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


CONCLUSIONS
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.
Zhang
Q
Q
Zhongshan Ophthalmic Center, Sun Yat-Sn University of Medical Sciences, Guangzhou 510060, China.
Zhang
F
F
Xiao
X
X
Li
S
S
Shen
H
H
D000328:Adult; D000483:Alleles; D044466:Asian People; D005260:Female; D005799:Genes, Dominant; D005838:Genotype; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*; D014792:Visual Acuity
D012243:Rhodopsin