Phenotype #0000308752

Individual ID	00417239
Associated disease	EVR1
Phenotype details	51y: unilateral blindness; unilateral total detachment of the retina with secondary divergent strabismus diagnosed in the right eye with a mature cataract; left eye: incomplete circular peripheral laser scars with full visual acuity and had been treated 11 years earlier (at the age of 41) in another clinic for suspected Wagner disease (ruled out because there was no peripheral degeneration); peripheral retina: circularly avascular with a wide temporal zone, temporally stretched vascular course with a proliferative fibrotic peripheral vascularization edge and striated vitreous compression papillary to temporal with a still adherent Weiss ring; left eye: electroretinogram: normal; panel D15 color spot test: unremarkable; 55y: no progression in the 4-year follow-up
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	familial exudative vitreoretinopathy
Age/Examination	55y (55 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-14 14:39:02 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD