X-linked juvenile retinoschisis: phenotypic and genetic characterization

X-linked juvenile retinoschisis: phenotypic and genetic characterization

Juvenile X-linked retinoschisis (XLRS, MIM#312700) belongs to a group of the vitreoretinal dystrophies. We aimed to describe the phenotype-genotype correlation of three XLRS cases in juveniles with different novel mutations from the Lithuanian population. The patients demonstrated macular retinoschi...

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Bibliographic Details
Main Authors: Rasa Strupaitė, Laima Ambrozaitytė, Loreta Cimbalistienė, Rimvydas Ašoklis, Algirdas Utkus
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2018-11-01
Series:International Journal of Ophthalmology
Subjects:
X-linked retinoschisis
RS1 mutation
optical coherence tomography
electroretinogram
Online Access:http://www.ijo.cn/en_publish/2018/11/20181122.pdf

Internet

http://www.ijo.cn/en_publish/2018/11/20181122.pdf

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