Phenotype #0000301213

Individual ID	00409098
Associated disease	-
Phenotype details	night blindness (30 y), field constriction (40 y), progressive loss of visual acuity (40 y); intellectual disability: retinitis pigmentosa; best corrected visual acuity right-left eye: light perception-light perception; refractive error: +2.0/+0.5; visual field: absolute scotoma; electroretinogram: no data; anterior segment and fundus: anterior segment normal, exotropia; glaucomatous excavation of the optic disc, narrowed vessels, well-demarcated chorioretinal atrophy in the macula, sparse bone spicules in the mid periphery; round, well-demarcated areas of chorioretinal atrophy and pe clumping in the periphery
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	53y (53 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