Phenotype #0000308395
| Individual ID |
00416883 |
| Associated disease |
EVR4 |
| Phenotype details |
total tractional retinal detachment requiring multiple vitreoretinal surgeries in his right eye; last-recorded visual acuity 3 months earlier, right/left eye: 20/100, 20/50; ophthalmological examination at 17y: a decrease in visual acuity in his left eye to 20/63; fundus: temporal dragging of retinal vessels, peripheral exudation, and vitreoretinal tractions without retinal detachment; spectral-domain optical coherence tomography: vitreomacular traction with intraretinal cysts; central macular thickness: 283 um; re-evaluation 15 days later: progression to a lamellar macular hole; surgical procedure was suggested, 1 week later (before the surgery could be performed) acute metamorphopsia, visual acuity drop to 20/200; spectral-domain optical coherence tomography: full-thickness macular hole. Surgical management by 23-gauge pars plana vitrectomy with associated encircling buckle; posterior vitreous detachment was induced, internal limiting membrane peeled after staining with brilliant blue G, and SF6 was used as gas tamponade; 3 months postoperatively, visual acuity: 20/25. spectral-domain optical coherence tomography: sustained closure of the macular hole, with associated thinning of the neurosensory retina (central macular thickness: 166 um) |
| Diagnosis/Initial |
- |
| Inheritance |
Isolated (sporadic) |
| Diagnosis/Definite |
familial exudative vitreoretinopathy |
| Age/Examination |
17y (17 years) |
| Age/Diagnosis |
13y |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-09-09 11:38:01 +02:00 (CEST) |
| Date last edited |
N/A |
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