Genotype and Phenotype of 101 Dutch Patients with Congenital Stationary Night Blindness

Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms

“…The phenotype of icCSNB is somewhat more heterogeneous than cCSNB particularly when associated with mutations in CACNA1F and patients may present with little or no night vision disturbances (Miyake, 2002). In a recent study, 54% of icCSNB patients reported night blindness that barely impacted on their daily life, compared to the night vision problems reported in 100% of cCSNB cases (Bijveld et al, 2013a(Bijveld et al, , 2013b. Light sensitivity is more common in icCSNB being reported in 53% of cases versus 21% in cCSNB (Bijveld et al, 2013a).…”

“…In a recent study, 54% of icCSNB patients reported night blindness that barely impacted on their daily life, compared to the night vision problems reported in 100% of cCSNB cases (Bijveld et al, 2013a(Bijveld et al, , 2013b. Light sensitivity is more common in icCSNB being reported in 53% of cases versus 21% in cCSNB (Bijveld et al, 2013a). This difference was initially outlined by Miyake advocating for two distinct disorders (Miyake, 2002) and subsequently changes in nomenclature were proposed including CSNB1 and "congenital rod synaptic dysfunction" for cCSNB; CSNB2 and congenital rod-cone synaptic dysfunction" for x-linked icCSNB and "congenital cone synaptic dysfunction" for autosomal recessive icCSNB (Khan, 2014;Littink et al, 2009;Riemslag, 2009).…”

“…Patients with cCSNB typically have a history of congenital night blindness, have decreased visual acuity with a median of 0.30 logMAR (about 20/40) (Bijveld et al, 2013a), moderate to high myopia with a median refractive error of À7.4 D (Bijveld et al, 2013a) and nystagmus that tends to lessen with time. There may be a relative null-point with careful head positioning, which can often optimise visual acuity, as in patients with other causes of nystagmus (Pieh et al, 2008).…”

Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer

“…Clinically autosomal recessive complete CSNB is typically associated with high myopia and nystagmus [5].…”

Structural Insights into Activation of the Retinal L-type Ca2+ Channel (Cav1.4) by Ca2+-binding Protein 4 (CaBP4)

“…Ca 2ϩ -dependent regulation of Cav1.4 mediated by CaBP4 is genetically linked to congenital stationary night blindness (1). Particular mutations in both the CACNA1F gene that encodes the ␣ 1 -subunit of an L-type Ca 2ϩ channel (Cav1.4␣) (7-10) and the CABP4 gene (11,12) were associated with this autosomal recessive retinopathy. These findings are further underscored by observations that mice lacking either CaBP4 or Cav1.4␣ display a CSNB2-like phenotype (1,13,14).…”