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Article

Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy.

The British journal of ophthalmology - 1 Nov 2015

Katagiri Satoshi, Hayashi Takaaki, Ohkuma Yasuhiro, Sekiryu Tetsuju, Takeuchi Tomokazu, Gekka Tamaki, Kondo Mineo, Iwata Takeshi, Tsuneoka Hiroshi

Abstract excerpt

PURPOSE: To describe the clinical and genetic features of Japanese patients with Best's vitelliform macular dystrophy (BVMD). PATIENTS AND METHODS: This study examined 22 patients, including 16 probands from 16 families with BVMD. Comprehensive ophthalmic examinations were performed, including dilated funduscopy, full-field electroretinography (ERG) and electro-oculography (EOG). BEST1 mutation analysis was...

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Identifiers

PMID: 26201355
DOI: 10.1136/bjophthalmol-2015-306830

Genes

BEST1
ERG

Variants

Provenance

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