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 |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-05-08 14:58:33 +02:00 (CEST) |
| Date last edited |
N/A |
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