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- W3032024215 abstract "Juvenile retinoschisis (RS or XLRS,MIM#312700)is a rare X-linked inherited disorder,mainly affects bilateral retina,and is characterized by cartwheel-like changes of the macular region of the retina and schisis or splitting within the inner retinal layers,leading to visual deterioration.The electroretinogram is beneficial in the diagnosis of juvenile retinoschisis.The a-wave can be of normal or nearly normal amplitude in this disorder,whereas the amplitude of the b-wave is appreciably reduced,giving a decrease in the proportion of b/a.The responsible gene,XLRSl,maps to Xp22 and was identified by positional cloning.This paper makes a brief review about the latest XLRS research of pathogenesis,animal experiments,clinical therapy,and 25 references are cited.Key words: X-linked juvenile retinoschisis; Therapeutics; Model" @default.
- W3032024215 created "2020-06-05" @default.
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- W3032024215 date "2012-01-10" @default.
- W3032024215 modified "2023-09-28" @default.
- W3032024215 title "Recent progress in molecular genetics and therapy for X-linked juvenile retinoschisis" @default.
- W3032024215 doi "https://doi.org/10.3760/cma.j.issn.2095-0160.2012.01.024" @default.
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