Optical coherence tomography findings of the peripheral retina in patients with congenital X-linked retinoschisis

Ayaka Nakajima; Kazuki Kuniyoshi; Chiharu Iwahashi; Fukutaro Mano; Takaaki Hayashi; Hiroyuki Kondo; Kei Mizobuchi; Itsuka Matsushita; Akiko Suga; Kazutoshi Yoshitake; Tadashi Nakano; Takeshi Iwata; Chota Matsumoto; Shunji Kusaka

doi:10.3389/fmed.2023.1280564

Optical coherence tomography findings of the peripheral retina in patients with congenital X-linked retinoschisis

Front Med (Lausanne). 2023 Nov 16:10:1280564. doi: 10.3389/fmed.2023.1280564. eCollection 2023.

Authors

Affiliations

¹ Department of Ophthalmology, Kindai University Faculty of Medicine, Osaka-sayama, Japan.
² Department of Ophthalmology, Osaka Prefecture Saiseikai Tondabayashi Hospital, Tondabayashi, Japan.
³ Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
⁴ Department of Ophthalmology, University of Occupational and Environmental Health, Kitakyushu, Japan.
⁵ Molecular and Cellular Biology Division, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
⁶ Graduate School of Agricultural and Life Sciences, Faculty of Agriculture, The University of Tokyo, Tokyo, Japan.

Abstract

Introduction: Congenital X-linked retinoschisis (XLRS) presents as macular retinoschisis/degeneration in almost all patients and as peripheral retinoschisis in half the patients. Although the optical coherence tomography (OCT) findings of macular retinoschisis have been well investigated, those of peripheral retinoschisis have rarely been reported. This study aimed to report the ultra-widefield OCT findings of the peripheral retina in patients with XLRS.

Methods: Medical records of 10 Japanese patients (19 eyes) with clinically and/or genetically diagnosed XLRS were retrospectively reviewed. Funduscopic, electroretinographic, and OCT findings were reviewed and evaluated. Some were also genetically evaluated for the RS1 gene.

Results: OCT of the macula revealed schises and/or cystoid changes in the inner nuclear layer (INL) and outer nuclear layer. In contrast, OCT of the peripheral retina revealed schises and/or cystoid changes in the INL in eight eyes (44%), and/or splitting in the ganglion cell layer (GCL) in 10 (56%) of the 18 eyes with clear OCT images. No schisis or cystoid changes were found in the peripheral OCT images of eight eyes (44%). A 16-year-old boy presented with retinal splitting of the GCL and INL of the inferior retina, although he had no ophthalmoscopic peripheral retinoschisis. Genetic examinations were performed on three patients, all of whom had reported missense mutations in the RS1 gene.

Conclusion: In XLRS, peripheral bullous retinoschisis results from GCL splitting in the retina. One of the 10 patients with XLRS showed intraretinal retinoschisis in the GCL in the inferior periphery, which was unremarkable on ophthalmoscopy (occult retinoschisis). Although both peripheral bullous retinoschisis and occult retinoschisis showed splitting/cystic changes in the GCL, further studies are needed to determine whether occult retinoschisis progresses to bullous retinoschisis.

Keywords: OCT; congenital retinoschisis; ganglion cell layer; inner nuclear layer; inner plexiform layer; outer nuclear layer; retinal nerve fiber layer; tapetal reflex.

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. Part of this research was supported by Grant 22K09825 from Grants-in-Aid for Scientific Research, Japan Society for the Promotion of Science, to KK, Japan Grants 19ek0109282h0003, 18ek0109282h0002, 17ek0109282s0001, 16ek0109072h0003, and 15ek0109072h0003 from Agency for Medical Research and Development (AMED), Grants H26-Itaku(Nann)-Ippan-087, H23-Jitsuyouka(Nannbyo)-Ippan-006 R22-046 from the Japanese Ministry of Health, Labour and Welfare to TI, Grant 23K09053 from Grants-in-Aid for Scientific Research, Japan Society for the Promotion of Science, to HK.