Abstract
In this study, we investigated the clinical and genetic characteristics of 19 Korean patients with congenital stationary night blindness (CSNB) at two tertiary hospitals. Clinical evaluations, including fundus photography, spectral-domain optical coherence tomography, and electroretinography, were performed. Genetic analyses were conducted using targeted panel sequencing or whole exome sequencing. The median age was 5 (3–21) years at the initial examination, 2 (1–8) years at symptom onset, and 11 (5–28) years during the final visit. Genetic mutations were identified as CNGB1 and GNAT1 for the Riggs type (n = 2), TRPM1 and NYX for the complete type (n = 3), and CACNA1F (n = 14) for the incomplete type. Ten novel variants were identified, and best-corrected visual acuity (BCVA) and spherical equivalents (SE) were related to each type of CSNB. The Riggs and TRPM1 complete types presented mild myopia and good BCVA without strabismus and nystagmus, whereas the NYX complete and incomplete types showed mixed SE and poor BCVA with strabismus and nystagmus. This is the first case series of Korean patients with CSNB, and further studies with a larger number of subjects should be conducted to correlate the clinical and genetic aspects of CSNB.
Highlights
Congenital stationary night blindness (CSNB) is a group of non-progressive inherited retinal diseases (IRDs) with dysfunction of rod photoreceptors or signal transduction between photoreceptor cells and bipolar cells, accompanied by various clinical features and diverse genetic mutations [1]
The age at the first examination, age at symptom onset, age during the last visit, sex, spherical equivalents (SE), initial and final best-corrected visual acuity (BCVA), genetic profiles, and confirmed diagnosis were presented in all 19 cases
The clinical characteristics according to CSNB type were similar to those reported in the literature; the Riggs type presented better BCVA with mild myopia compared to the Schubert–Bornschein type [3,7,52]
Summary
Congenital stationary night blindness (CSNB) is a group of non-progressive inherited retinal diseases (IRDs) with dysfunction of rod photoreceptors or signal transduction between photoreceptor cells and bipolar cells, accompanied by various clinical features and diverse genetic mutations [1]. A recent study suggested that children with CSNB may present without complaints of night blindness [4]. These symptoms can overlap with other progressive IRDs, such as cone–rod dystrophies; accurate diagnosis is essential to predict future visual outcomes. CSNB is categorized into four types according to electroretinography (ERG) and fundus abnormalities: Riggs type, Schubert–Bornschein type, fundus albipunctatus, and Oguchi [3].
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