Phenotype #0000308753

Individual ID	00417240
Associated disease	EVR1
Phenotype details	31y: best corrected visual acuity one functional eye: 1.0 with unilateral myopia magna and deep amblyopia with meter chart visual acuity; temporal laser coagulation had been performed 8 years ago; retina: peripheral avascular areas on both sides when the temporal vascular arches were stretched; electroretinogram and electrooculogram: were performed to rule out hereditary retinal dystrophy - standard response within the 95% percentile according to the ISCEV standard; Arden quotient: normal; panel D15 color spot test: unremarkable in the functional eye; 36y: reduced visual acuity to 0.3; vitreofoveal traction at the onset of vitreous detachment with resolution of the foveal depression in optical coherence tomography, after 2 months spontaneous posterior vitreous detachment with visual acuity increasing to 0.8
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	familial exudative vitreoretinopathy
Age/Examination	36y (36 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