Nystagmus characteristics in congenital stationary night blindness (CSNB)

Abstract

Eye-movement recordings of CSNB patients disclosed specific nystagmus characteristics, such as an oblique direction, superimposed waveforms and dysconjugate eye movements. These features may help to distinct nystagmus in CSNB from other forms of early infancy nystagmus, such as congenital idiopathic nystagmus, latent nystagmus and spasmus nutans. We found nystagmus in CSNB to be similar to the nystagmus reported in blue-cone monochromatism and rod monochromatism, and in patients with a severe sensory defect. The nystagmus characteristics described should prompt electroretinographic investigation in cases of uncertain diagnosis.

Negative electroretinograms in the pediatric and adult population

“…The most common presentation in children was nystagmus (48%), whereas adults most often complained of decreased vision (58%). Given that the majority of children in this study had CSNB, it was not surprising that nystagmus, a well-known finding in CSNB [30] was the most common presenting sign. Few patients in the study group had vision worse than 20/200 (11%).…”

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

“…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). Pieh and co-workers described the nystagmus as being dysconjugate and pendular with a lower amplitude and higher frequency than in idiopathic nystagmus; there is no distinction between the two Schubert-Bornschein types of CSNB and no clear distinction between other causes of nystagmus highlighting the importance of electrophysiology for diagnosis (Table 2).…”

“…Vitamin A deficiency Paraneoplastic syndrome: melanoma-associated retinopathy characterized by an ON-bipolar defect with anti-TRPM1 antibodies found in the sera of some patients (Dhingra et al, 2011;Kondo et al, 2011;Morita et al, 2014;Xiong et al, 2013) -Of infantile nystagmus (Gottlob and Proudlock, 2014;Pieh et al, 2008) CSNB genotypeephenotype correlation, since so far genes involved in icCSNB affect proteins at the presynaptic level, impacting both ONand OFF bipolar signalling, while cCSNB affects post synaptic ONbipolar function. Fundus examination is usually normal apart from myopic changes.…”

Nystagmus im Kindesalter

“…Le diglich etwa 25% weisen einen idiopa thischen Nystagmus auf [4]. [17]. Zudem konnte nachgewiesen wer den, dass der sensorische Nystagmus be züglich der Oszillationseigenschaften die selben Merkmale aufweist wie der idiopa thische Nystagmus [18].…”