Phenotype #0000301493

Individual ID	00409376
Associated disease	BCD
Phenotype details	initial visual acuity right, left eye: not available; current best corrected visual acuity right, left eye: 20/100, 20/50; refraction right, left eye: 0.50 +2.00 x 180deg, plano + 1.50 x 180deg; initial visual field: not available; current visual field right/left eye: 70deg (V4e) 65deg (III4e) / 70deg (V4e) 65 (III4e), nyctalopia, no photophobia, color vision defect: none; cornea: clear; lens: early cortical changes left eye, macula: relative foveal sparing, peripheral retina: areas of retinal pigment epithelium atrophy and choroidal sclerosis normal vessel caliber, peripheral bony spicules, electroretinogram: cone: 25% residual function, rod: 20% residual function; fundus autofluorescence and optical coherence tomography: fundus autofluorescence: patchy hypofluorescence domain optical coherence tomography: intraretinal and subretinal crystals and edema
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	dystrophy, corneoretinal, crystalline, Bietti (BCD)
Age/Examination	57y (57 years)
Age/Diagnosis	-
Age/Onset	30y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-08 14:58:33 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD