Phenotype #0000305587

Individual ID	00413621
Associated disease	-
Phenotype details	postural orthostatic tachycardia syndrome (POTS) (MIM: 604715); best corrected visual acuity right, left eye: 20/25, 20/20; roughly -3 D myopic; no nystagmus or strabismus; retinal exam: unremarkable except for tilted myopic discs and some myopic depigmentation particularly in the peripapillary area; widefield and central fundus autofluorescence: no retinal degeneration, spectral domain optical coherence tomography: maculae normal; electroretinogram: typical findings of Riggs-type CSNB with no rod response to a weak (0.01) or strong (3.0) scotopic flash, and the combined rod-cone 3.0 scotopic response looked like a cone b-wave, photopic 3.0 cone and flicker responses: essentially normal
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	congenital stationary night blindness
Age/Examination	20y (20 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	severe night blindness
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-07-20 14:43:07 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD