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Sci Rep. 2016 Jan 29;6:20118. doi: 10.1038/srep20118.

X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family.

Author information

1
Department of Ophthalmology, Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
2
Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
3
Cullen eye institute, Baylor College of Medicine, Houston, Texas, USA.

Abstract

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. Our study is to describe the clinical characteristics of a four generations of this family (a total of 18 members)with X-linked retinoschisis (XLRS) and detected a novel mutations of c.3G > A (p.M1?) in the initiation codon of the RS1 gene. by direct sequencing.Identification of this mutation in this family provides evidence about potential genetic or environmental factors on its phenotypic variance, as patients presented with different phenotypes regardless of having the same mutation. Importantly, OCT has proven vital for XLRS diagnosis in children.

PMID:
26823236
PMCID:
PMC4731765
DOI:
10.1038/srep20118
[Indexed for MEDLINE]
Free PMC Article

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