Phenotype #0000302340

Individual ID	00410236
Associated disease	-
Phenotype details	history: night blindness and visual field loss noted in second decade; best corrected visual acuity right, left eye Snellen (logMAR): 0.05 (1.3) ; amblyopia, 0.5 (0.3); refraction right/left eye: -0.75 to 2.25 x 86deg, -2.00; lens: posterior subcapsular cataract (visually disturbing); ophthalmoscopy: mild pallor optic discs; severely attenuated vessels; mild bull's eye-like lesions; epiretinal changes along vascular arcade; round lesions with retinal pigment epithelium atrophy periphery with bone-spicule pigmentations; Goldmann perimetry: constricted up to 5-10deg both eyes; optical coherence tomography: preserved retinal pigment epithelium and photoreceptors in the macular region; fundus autofluorescence: hyper-autofluorescent ring around the fovea, with hypo-autofluorescent spots in the posterior pole and midperip
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	52y (52 years)
Age/Diagnosis	-
Age/Onset	31y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-20 15:46:36 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD