Phenotype #0000306973
| Individual ID |
00415176 |
| Associated disease |
- |
| Phenotype details |
history of progressive nyctalopia and visual acuity loss over the last two decades; best-corrected visual acuity: 20/200 in both eyes (with a correction of +12,75 diopter sphere); biomicoscopy: symmetric shallow anterior chambers, with corneal diameters of 12,5mm, and moderate nuclear lens opacity; gonioscopy: open angles; intraocularpressure: 10mmHg; fundoscopy: large optic disc drusen, cystic macular changes, and retinal pigment epithelium clumping and atrophy at the macular region and mid periphery in both eyes, as well as vascular sheathing; biometric scans: short axial length (16.79 mm in the right eye and 15.40 mm in the left eye); electroretinogram: abolished photopic and scotopic light response in both eyes, compatible with RP; optical coherence tomography: macular scans: diffuse increase in retinal thickness and hyporeflective cystic changes at the inner and outer plexiform layers and pocket of subfoveal fluid in the right eye; central foveal thickness right / left eye: 694 +/- 12 / 483 +/- 14 microns in the left eye; central retinal volume, right / left eye: 13.65mm3 / 10.49mm3 for two months; BCVA improved to 20/50, progressive decrease of macular thickness and of cystic changes, more pronounced at the right eye, was observed during the course of topical CAI treatment, and the central macular thickness improved to 355 +/- 12 microns in the right eye (central volume of 10.31mm3) and 361 +/- 22 microns in the left eye (central volume of 10.00mm3) ; macular thickness remained stable after six months of follow up (four months after discontinuation of the treatmen |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
52y (52 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-08-09 12:54:22 +02:00 (CEST) |
| Date last edited |
N/A |
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