Phenotype #0000301216

Individual ID	00409101
Associated disease	-
Phenotype details	night blindness (34 y), field constriction (36 y), progressive loss of visual acuity (37 y), glare sensitivity (37 y); intellectual disability: retinitis pigmentosa; best corrected visual acuity right-left eye: 40/200-counting fingers; refractive error: +0.5+0.75; visual field: concentric constriction with remaining central island right eye; absolute scotoma left eye; electroretinogram: scotopic: not detectable; photopic: not detectable; anterior segment and fundus: anterior segment normal; slight pallor of the optic disc, narrowed vessels, well-demarcated polymorph chorioretinal atrophy in the macula, sparse bone spicules in the mid periphery, single round, well-demarcated areas of chorioretinal atrophy in the periphery
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	49y (49 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-30 20:17:24 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD