Phenotype #0000301496
| Individual ID |
00409379 |
| Associated disease |
BCD |
| Phenotype details |
initial visual acuity right, left eye: not available; current best corrected visual acuity right, left eye: hand movement, hand movement; refraction right, left eye: 1.75 0.5 x 76deg, 0.75 1.0 x 66deg; initial visual field: not available; current visual field both eyes: residual islands peripheral (target V4e), nyctalopia, no photophobia, color vision defect: none; cornea: limbus: crystalline deposits; lens: crystalline deposits, posterior subcapsular cataract, macula: huge macular hole with neurosensoric detachment on right eye, macula atrophic left eye, peripheral retina: optic disks vital, narrow vessels, generalized retinal pigment epithelium atrophy, crystalline deposits, electroretinogram: non recordable; fundus autofluorescence and optical coherence tomography: right eye: huge macular hole and neurosensoric detachment left eye: retinal atrophy, crystalline deposits; depression, elevated blood pressure, elevated cholesterol levels |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
dystrophy, corneoretinal, crystalline, Bietti (BCD) |
| Age/Examination |
54y (54 years) |
| Age/Diagnosis |
- |
| Age/Onset |
24y |
| 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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