September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Mutation analysis of RHO gene in 225 Chinese families with retinitis pigmentosa
Author Affiliations & Notes
  • Jianjun Chen
    Shanghai Tenth People's Hospital, SHANGHAI, China
    Tongji University, SHANGHAI, China
  • LIYUN HAN
    Shanghai Tenth People's Hospital, SHANGHAI, China
    Tongji University, SHANGHAI, China
  • ZHAOHUAN FAN
    Shanghai Tenth People's Hospital, SHANGHAI, China
    Tongji University, SHANGHAI, China
  • zehua wu
    Shanghai Tenth People's Hospital, SHANGHAI, China
    Tongji University, SHANGHAI, China
  • zilin zhong
    Shanghai Tenth People's Hospital, SHANGHAI, China
    Tongji University, SHANGHAI, China
  • Footnotes
    Commercial Relationships   Jianjun Chen, None; LIYUN HAN, None; ZHAOHUAN FAN, None; zehua wu, None; zilin zhong, None
  • Footnotes
    Support   the National Key Basic Research Program of China 2015CB964601, the National Natural Science Foundation of China 81371062
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 3140. doi:
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    • Get Citation

      Jianjun Chen, LIYUN HAN, ZHAOHUAN FAN, zehua wu, zilin zhong; Mutation analysis of RHO gene in 225 Chinese families with retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 2016;57(12):3140.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Retinitis pigmentosa, the most common hereditary retinal disease causing blindness worldwide, refers to a heterogeneous group of progressive retinal degenerations. Mutations in the rhodopsin gene (RHO) are suggested to be the most common cause of autosomal dominant retinitis pigmentosa. This study is aimed at identification of the mutations in RHO gene in Retinitis pigmentosa patients in a Chinese population.

Methods : A cohort of 225 Chinese families with Retinitis pigmentosa was collected from 15 cities of China. In this study, Sanger sequencing was used to analyze all five coding exons and adjacent intronic regions of RHO in 225 Chinese probands with different forms of retinitis pigmentosa.

Results : A cohort of 225 Chinese families with Retinitis pigmentosa was collected from 15 cities of China. In this study, Sanger sequencing was used to analyze all five coding exons and adjacent intronic regions of RHO in 225 Chinese probands with different forms of retinitis pigmentosa.

Conclusions : The results expand the mutation spectrum of RHO. They also suggest that RHO mutations may be not a common cause of retinitis pigmentosa in a Chinese population.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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