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[Genotype-phenotype correlation in Chinese patients with retinitis pigmentosa due to rhodopsin mutation]
1Zhongshan Ophthalmic Center, Sun Yat-Sn University of Medical Sciences, Guangzhou 510060, China.
Purpose:
To investigate the genotype-phenotype correlation in Chinese patients with retinitis pigmentosa caused by rhodopsin gene mutation.
Methods:
On the basis of the onset of symptoms, degree of morphological changes and progression of visual disability in three (3/83) patients with identified mutations, the correlation of the phenotype with the corresponding mutations was assessed.
Results:
There was a certain degree of allele-specificity. Severe form of retinitis pigmentosa was found in patients with mutation in the cytoplasmic domain and mild form of retinitis pigmentosa in patients with mutation in the intradiscal domain.
Conclusion:
Although there is a certain relation between the mutant rhodopsin and ocular manifestation, we need to accumulate more materials before relating a rhodopsin mutation to a specific phenotype.
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