Mutations of rhodopsin gene in a family with autosomal dominant retinitis pigmentosa

Objective To study the relation between a family with autosomal dominant retinitis pigmentosa（adRP） and rhodopsin（RHO） by analyzing the clinical phenotype of adRP. Methods Genetic characteristics of the family with adRP occurring in 4 consecutive generations were observed according to the RP diagnostic criteria of retinitis pigmentosa（RP） and the clinical phenotype of the adRP family members.Peripheral blood samples（8-10ml） were taken from 13 family members of the family with adRP.Genomic DNA was isolated and the first 5 exons of RHO gene segments were amplified by PCR.The purified PCR products were directly sequenced,which was compared with the standard sequence of nucleic acid from National Center for Biotechnology Information（NCBI）. Results Night blindness occurred in all members of the family at the age of about 10 years.Visual field damage was observed in 1 member at the age of 22 years and in 2 members at the age of 40 years who developed acute angle-closure glaucoma and cataract at the age of about 50 years.No base change was found in RHO exons,non-downstream and upstream-coding sequence,and connection between intron and exon of RHO in 5 members. Conclusion Genetic and phenotypic heterogeneity is found in members of the family and RHO is not the pathogenic gene in the family.