Phenotype #0000305589

Individual ID	00413624
Associated disease	-
Phenotype details	best corrected visual acuity: 1.0 both eyes, no nystagmus or strabismus; fundus examination under light-adapted conditions: slight golden appearance, dark-adapted: Mizuo-Nakamura phenomenon not observed after three hours of dark adaptation; fundus autofluorescence: normal; spectral domain optical coherence tomography: unremarkable with the ellipsoid and interdigitation zones intact; electroretinogram: scotopic a-waves extinguished; a-waves of the mixed rod-cone responses markedly reduced, and the b-waves present, but severely reduced - negative-type electroretinograms; amplitudes of the photopic b-waves: severely reduced; implicit times of the cone electroretinograms: delayed
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	congenital stationary night blindness
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	night blindness from childhood
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-07-20 20:53:59 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD