Study On A Pedigree With Retinitis Pigmentosa And Its Concomitant Ophthalmic Diseases

Purpose:We analyze the clinical phenotype of a family with retinitis pigmentosa associated with angle-closure glaucoma and detect the mutation of pathogenic gene leading to retinitis pigmentosa in the family.Some eye diseases,including glaucoma,were screened for pathogenic genes.Methods:the family members were examined in detail,and the genomic DNA was extracted from the peripheral blood and detected by whole-exome sequencing(WES).The results were analyzed by bioinformatics,and then the family members and control group members were verified by Sanger sequencing.Finally,the pathogenic mutation sites were identified,and the genotype-phenotypic relationship was analyzed.Results:the c.512 C > T(p.P171L)mutation of RHO gene was confirmed by WES and Sanger sequencing,which was not found in the control group.Among the family members,1 patient was associated with angle-closure glaucoma and 2 patients had angle stenosis.Conclusion:the known mutation c.512 C > T(p.P171L)of RHO gene is the etiology of this family.Glaucoma and related pathological changes in family members are considered to be the symptoms of RP caused by RHO gene mutation.