Phenotype #0000302439

Individual ID	00410336
Associated disease	-
Phenotype details	retinal degeneration similar to patients with Ser66Arg; 65y: poor visual acuity (right 20/40, left 20/160); severely reduced electroretinograms (?1.5 uV, normal ?50 uV) that were nevertheless larger than those of patients up to 30 years younger with the Ser66Arg mutation; normal levels of serum vitamin A
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-24 12:53:03 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD