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Year : 2016  |  Volume : 64  |  Issue : 7  |  Page : 513-517

Phenotypic characterization of X-linked retinoschisis: Clinical, electroretinography, and optical coherence tomography variables

1 Department of Optometry, Elite School of Optometry, Chennai and Birla Institute of Technology and Science, Pilani, Rajasthan, India
2 Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, India
3 Department of Vitreo-retina, Shri Bhagwan Mahaveer Vitreoretinal Services, Sankara Nethralaya, Chennai, Tamil Nadu, India

Correspondence Address:
Rajiv Raman
Shri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, College Road, Chennai - 600 006, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0301-4738.190140

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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.

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