Multimodal imaging in Schubert-Bornschein congenital stationary night blindness

Ophthalmic Genet. 2023 Aug;44(4):408-413. doi: 10.1080/13816810.2022.2135108. Epub 2022 Oct 13.

Abstract

Background: Schubert-Bornschein (SB) is the most common type of people with congenital stationary night blindness (CSNB). The aim of the study is to describe the optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) findings in patients with SB CSNB.

Methods: Prospective, observational case series including three patients with genetically confirmed CSNB along with matched controls, who underwent complete ophthalmic examination and multimodal imaging.

Results: On SD-OCT, a significant focal outer plexiform layer (OPL) thickening and a corresponding focal outer nuclear layer (ONL) thinning were identified in the macular area (p < 0.001). OCTA analysis overall showed decreased density of macular deep capillary plexus (mDCP) and macular choriocapillaris (mCC) (p = 0.008 and p = 0.033, respectively). DCP vessel density in the area corresponding to OPL thickening was significantly increased compared to the remaining retina (p < 0.001).

Conclusion: SB CSNB is characterized by retinal vascular impairment, as detected on OCTA.

Keywords: Congenital stationary night blindness; Schubert-Bornschein; optical coherence tomography angiography.

Publication types

  • Observational Study

MeSH terms

  • Fluorescein Angiography
  • Humans
  • Multimodal Imaging
  • Night Blindness* / diagnosis
  • Night Blindness* / genetics
  • Prospective Studies
  • Retina / diagnostic imaging
  • Retinal Vessels
  • Tomography, Optical Coherence

Supplementary concepts

  • Night blindness, congenital stationary