Phenotype #0000308412

Individual ID	00416900
Associated disease	EVR2
Phenotype details	blind in the right eye by 13y; right eye: phthisis, atrophy of the iris, a dense cataract and nystagmus; left eye: visual acuity: 4/60, large falciform retinal fold; 18y: left retina detached with a large yellow exudate present underneath the retina; fibrous tissue and vitreous thickening were with neovascularization leading to leakage; deterioration of sight in the left eye treated by cryocoagulation and the patient has subsequently maintained the visual acuity in this eye
Diagnosis/Initial	-
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	familial exudative vitreoretinopathy
Age/Examination	33y (33 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-09 15:34:26 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD