PURPOSE Congenital stationary night blindness is a nonprogressive retinal disorder manifesting as impaired night vision and is generally associated with other ocular symptoms, such as nystagmus, myopia, and strabismus. This study was conducted to further investigate the genetic basis of CSNB in a consanguineous Pakistani family. METHODS A consanguineous family with multiple individuals manife...

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...

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...

Patients with congenital achromatopsia and congenital stationary night blindness have been known to show a transient pupillary constriction to darkness. We examined 50 normal subjects and 108 patients with retinal and optic nerve dysfunction to see if any had an initial pupillary constriction to darkness. We used a new infrared television apparatus. Four patients with congenital stationary nigh...

OBJECTIVE To investigate the relative frequency of the genetic causes of the Schubert-Bornschein type of congenital stationary night blindness (CSNB) and to determine the genotype-phenotype correlations in CSNB1 and CSNB2. DESIGN Clinic-based, longitudinal, multicenter study. PARTICIPANTS A total of 39 patients with CSNB1 from 29 families and 62 patients with CSNB2 from 43 families. METHO...

A scotopic electroretinogram with an a-wave amplitude larger than the b-wave amplitude traditionally is termed 'negative'. Six male patients with negative photopic electroretinograms were examined; three of them suffered from progressive cone dystrophy, in which negative electroretinograms are unusual. Another patient without symptoms was the brother of a patient with cone dystrophy. These pati...

Congenital nystagmus is a condition where the eyes of patients oscillate, mostly horizontally, with frequency between 2 and 10 Hz. Historically, believed to be caused by maladaptation oculomotor system thus considered disease brain stem. However, we have recently shown that congenital associated stationary night blindness synchronously oscillating retinal ganglion cells. In this perspective art...