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- Title
Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis.
- Authors
Atchaneeyasakul, La-ongsri; Trinavarat, Adisak; Pituksung, Auengporn; Jinda, Worapoj; Thongnoppakhun, Wanna; Limwongse, Chanin
- Abstract
The article identifies the genetic mutations of the XLRS1 gene and describes the ocular phenotypes in two unrelated Thai patients with X-linked juvenile retinoschisis. Mutation screening identified two point mutations, with the first proband developing vitreous hemorrhage in both eyes and the second proband developing slightly blurred vision at age 10 years. The researchers detected foveal and peripheral schisis, and fundus examination revealed the presence of fine white dots at the macula. The probands showed eletronegative electroretinography (ERG).
- Subjects
GENETIC mutation; GENES; PHENOTYPES; RETINAL diseases; HEMORRHAGE; ELECTRORETINOGRAPHY
- Publication
Japanese Journal of Ophthalmology, 2010, Vol 54, Issue 1, p89
- ISSN
0021-5155
- Publication type
Article
- DOI
10.1007/s10384-009-0748-6