Phenotype #0000305028

Individual ID	00413047
Associated disease	-
Phenotype details	nyctalopia first reported in late teenage years, photophobia in the mid-twenties; visual acuity: 0.1 (LogMAR) in the early 30s, deteriorating to “hand movements” by the early 40s; severe color vision defect, low myopic refractive error; fundus: vessel attenuation, diffuse retinal pigment epithelial changes, sparse bone spicule pigment migration in the retinal periphery in the younger patients; with disease progression - dense pigment migration and atrophy both at the macula and in the periphery; electroretinography: both rod and cone respo
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	40y (40 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-07-08 20:51:04 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD