Phenotype #0000305032

Individual ID	00413051
Associated disease	-
Phenotype details	best corrected visual acuity right, left eye: 20/1008, 20/800; refraction right; left eye: -11.00 DS, -11.00 DS; axial length: 23.29, 23.31; color vision: TCDS/CCI: 449.5/3.84, 382.4/3.27, glare and photosensitivity during childhood; nyctalopia in adolescence; decreased contrast sensitivity, peripheral vision, and color vision loss in the third decade of life; and visual acuity loss in the fourth decade; color vision: abnormal, showed diffuse color defects; bull's eye pattern of retinal pigment epithelial atrophy in the macula and circular patches of retinal pigment epithelial atrophy anterior to the arcades, with retinal vascular attenuation and bone spicule pigmentation; glaucoma with an enlarged cup-disc ratio in each eye and mildly elevated intraocular pressure (21-24 mm Hg) beginning at 40y; visual fields: peripheral islands of vision temporally and inferiorly with central vision loss; spectral domain optical coherence tomography: a vertical scan was obtained as close as possible to the anatomic fovea:hinning and loss of the outer nuclear, inner and outer segment layers; hyperreflective lesions within the attenuated outer nuclear layer in regions where the inner segment ellipsoid portion or inner segment-outer segment junction and external to the external limiting membrane and inner segment ellipsoid or inner segment-outer segment junction was not observed; adaptive optics scanning laser ophthalmoscopy: visual fixation not stable enough in patients
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	-
Age/Diagnosis	-
Age/Onset	45y
Phenotype/Onset	night blindness
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-07-10 12:21:24 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD

CUL3 (cullin 3)

Phenotype #0000305032