Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene.

doi:10.1016/j.ajo.2004.06.031

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Article

Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene.

American journal of ophthalmology - 1 Nov 2004

Hayashi Takaaki, Omoto Satoshi, Takeuchi Tomokazu, Kozaki Kenichi, Ueoka Yasuo, Kitahara Kenji

Abstract excerpt

PURPOSE: To describe the clinical phenotypes of four unrelated Japanese male patients with juvenile retinoschisis and to investigate occurrences of mutations in the RS1 gene. DESIGN: Observational case series and experimental study. METHODS: Fundus examinations, fluorescein angiography, and single-flash electroretinography (ERG) were carried out. In one patient, optical coherence tomography (OCT) was performed....

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PMID: 15531314
DOI: 10.1016/j.ajo.2004.06.031

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