Phenotypic characterization of X‑linked retinoschisis: Clinical, electroretinography, and optical coherence tomography variables.
Loading...
Date
2016-07
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
Aims: To study the phenotypic characteristics of X‑linked retinoschisis (XLRS) and report the
clinical, electroretinogram (ERG), and optical coherence tomography (OCT) variables in Indian eyes.
Design: A retrospective study. Materials and Methods: Medical records of 21 patients with retinoschisis
who were genetically confirmed to have RS1 mutation were reviewed. The phenotype characterization
included the age of onset, best‑corrected visual acuity, refractive error, fundus findings, OCT, and ERG.
Statistical Analysis Used: Data from both the eyes were used for analysis. A P < 0.05 was set as statistical
significance. Data were not normally distributed (P < 0.05, Shapiro wilk); hence, nonparametric tests were
used for statistical analysis. Results: All were males whose mean age of presentation was 9 years. Visual
acuity was moderately impaired (median 0.6 logMAR, interquartile range: 0.47, 1) in these eyes with a
hyperopic refractive error of median +1.75 Ds (interquartile range: +0.50 Ds, +4.25 Ds). About 54.7% of the
eyes had both foveal and peripheral schisis, isolated foveal schisis was seen in 28.5% of the eyes, and schisis
with retinal detachment was seen in 16.6% of the eyes. The inner nuclear layer was found to be commonly
involved in the schisis, followed by outer nuclear and plexiform layers as evident on OCT. On ERG, a‑ and
b‑wave amplitudes were significantly reduced in eyes with foveal and peripheral schisis when compared
to the eyes with only foveal schisis (P < 0.05). Conclusions: XLRS has phenotypic heterogeneity as evident
on OCT, ERG, and clinical findings.
Description
Keywords
Electroretinogram, foveal schisis, optical coherence tomography, peripheral schisis, retinoschisis
Citation
Neriyanuri Srividya, Dhandayuthapani Sudha, Arunachalam Jayamuruga Pandian, Raman Rajiv. Phenotypic characterization of X‑linked retinoschisis: Clinical, electroretinography, and optical coherence tomography variables. Indian Journal of Ophthalmology. 2016 July; 64(7): 513-517.