Phenotype #0000301497

Individual ID	00409380
Associated disease	BCD
Phenotype details	initial visual acuity right, left eye: 20/20, 20/20; current best corrected visual acuity right, left eye: 20/20, 20/20; refraction right, left eye: 1.25 0.5 x 105deg, 1.0 0.75 x 77deg; initial visual field: not available; current visual field both eyes: normal outer boundaries with III4e, decreased sensitivity and “patchy” defects with I4e and I3e targets , nyctalopia, no photophobia, color vision defect:present; cornea: clear; lens: clear, macula: none commented, peripheral retina: optic disks vital, peripapillary atrophy, vessels moderately attenuated, posterior pole with patchy retinal pigment epithelium-atrophy and crystalline deposits, some pigment clumps, full-field electroretinogram: scotopic and photopic responses on the lower normal limits, somewhat delayed it; multifocal electroretinogram: central responses with almost normal amplitudes and it, in outer rings it delayed, amplitude subnormal; fundus autofluorescence and optical coherence tomography: retinal atrophy, crystalline deposits, centralina (fovea) with almost intact photoreceptors; patient notes central vision defects and difficulty reading
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	dystrophy, corneoretinal, crystalline, Bietti (BCD)
Age/Examination	41y (41 years)
Age/Diagnosis	-
Age/Onset	20y
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