Phenotype #0000308393

Individual ID	00416881
Associated disease	EVR4
Phenotype details	visual acuity: fix-and-follow, minimal in the right eye; intraocular pressure: 18 mm Hg both eyes; no iris or lens abnormality; funduscopy: right eye: extensive exudative maculopathy with shallow retinal detachment and peripheral telengiectatic retinal vessels extending temporally; left fundus: clinically normal; fluorescein angiography: right eye: temporal retinal dragging, extensive peripheral retinal non-perfusion, telangiectatic vessels, left eye: minimal peripheral non-perfusion and vascular looping without dragging, telangiectasia, or leakage; right xanthocoria and slight exotropia; subclinically affected father
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	familial exudative vitreoretinopathy
Age/Examination	1y8m (1 year, 8 months)
Age/Diagnosis	1y8m
Age/Onset	-
Phenotype/Onset	xanthocoria in the right eye, with eventual exotropia
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-09 11:17:36 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD