Phenotype #0000308416
| Individual ID |
00416904 |
| Associated disease |
EVR2 |
| Phenotype details |
right eye enucleated due to intraocular tumor suspicion after recurrent iritis, histological examination: severe intraocular inflammation without any malignancy; visual acuity on the left eye remained unchanged until adulthood; last few years a slight decrease of visual acuity; 29y: visual acuity: 20/300 with medium myopia ( -3.0 diopters) and nystagmus; anterior segment: normal; retina: severe temporal dragging of the vessels, including the macula where scar with peripheral hyperpigmentation and central depigmentation was noticed; no exudates present, it cannot be excluded that areas of central and peripheral scars have been partly induced by retinal exudates; peripheral retina: pigmentation between the equator and the ora serrata on the temporal side, nasally, equatorial degenerations present |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, X-linked recessive |
| Diagnosis/Definite |
familial exudative vitreoretinopathy |
| Age/Examination |
29y (29 years) |
| Age/Diagnosis |
- |
| Age/Onset |
0m |
| Phenotype/Onset |
low visual acuity |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-09-09 15:50:29 +02:00 (CEST) |
| Date last edited |
N/A |
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