Phenotype #0000304782

Individual ID	00412791
Associated disease	-
Phenotype details	night and peripheral vision disturbances beginning in the third decade of life; 30y: best corrected visual acuity right, left eye: 20/30, 20/20, ophthalmoscopy: mild peripheral pigmentary retinopathy without apparent regional predilection; kinetic visual fields with a large target (V-4e): symmetrical and full; small target (I-4e): only a central island with a relative paracentral scotoma; rod sensitivity: normal near fixation, markedly reduced in the midperiphery, but less abnormal in the far periphery; long/middle wavelength (L/M) cone sensitivity: normal at fixation and at some loci in the far periphery; the midperiphery showed greater loss of sensitivity than other regions; rod sensitivity loss was at least 2 log units greater than cone sensitivity loss; rod and cone electroretinograms: abnormal; rod ERG b-waves markedly reduced in amplitude (31 uV; normal mean +/- SD = 299 +/- 52 uV). Both a-wave (40 uV; normal: 297 +/- 65 uV) and b-wave (64 uV; normal 497 +/- 111 uV) of the mixed cone-rod ERG were reduced in amplitude (approximately 10% of mean normal); cone ERGs amplitudes: also reduced but to a lesser extent (approximately 30% of mean normal); flicker timing: delayed (45 ms; normal 30 +/- 1.2 ms); optical coherence tomography: cross-sectional images of the central retina in the left eye - abnormal retinal architecture in the patient, the fovea thickened, cystoid macular edema, the adjacent superior retina was thinner than normal; longitudinal reflectivity profiles at the fovea and parafovea: although retinal thickness at the fovea was increased, the double-peaked outer retina-choroidal complex (ORCC) was preserved, consistent with normal visual acuity and normal cone sensitivity at fixation in this eye; superior retinal locus: reduced OCT thickness (from vitreoretinal interface to ORCC offset) and only a single-peaked ORCC
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
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	2022-07-04 20:28:37 +02:00 (CEST)
Date last edited	N/A