Phenotype #0000317804

Individual ID	00426649
Associated disease	-
Phenotype details	never complained of visual symptoms except for night blindness; no systemic medical history; decimal best corrected visual acuity and refraction right, left eye: 1.2 (- 1.75 diopter sphere) / 1.5 (- 1.75 diopter sphere; slit-lamp examination: no abnormal findings in the anterior segment and media. funduscopy, fundus autofluorescence, cross-sectional macular optical coherence tomography: no remarkable findings; full field electroretinography: non-recordable rod response to a weak flash (dark adaptation 0.01 cd s m-2; dark adaptation 0.01) in rod electroretinogram but at least half of a- and b-wave responses in dark adaptation 3.0, dark adaptation 10.0, and dark adaptation 200 electroretinogram after 30 min of dark-adaptation in the right eye, as well as after 24 h of dark adaptation in the left eye; dark adaptation 3.0 responses: distinguishing delayed and broadened a-waves and negative-type waveforms (b/a ratio less than 1.0); photopic cone (light-adapted 3.0 cd s m-2; light-adapted 3.0) and 30-Hz flicker (light-adapted 3.0 flicker) responses: completely normal, clear on and off responses observed
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	congenital stationary night blindness
Age/Examination	34y (34 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