Phenotype #0000297880
| Individual ID |
00405332 |
| Associated disease |
- |
| Phenotype details |
at presentation 9y: best-corrected visual acuity (BCVA) right, left eye: 20/50, 20/500 left eye; fundus: retinal thickening at the right macula and extensive macular scarring left eye; fundus autofluorescence and optical coherence tomography consistent with ARB; electrooculography Arden ratios right/left eye reduced: 1.20 / 1.40; fluorescein angiography and indocyanine green angiography: active choroidal neovascularization right eye (CNV), which was confirmed on OCT angiography (OCTA); two monthly intravitreal injections of ranibizumab (0.5 mg per 0.05 mL); 1m after the second injection BCVA: 20/63, response of the CNV to the treatment - decreased vascular flow signal within the neovascular network. 2 years of follow-up and seven further intravitreal injections of ranibizumab, BCVA in the right eye dropped to 20/200 because of recurrent CNV exudation and progressive retinal scarring; two satellite progressive fibrotic lesions were observed temporal to the macula |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
autosomal recessive bestrophinopathy (ARB) |
| Age/Examination |
11y (11 years) |
| Age/Diagnosis |
6y |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-03-17 10:57:25 +01:00 (CET) |
| Date last edited |
N/A |
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