Phenotype #0000308311

Individual ID	00416591
Associated disease	-
Phenotype details	night vision and side vision impairment, poor central vision; ophthalmoscopy: clear vitreous both eyes and normal discs; both maculae: normal without edema; the midperiphery - numerous bone-spicule-like pigment deposits; retinal arterioles were - slightly narrowed by comparison to the veins; best corrected visual acuity right, left eye: 20/20-2, 20/20-2; visual field: Humphrey perimetric values could only be obtained from the central four locations on the 30-2 field; all locations decreased in sensitivity by at least 20 dB with the exception of the fovea, where sensitivity within the normal range; full-field electroretinograms: standard rod response was not detectable, as was the maximum rod photoresponse; cone b-wave amplitude to 31 Hz flicker was 0.5 uV, compared to a lower limit of normal of 35 uV; cone b-wave implicit time was within the normal range
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	41y (41 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-05 15:54:25 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD