Phenotype #0000317801

Individual ID	00426646
Associated disease	-
Phenotype details	decimal best corrected visual acuity and refraction right, left eye: 0.35 (+ 2.50 diopter sphere) / 0.2 (+ 3.25 diopter sphere), 5y: best corrected visual acuity: nearly 1.0; slit-lamp examination: no remarkable findings; retinal examination: gray discoloration within the vascular arcade in the fundus photographs, fundus autofluorescence: hypoautofluorescent macular area with a hyperautofluorescent ring; optical coherence tomography: disrupted ellipsoid zone with foveal thinning; dark-adapted full-field electroretinogram right eye: non-recordable rod response to a weak flash (dark adaptation 0.01), severely decreased a- and b-wave responses to a strong flash (dark adaptation 3.0), but notably about one-third of normal response to a stronger flash (dark adaptation 200)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	congenital stationary night blindness and cone-rod dystrophy
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-12-02 12:04:56 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD