis pigmentosa
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	RP77
Age/Examination	73y (73 years)
Age/Diagnosis	30y
Age/Onset	-
Phenotype/Onset	<9y
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-04-12 10:02:24 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD