Identification Of RHO Mutation In A Family With Retinitis Pigmentosa And Concomitant Angleclosure Glaucoma

Objective:1.To study the genetic characteristics and clinical phenotype of a family with retinitis pigmentosa(RP)and Concomitant angle-closure glaucoma(ACG).The DNA of family members was extracted,and the clinical data and DNA specimen library were established.2.To screen the pathogenic genes,and sequence the genomic DNA of family members,and locate the pathogenic mutation.Methods:1.Collection of clinical data of RP family:Six members in the family(5 patients with retinitis pigmentosa and 1 normal subject)signed an informed consent letter,inquired about the medical history.Pedigree figure was drawn.Detailed ophthalmologic examinations were performed in all subjects,including BCVA,IOP,ultrasound biomicroscopy of the anterior ocular segment,applanation tonometry,fundus examination,spectral-domain optical coherence tomography(SD-OCT),and electroretinogram(ERG).2.Drawing out the peripheral venous blood of family members and extracting genomic DNA.The suspected mutations were confirmed by target region capture and high throughput sequencing.3.Using Sanger sequencing to identify the suspected mutation sites of the members,including the proband.Results:1.The family was identified as an autosomal dominant genetic RP family according to the genetic characteristics,and the purity of genomic DNA of all subjects was up to standard.2.Five patients of this family had night blindness,decreased visual acuity and visual field defect.Two cases had angle closure glaucoma,and another two cases had narrow angle.Mutation c.541G>Ap.Glu181Lys in RHO was identified in these patients.3.Mutation c.541G>A p.Glu181Lys in RHO was identified in these patients and confirmed by Sanger sequencing.The validation in normal unaffected individuals and the family members showed the co-segregation of genotype and phenotype for the mutation.Conclusion:1.This family is an autosomal dominant RP family associated with angle closure glaucoma.The clinical phenotype was consistent with the typical RP characteristics.2.It is preliminarily believed that these patients was related to the mutation c.541G>Ap.Glu181Lys in RHO gene.3.Glaucoma in retinitis pigmentosa patients may go unnoticed.In this study,we have identified the diagnosis and suspected mutations by analyzing phenotypic characteristics and using target region capture and high throughput sequencing technology.