Phenotype #0000308308

Individual ID	00416588
Associated disease	-
Phenotype details	major complaint: difficulty going down steps and curbs in dim light or at night; peripheral vision poor, frequent inability to locate objects; best corrected visual acuity right, left eye: 20/20��2, 20/20��2; slit lamp findings: normal bilaterally; ophthalmoscopy: clear vitreous both eyes, normal discs; both maculae normal without edema; the midperiphery: numerous bone-spicule-like pigment deposits; retinal arterioles: slightly narrowed by comparison to the veins; static perimetry: sensitivity was minimally disturbed in the fovea and central 15 deg; sensitivity zero at most locations beyond 7.5 deg eccentricity, region of preserved function in the lower temporal field; visual thresholds following 45 min of dark adaptation: elevated by 1.5 log unit; full-field electroretinograms: standard rod response was not detectable; the maximum rod photoresponse to a 4.2 log scot td-sec flash:10 uV, compared to a lower limit of normal of 155 uV, cone b-wave amplitude to 31 Hz flicker was 6.4 uV, compared to normal of 35 uV., cone b-wave implicit time delayed by 9.3 msec; the maximum cone photoresponse obtained in the presence of a 3.2 log td background:7.7 uV, compared to a lower limit of normal of 33.7 uV
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	31y (31 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