Phenotype #0000301498

Individual ID	00409381
Associated disease	BCD
Phenotype details	initial visual acuity right, left eye: 20/40, 20/40; current best corrected visual acuity right, left eye: hand movement, 20/400; refraction right, left eye: plano, plano; initial visual field: right eye: normal peripheral limits, pericentral sensitivity loss (I2 not seen), central relative scotoma (I3 and I4), enlarged blind spot, left eye: normal peripheral limits, pericentral sensitivity loss (I2 not seen), enlarged blind spot; current visual field right/left eye: mild concentric constriction, central scotoma (V4), residual temporal crescen (III4), I2 and I3 not seenmild concentric constriction, central scotoma with small preserved patch nasal to blind spot (V4), nyctalopia, no photophobia, color vision defect: severe R/G; severe B/Y; cornea: very small peripheral crystals; lens: mild lenticular sclerosis, macula: extreme outer retinal and choriocapillaris atrophy, small 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, small scalloped patches of preserved retina in periphery, electroretinogram: absent rod-specific and 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 virtually absent
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	dystrophy, corneoretinal, crystalline, Bietti (BCD)
Age/Examination	49y (49 years)
Age/Diagnosis	-
Age/Onset	31y
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