Phenotype #0000302441

Individual ID	00410338
Associated disease	-
Phenotype details	visual acuity of 20/200 or worse, severely constricted visual fields, attenuated retinal vessels, diffuse depigmentation of the retinal pigment epithelium and intraretinal pigment deposits in the periphery; the depigmented patches involved the central macula in siblings with severely decreased acuity; full-field electroretinograms: reduced, reflecting widespread loss of photoreceptor function; 35y: no rod response to single white flashes and computer-averaged cone electroretinograms to 30-Hz white flicker flashes were 0.21�0.35 uV (normal ?50 uV); normal levels of serum vitamin A
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-24 12:53:03 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD