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

• Kim YH
• Joo KS
• Seong MW
• Park SS
• Woo SJ

• KMID: 2469294
• DOI: http://doi.org/10.3341/kjo.2019.0083

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

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