Abstract
Purpose
X-linked juvenile retinoschisis (XLRS), a leading cause of juvenile macular degeneration, is characterized by a spoke-wheel pattern in the macular region of the retina and splitting of the neurosensory retina. This study aimed to identify the underlying genetic defect in a Chinese family with XLRS.
Methods
The proband underwent complete ophthalmic examinations, including fundus examination, fundus autofluorescence, and optical coherence tomography. DNA extracted from proband and his younger brother was screened for mutations in RS1 gene. The detected RS1 mutation was tested in all available family members and 200 healthy controls.
Results
Reduced visual acuity, spoke-wheel pattern at the fovea, and split retina were observed in the proband. A novel frameshift mutation c.206-207delTG in the RS1 gene, leading to a truncated protein (p.L69fs16X), was identified in the proband and his younger brother. This mutation was not found in any unaffected member or in the healthy controls. The mother of the proband was hemizygous for this mutant allele.
Conclusions
We identified a novel causative mutation of RS1 in a Chinese family with XLRS. This finding expands the mutation spectrum of RS1 and provides evidence for a phenotype–genotype study in XLRS.
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Change history
13 November 2014
This article has been corrected since Advance Online Publication and an erratum is also printed in this issue
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Acknowledgements
We thank the patients’ families and healthy controls for their participation in our study. We also thank Ranhui Duan for manuscript revising. This study was supported by the National Natural Science Foundation of China (81270706) and (81271944).
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Huang, Y., Mei, L., Gui, B. et al. A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family. Eye 28, 1364–1369 (2014). https://doi.org/10.1038/eye.2014.196
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DOI: https://doi.org/10.1038/eye.2014.196
