Phenotype #0000302345

Individual ID	00410241
Associated disease	-
Phenotype details	best corrected visual acuity right, left eye: 20/70, hand motions; refraction: right, left eye: 3.75+ 1.00x180,-2.00 sphere; slit-lamp examination: clear corneas and deep anterior chambers, clear lens, no vitreous cells; papillary response: a 0.9 log unit relative afferent papillary defect; Goldmann perimetry: a greater loss of sensitivity in the left eye than in the right; fundus: optic discs with fairly normal color, markedly attenuated arterioles, extensive bone spicule-like pigmentation in all four quadrants of both eyes, densest at the equator, this intraretinal pigment was admixed with lighter colored deposits at the level of the retinal pigment epithelium, small patches of geographic atrophy near fixation in both eye,full-field electroretinography: no responses
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	32y (32 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-21 09:23:26 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD