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

TitleX-Linked Retinoschisis: Phenotypic Variability in a Chinese Family.
Publication TypeJournal Article
Year of Publication2016
AuthorsXiao, Y, Liu, X, Tang, L, Wang, X, Coursey, TG, Guo, X, Li, Z
JournalSci Rep
Date Published2016 Jan 29
KeywordsAdult, Aged, 80 and over, Asian People, China, Codon, Initiator, Eye Proteins, Family, Female, Humans, Male, Middle Aged, Mutation, Pedigree, Retinoschisis

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.

Alternate JournalSci Rep
PubMed ID26823236
PubMed Central IDPMC4731765

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