Korean J Ophthalmol.  2020 Feb;34(1):94-95. 10.3341/kjo.2019.0083.

Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient

Affiliations
  • 1Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea. sejoon1@snu.ac.kr
  • 2Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.

Abstract

No abstract available.


MeSH Terms

Bardet-Biedl Syndrome*
Humans
Retinitis Pigmentosa*
Retinitis*

Figure

  • Fig. 1 (A,B) Fundus photography and ultrawide-field fundus photography of the right eye showing waxy pallor of the disk, vascular attenuation, macular retinal pigment epithelium atrophy, and diffuse mid-peripheral depigmentation. (C) Spectral-domain optical coherence tomography of the right eye showing generalized thinning of the neural retina, especially photoreceptor layers. (D) Goldmann perimetry of the right eye showed a central island that only measured within center 5° of the visual field. (E) Fundus autofluorescence imaging of the right eye showed concentric regions of hyper- and hypo-autofluorescence in the macula, resulting in a complex bull's eye-like pattern. (F) Electroretinography showed no a- and b-wave amplitudes.


Reference

1. Forsythe E, Beales PL. Bardet-Biedl syndrome. Eur J Hum Genet. 2013; 21:8–13.
Article
2. Weihbrecht K, Goar WA, Pak T, et al. Keeping an eye on Bardet-Biedl syndrome: a comprehensive review of the role of Bardet-Biedl syndrome genes in the eye. Med Res Arch. 2017; 09. 18. DOI: 10.18103/mra.v5i9.1526.
3. Suspitsin EN, Imyanitov EN. Bardet-Biedl syndrome. Mol Syndromol. 2016; 7:62–71.
Article
4. Shin SJ, Kim M, Chae H, et al. Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome. Ann Lab Med. 2015; 35:181–184.
Article
5. Yoon SC, Lee HJ, Ko JM, et al. Two siblings with Bardet-Biedl syndrome caused by mutations in BBS10: the first case identified in Korea. J Genet Med. 2014; 11:31–35.
Full Text Links
  • KJO
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr