Phenotype #0000305022

Individual ID	00413041
Associated disease	-
Phenotype details	lifelong stable subnormal visual acuity of approximately 20/30, low color discrimination, and photophobia (18y); moderate myopic astigmatism, poor contrast perception, inability to track fast moving objects; no consanguinity, no significant medical or drug history; electroretinogram stable at 4 time points, over an 8-year period, with generalized predominantly inner retinal cone system dysfunction, giving a single flash cone electroretinogram with a distinctive multiphasic b-wave; pattern electroretinogram: delayed and subnormal
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	congenital stationary night blindness
Age/Examination	22y (22 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-07-08 14:54:51 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD