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Br J Ophthalmol 2001;85:1046-1048 doi:10.1136/bjo.85.9.1046
  • Scientific correspondence

Rhodopsin mutations in Chinese patients with retinitis pigmentosa

  1. Wai Man Chan,
  2. Kwun Yan Yeung,
  3. Chi Pui Pang,
  4. Larry Baum,
  5. Tung Ching Lau,
  6. Alvin Kwan Ho Kwok,
  7. Dennis Shun Chiu Lam
  1. Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China
  1. Dr C P Pang, Hong Kong Eye Hospital 3/F, 147K Argyle Street, Kowloon, Hong Kongcppang{at}cuhk.edu.hk
  • Accepted 12 March 2001

Abstract

AIM To determine the pattern of rhodopsin mutations in Chinese retinitis pigmentosa (RP) patients.

METHODS The rhodopsin gene was examined in 101 RP patients and 190 controls from Hong Kong.

RESULTS Three coding changes were identified: Pro347Leu, Ala299Ser, and 5211delC. Each protein sequence alteration was found in one patient. Ala299Ser also existed in two controls.

CONCLUSION The C-terminal nonsense mutation may cause mis-sorting of rhodopsin protein. The finding of controls with Ala299Ser suggests this is only the third missense alteration reported that does not cause RP. The expected frequency of rhodopsin mutations in RP is <7% (2/101=2.0%, 95% confidence interval: 0.2%–7.0%).

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