Phenotype #0000300947

Individual ID	00408829
Associated disease	-
Phenotype details	best corrected visual acuity right/left eye: 1/0.8, refraction right/left eye: +1.25/+0.75, color vision: Hardy-Rand-Rittler plates: both eyes: mild red-green defect, mild blue-yellow defect; Panel D-15: right eye: mild errors: no specific axis; left eye: saturated version: 1 error; desaturated version: tritan defect., funduscopy: mild pallor optic discs, attenuated vessels, yellowish discoloration of the macula with rpe changes, mid-perpiheral rpe atrophy with bone-spicule pigmentations, autofluoresence: spotty hypoautofluorescence in the macula encirceld by relative hyperautofluorescence, loss of autofluorescence along vascular arcades, optical coherence tomography: intact outer retina layers posterior pole, visual field: Goldmann: altitudinal defect (upper quadrants) with midperiheral absolute scotoma lower quadrants , electroretinogram: full field: dark adapted: remnant isolated rod responses, significantly reduced mixed responses with prolonged implicit times a-wave, normal implicit times b-wave. light adapted: 30 hz flicker: (mildly) reduced with prolonged implicit times, single flash responses: (mildly) reduced amplitudes with prolonged implicit times. generalised retinal dysfunction with rod-cone pattern.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	55y (55 years)
Age/Diagnosis	-
Age/Onset	53y
Phenotype/Onset	-
Protein	significantly decreased protein level at the ciliary base
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-28 19:35:04 +02:00 (CEST)
Date last edited	N/A