Phenotype #0000347478

Individual ID	00459399
Associated disease	RS1
Phenotype details	see paper; ..., BVCA (R/L) 0.8/0.05; foveo‐lamellar schisis plus peripheral schisis/foveo‐lamellar schisis plus peripheral schisis; schisis right inner nuclear layer/outer nuclear layer/outer plexiform layer/ganglion cell layer, left inner nuclear layer/outer nuclear layer/outer plexiform layer; left vitreous haemorrhage, retinal detachment, cataract; binocular vitreous veils, vascular abnormalities
Diagnosis/Initial	retinoschisis
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	RS1
Age/Examination	9y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-12-24 15:45:13 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD