Phenotype #0000301976

Individual ID	00409861
Associated disease	-
Phenotype details	best corrected visual acuity right, left eye: 20/16, 20/20; refraction right eye: +1.000.50x25, left eye: plano 1.00x145; lens: clear; ophthalmoscopy: mild pallor optic discs, severely attenuated vessels, preserved retinal pigment epithelium macular region with fibrosis inner limiting membrane, foveal cyst right eye, normal foveal reflex left eye, intraretinal hemorrhages and anomalies of the arterioles both eyes, retinal pigment epithelium atrophy in the periphery with intraretinal pigmentations; full-field electroretinogram: dark-adapted: no measurable isolated rod function; remnant of mixed responses; light-adapted: measurable but significantly reduced responses in single flash and 30 Hz with near normal implicit times; perimetry: constricted up to 10 degrees with large temporal and small nasal crescent both eyes; color vision test: right eye: (de)saturated normal, left eye: saturated normal; desaturated minor errors; optical coherence tomography: intact inner and outer segments in the macular region, foveal cyst right eye; thickened retinal layers superior and inferior of the macula; fundus autofluorescence: hyperfluorescent ring around the macula; fluorescein angiography: leakage along the superior and inferior vascular arcade and some staining at the fovea
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	47y (47 years)
Age/Diagnosis	33y
Age/Onset	25y
Phenotype/Onset	visual field loss; night blindness since 25y
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-12 15:18:16 +02:00 (CEST)
Date last edited	N/A