Phenotype #0000308691

Individual ID	00417181
Associated disease	EVR1
Phenotype details	very little vision (hand movements only) in the left eye - microphthalmic with evidence of posterior lenticonus with lens opacity, a degenerative vitreous with a band extending from a small pale optic disc head with extensive chorioretinal mottling and attenuated retinal vasculature; right eye: was highly myopic with some cortical lens opacities vitreous was degenerative with a small myopic optic disc and diffuse nonspecific pigmentary changes in the retina; also has characteristics suggestive of additional disea
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	familial exudative vitreoretinopathy
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-13 15:10:40 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD