Phenotype #0000301500

Individual ID	00409383
Associated disease	BCD
Phenotype details	initial visual acuity right, left eye: 20/30, 20/25; current best corrected visual acuity right, left eye: 20/40, 20/30; refraction right, left eye: plano, plano; initial visual field: not available; current visual field right/left eye: mild concentric constriction, enlarged blind spot (V4) considerable sensitivity loss, doughnut shaped annular scotoma (I4), I2 and I3 not seen / considerable concentric constriction, enlarged blind spot (V4) considerable sensitivity loss, doughnut shaped annular scotoma (I4), I2 and I3 not seen, nyctalopia, no photophobia, color vision defect: medium R/G defect; severe B/Y; cornea: clear; lens: clear, macula: patchy outer retinal and choriocapillaris atrophy with fine white inner retinal crystals, peripheral retina: patchy outer retinal and choriocapillaris atrophy with fine white retinal crystals mostly in midperiphery, spicular inner retinal pigment migration, with some larger pigment patches, electroretinogram: absent rod-specific responses; residual cone-specific responses; fundus autofluorescence and optical coherence tomography: outer retinal atrophy with fine retinal crystals at all levels, crystals most visible on infrared and redfree reflectance imaging, blue light fundus autofluorescence shows hypofluorescent scalloped patches surrounded by thin interconnecting bridges of normo- and hyperautofluorescence
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	dystrophy, corneoretinal, crystalline, Bietti (BCD)
Age/Examination	38y (38 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