Congenital stationary night blindness (CSNB), apparently inherited in an autosomal recessive manner, was observed in a litter of Briard dogs in Sweden. Of nine litter mates five had nyctalopia. The results of different clinical tests, including electroretinography (ERG), were compared with the results found in four human cases of CSNB, three of which were most probably associated with autosomal...

Test code: OP1201 The Blueprint Genetics Congenital Stationary Night Blindness Panel is a 17 gene test for genetic diagnostics of patients with clinical suspicion of congenital stationary night blindness. The panel covers genes associated with autosomal recessive, autosomal dominant and X-linked forms of congenital stationary night blindness (CSNB). The clinical utility of this diagnostic panel...

PURPOSE High myopia is a common genetic variant that severely affects vision. Genes responsible for myopia without linked additional functional defects have not been identified. Mutations in the nyctalopin gene (NYX) located at Xp11.4 are responsible for a complete form of congenital stationary night blindness (CSNB1). High myopia is usually observed in patients with CSNB1. This study was desig...

We investigated abnormalities of the retinal cone ON- and OFF-pathways in 24 males with Schubert-Bornschein congenital stationary night blindness (CSNB). Substantial differences were found between both CSNB types. In incomplete type, a-, b- and d-waves were reduced and delayed, whereas in complete type only the b-wave showed significant changes. Oscillatory potentials (OPs) were not discernible...

Previous studies have reported that subjects affected with congenital stationary night blindness and myopia demonstrated some photopic (cone) abnormalities in their electroretinogram (ERG). By comparing the photopic ERG elicited with a threshold and a suprathreshold stimulus it was found that, at threshold, no significant differences were noted both in the peak time and in the amplitude of ERGs...

purpose: to present 3 rare cases of benign flecked retina syndrome. patients and finding: a 19-year-old female patient presented with fundus albipunctatus appearance in fundoscopy without night blindness and normal dark adaptation time on electeroretinography (erg). after 9 years of follow up, no change in visual acuity, erg, or other ophthalmologic examinations was seen. two members of her fam...

Test code: OP1201 The Blueprint Genetics Congenital Stationary Night Blindness Panel is a 17 gene test for genetic diagnostics of patients with clinical suspicion of congenital stationary night blindness. The panel covers genes associated with autosomal recessive, autosomal dominant and X-linked forms of congenital stationary night blindness (CSNB). The clinical utility of this diagnostic panel...

Light-dependent conductance changes of voltage-gated Cav1.4 channels regulate neurotransmitter release at photoreceptor ribbon synapses. Mutations in the human CACNA1F gene encoding the α1F subunit of Cav1.4 channels cause an incomplete form of X-linked congenital stationary night blindness (CSNB2). Many CACNA1F mutations are loss-of-function mutations resulting in non-functional Cav1.4 channel...

BACKGROUND Poor health literacy is often a key cause of lack of or delayed uptake of health care services. The aim of this study was to assess the health literacy of common ocular diseases, namely cataract, glaucoma, night blindness, trachoma and diabetic retinopathy in Nepal. METHODS A cross sectional study of 1741 participants randomly selected from non-triaged attendants in the outpatient ...

purpose : to evaluate the incidence of leber’s congenital amaurosis (lca) in low vision children referred to electrophysiology ward of farabi eye hospital , and review the clinical features of disease and electroretiongraphy (erg) test values to confirm the diagnosis and severity of the disease in iran . design: prospective observational case series methods : two-hundred and fifteen cases of lo...