[Genotype-phenotype correlation in Chinese patients with retinitis pigmentosa due to rhodopsin mutation].

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.