Identification of Interphotoreceptor Retinoid-binding Protein in the Schisis Cavity Fluid of a Patient with Congenital X-linked Retinoschisis

Overview

Journal BMC Ophthalmol

Publisher Biomed Central

Specialty Ophthalmology

Date 2022 Jan 7

PMID 34991515

Citations 1

Authors

Fukutaro Mano

Koji Sugioka

Kazuki Kuniyoshi

Hiroyuki Kondo

Shunji Kusaka

Affiliations

Soon will be listed here.

Abstract

Background: This case report describes the surgical outcome in a patient with congenital X-linked retinoschisis (CXLRS) and the results of proteomic analysis of surgically extracted samples from both vitreous and intraschisis cavities by mass spectrometry.

Case Presentation: A 3-month-old boy presented with extensive retinoschisis involving macula and retinal periphery in both eyes. Genetic analysis confirmed retinoschisin 1 mutation (c.554C > T), and an electroretinogram showed significant reduction of b-wave and decreased cone and rod responses, which led to a diagnosis of CXLRS. By performing pars plana vitrectomy, including inner wall retinectomy, clear visual axes with stable retinal conditions and functional vision in both eyes were obtained during the 4 years of follow-up. Proteomic analysis of surgically retrieved fluid from the intraschisis cavity revealed a higher expression of interphotoreceptor retinoid-binding protein (IRBP) than that from the vitreous humor. However, both samples showed equal levels of albumin, transferrin, and pigment epithelium-derived factor.

Conclusions: Cellular adhesive imperfection in CXLRS may cause IRBP diffusion from the interphotoreceptor matrix, resulting in the strong expression of IRBP in the intraschisis cavity. An impaired retinoid cycle caused by an absence of IRBP in the retina may potentially underlie the pathology of CXLRS.

Citing Articles

Retinal honeycomb appearance and its role in patients with X-linked retinoschisis.

Ma J, Liu J, Li S, Ma Y, Deng G, Li L BMC Ophthalmol. 2023; 23(1):85.

PMID: 36879218 PMC: 9987038. DOI: 10.1186/s12886-023-02835-2.

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