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


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.

SUBMITTER: Xiao Y 

PROVIDER: S-EPMC4731765 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature

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

Xiao Yangyan Y   Liu Xiao X   Tang Luosheng L   Wang Xia X   Coursey Terry G TG   Guo Xiaojian X   Li Zhuo Z  

Scientific reports 20160129


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 mutat  ...[more]

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