Phenotype #0000308695

Individual ID	00417185
Associated disease	EVR1
Phenotype details	whole family description: manifested ophthalmic features within the first decade of life, most severely visually disabled by the second decade; untreated members of this family had bilateral cicatrized tractional retinal detachments with subretinal cholesterol crystals and chronic intraretinal exudates, no asymptomatic carriers of this mutation were identified, but only 6 affecteds had DNA analysis
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