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Japanese Patients with Fundus Albipunctatus Caused by RDH5 Gene Mutations

  • Makoto Nakamura
  • Yoshihiro Hotta
  • Yozo Miyake

Abstract

Fundus albipunctatus is a type of congenital stationary night blindness with an autosomal recessive inheritance pattern. The fundus demonstrates a large number of discrete, small, round or elliptical, yellow-white lesions. Recent studies have demonstrated that mutations of the 11-cis retinol dehydrogenase (RDH5) gene causes this disease. We analyzed the RDH5 gene in Japanese families with fundus albipunctatus, and in all, either a homozygous or a compound heterozygous mutation in the RDH5 gene was identified. We conclude that most Japanese fundus albipunctatus patients are caused by the RDH5 gene mutation. The mutation of c.928 C deletion/GAAG insertion occurred at a relatively high frequency in Japanese patients, suggesting a founder effect. Most of the elderly fundus albipunctatus patients had cone dystrophy with a depression of visual functions. We suggest that the mutations of the RDH5 gene causes a cone dystrophy as well as night blindness in Japanese patients.

Keywords

Retinal Pigment Epithelium Compound Heterozygous Mutation Cone Dystrophy Congenital Stationary Night Blindness Retinol Dehydrogenase 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media New York 2001

Authors and Affiliations

  • Makoto Nakamura
  • Yoshihiro Hotta
  • Yozo Miyake
    • 1
  1. 1.Department of OphthalmologyNagoya University School of MedicineShowa-ku, NagoyaJapan

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