Phenotype #0000296718
| Individual ID |
00404129 |
| Associated disease |
- |
| Phenotype details |
reduced vision in both eyes that started when she was about 6 years old. At examination, her best corrected visual acuity right, left eye: 20/25, 20/50, fundoscopy: diffused retinal pigment epithelium dystrophy with yellowish deposits at the posterior pole and macular edema both eyes, in medical records no vitelliform disc detected during the course of the disease; optical coherence tomography: bilateral macular cystoid spaces; scotopic electroretinogram: amplitude reduced by about 50% of the average value of the control group; photopic electroretinogram amplitude: slightly reduced (about 25%); electroculogram Arden test right, left eye: 1.20, 1.50; fluorescein angiography showed macular hyperfluorescence and small hyperfluorescent spots at mid-periphery, with a higher concentration around the optic disc; in 2008, the patient had received photodynamic therapy for suspected choroidal neovascularization in right eye |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
autosomal recessive bestrophinopathy (ARB) |
| Age/Examination |
- |
| Age/Diagnosis |
16y |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-02-27 23:25:19 +01:00 (CET) |
| Date last edited |
N/A |
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