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J Formos Med Assoc. 2014 Feb 13. pii: S0929-6646(14)00006-0. doi: 10.1016/j.jfma.2014.01.001. [Epub ahead of print]

A novel gene mutation in a family with X-linked retinoschisis.

Author information

  • 1Department of Ophthalmology, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Ophthalmology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan; Graduate Institute of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
  • 2Department of Molecular Biology and Human Genetics, Tzu Chi University, Hualien, Taiwan; Department of Ophthalmology, Buddhist Tzu Chi General Hospital, Hualien, Taiwan.
  • 3Stem Cells Center, Buddhist Tzu Chi General Hospital, Hualien, Taiwan.
  • 4Department of Ophthalmology, Changhua Christian Hospital, Changhua, Taiwan.
  • 5Department of Ophthalmology, Buddhist Tzu Chi General Hospital, Hualien, Taiwan.
  • 6Department of Ophthalmology, Buddhist Tzu Chi General Hospital, Hualien, Taiwan; Department of Ophthalmology and Visual Science, Tzu Chi University, Hualien, Taiwan.
  • 7Department of Ophthalmology, Kaohsiung Medical University, Kaohsiung, Taiwan.
  • 8Department of Ophthalmology, Buddhist Tzu Chi General Hospital, Hualien, Taiwan; Department of Ophthalmology and Visual Science, Tzu Chi University, Hualien, Taiwan. Electronic address: rktsai@tzuchi.com.tw.

Abstract

BACKGROUND/PURPOSE:

To describe the clinical characteristics of a Taiwanese family with X-linked retinoschisis (XLRS) and to investigate the molecular genetics of a novel mutation in the retinoschisin 1 (RS1) gene.

METHODS:

A total of 15 participants in this XLRS family were analyzed. Complete ophthalmic examinations and fundus photography were performed on 15 family members. These tests identified five affected males and two female carriers. Blood samples were collected, and genomic DNA was extracted. Best-corrected visual acuity, optical coherence tomography (OCT), electroretinogram (ERG), and direct DNA sequence analysis of the RS1 gene were performed on 15 family members.

RESULTS:

Five affected males, with visual acuity ranging from 0.2 to 0.7, had macular schisis and abnormal retinal pigment epithelium pigmentation. The mixed scotopic ERG "b" wave was more reduced than the "a" wave. OCT revealed typical microcystic schisis cavities within the macula area. Direct DNA sequence analysis revealed a single base pair deletion, 97delT, in all the affected individuals. This deletion resulted in a frameshift mutation of the RS1 gene, causing protein truncation. The affected males in this family showed moderately decreased visual acuity and dysfunction in both cone cells and phototransduction.

CONCLUSION:

We identified a novel RS1 (97delT) mutation in a Taiwanese family with XLRS. This finding expands the RS1 mutation spectrum and may help to further understand the molecular pathogenesis of XLRS.

Copyright © 2014. Published by Elsevier B.V.

KEYWORDS:

X-linked retinoschisis; electroretinogram; optic coherence tomography; retinoschisin 1

PMID:
24529551
[PubMed - as supplied by publisher]
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