Phenotype #0000302350

Individual ID	00410245
Associated disease	-
Phenotype details	19y: best corrected visual acuity right, left eye: 6/90, 6/120; 15y: full field electroretinogram, light and dark adaptation: non recordable; funduscopy: bone spicule pigmentation; macular puckering; additional findings
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	19y (19 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-22 11:31:27 +02:00 (CEST)
Date last edited	N/A

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Global Variome shared LOVD