Publication: Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis
1
Issued Date
2010-01-01
Resource Type
ISSN
00215155
Other identifier(s)
2-s2.0-77249096091
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
Japanese Journal of Ophthalmology. Vol.54, No.1 (2010), 89-93
Suggested Citation
La Ongsri Atchaneeyasakul, Adisak Trinavarat, Auengporn Pituksung, Worapoj Jinda, Wanna Thongnoppakhun, Chanin Limwongse Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis. Japanese Journal of Ophthalmology. Vol.54, No.1 (2010), 89-93. doi:10.1007/s10384-009-0748-6 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/29806
Research Projects
Organizational Units
Authors
Journal Issue
Thesis
Title
Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis
Other Contributor(s)
Abstract
Purpose: To identify genetic mutations of the XLRS1 gene and to describe the ocular phenotypes in two unrelated Thai patients with X-linked juvenile retinoschisis. Methods: Ophthalmic examination, including best-corrected visual acuity and fundus examination and photography, was performed in all participants. Electroretinography (ERG) and optical coherence tomography were performed when possible. All six exons of the XLRS1 gene were amplified, and mutation screening was determined by denaturing high-performance liquid chromatography and DNA sequencing. Results: Two point mutations were identified, a novel missense mutation c.378A > G (p.D126G) in exon 5 and a reported mutation c.637C > T (p.R213W) in exon 6. The first proband with the p.D126G mutation developed vitreous hemorrhage in both eyes at age 7 months. Foveal and peripheral schisis with several inner layer holes were detected in both eyes. The second proband with the p.R213W mutation developed slightly blurred vision at age 10 years. Fundus examination showed numerous fine white dots at the macula without foveal or peripheral schisis. Electronegative ERG results were documented in both probands. Conclusions: A novel p.D126G mutation appeared to be associated with a severe phenotype with vitreous hemorrhage developing in infancy. Both intra- and interfamilial clinical variabilities were recognized in our patients. © 2010 Japanese Ophthalmological Society (JOS).