Phenotype #0000308454

Individual ID 00416943
Associated disease EVR2
Phenotype details 1y: fundoscopy (general anaesthesia): inferotemporal peripheral vascular and gliotic changes in the right eye and a dragged macula with retinal exudation in the left eye; right eye treated with retinal laser photocoagulation and the left developed a total retinal detachment
Diagnosis/Initial -
Inheritance Familial, X-linked
Diagnosis/Definite familial exudative vitreoretinopathy
Age/Examination 2y (2 years)
Age/Diagnosis -
Age/Onset 1y
Phenotype/Onset left esotropia and an abnormal red reflex in the left eye
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-09-12 11:09:50 +02:00 (CEST)
Date last edited N/A

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