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Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy
  1. Satoshi Katagiri1,
  2. Takaaki Hayashi1,
  3. Yasuhiro Ohkuma1,
  4. Tetsuju Sekiryu2,
  5. Tomokazu Takeuchi1,
  6. Tamaki Gekka1,
  7. Mineo Kondo3,
  8. Takeshi Iwata4,
  9. Hiroshi Tsuneoka1
  1. 1Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan
  2. 2Department of Ophthalmology, Fukushima Medical University School of Medicine, Fukushima, Japan
  3. 3Department of Ophthalmology, Mie University School of Medicine, Mie, Japan
  4. 4Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan
  1. Correspondence to Dr Takaaki Hayashi, Department of Ophthalmology, The Jikei University School of Medicine, 3-25-8, Nishi-shimbashi, Minato-ku, Tokyo 105-8461, Japan; taka{at}


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 performed by Sanger sequencing.

Results All 16 probands exhibited characteristic BVMD fundus appearances, abnormal EOG, and normal ERG responses with the exception of one diabetic retinopathy proband. Genetic analysis identified 12 BEST1 variants in 13 probands (81%). Of these, 10 variants (p.T2A, p.R25W, p.F80L, p.V81M, p.A195V, p.R218H, p.G222E, p.V242M, p.D304del and p.E306D) have been previously reported in BVMD, while two variants (p.S7N and p.P346H) were novel, putative disease-causing variants. Single BEST1 variants were found in 12 probands. The one proband with compound heterozygous variants (p.S7N and p.R218H) exhibited typical BVMD phenotypes (pseudohypopyon stage and vitelliruptive stage in the right and left eyes, respectively).

Conclusions Twelve different variants, two of which (p.S7N and p.P346H) were novel, were identified in the 13 Japanese families with BVMD. Compound heterozygous variants were found in one proband exhibiting a typical BVMD phenotype. Our results suggest that BEST1 variants do play a large role in Japanese patients with BVMD.

  • Retina
  • Genetics
  • Macula
  • Dystrophy

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