Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.
- Kentaro Kurata,
- Katsuhiro Hosono,
- Akiko Hikoya,
- Akihiko Kato,
- Hirotomo Saitsu,
- Shinsei Minoshima,
- Tsutomu Ogata,
- Yoshihiro Hotta
Jpn J Ophthalmol 2018 Apr 17. Epub 2018 Apr 17.
Department of Ophthalmology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu-shi, Higashi-ku, Shizuoka, 431-3192, Japan.
Purpose: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by retinal dystrophy, renal dysfunction, central obesity, mental impairment, polydactyly, and hypogonadism. Only limited information on BBS is available from Japanese patients. In addition, there are currently no reports of Japanese patients with BBS caused by BBS10 mutations. Read More