| Individual ID |
00416871 |
| Associated disease |
OPPG |
| Phenotype details |
FEVR (HP:0030490), severe osteoporosis (HP:0000939); familial exudative vitreoretinopathy stage right/left eye: 5A/3B; bone mineral density: osteoporosis; 1m: retinopathy from the first month of life with complete retinal detachment in the right eye; 10m: fundus examination conducted under general anesthesia: familial exudative vitreoretinopathy diagnosis, stage right/left eye: 5A/3B; total retinal detachment right eye with disorganised proliferative tissue; vitreoretinal surgery with lensectomy, vitrectomy and membrane peeling; radial retinal fold associated with a small area of persistent vascularization extending into the vitreal cavity in the left eye; lest eye fluorescein angiography: wide area of the peripheral retina devoid of vascularization and with vascular leakage treated by Argon laser ablation; bone mineral density: severe osteoporosis; current whole body bone mineral density: 0.5 g/cm2 (Z-score: -2.5 SD) |
| Diagnosis/Initial |
- |
| Inheritance |
Familial |
| Diagnosis/Definite |
osteoporosis-pseudoglioma syndrome (OPPG) |
| Age/Examination |
04y (4 years) |
| Age/Diagnosis |
00y10m |
| Age/Onset |
00y01m |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-09-08 21:04:11 +02:00 (CEST) |
| Date last edited |
2022-09-09 10:29:21 +02:00 (CEST) |
