Genotype-phenotype analysis in a family with retinitis pigmentosa and concomitant angleclosure glaucoma

Objective To analyze the clinical phenotype of a family with autosomal dominant retinitis pigmentosa and concomitant angle-closure glaucoma, and screen for the suspicious causative genes. Methods Six members in a family (5 patients with retinitis pigmentosa and 1 normal subject) admitted to our hospital were recruited in this study in September 2016. Detailed ophthalmologic examinations were performed in all subjects, including uncorrected visual acuity, best corrected visual acuity, ultrasound biomicroscopy of the anterior ocular segment, applanation tonometry, fundus examination, spectral-domain optical coherence tomography (SD-OCT), and electroretinogram (ERG). Clinical data about five cases were analyzed with drawing a pedigree figure. The suspected mutations were confirmed by target region capture, high throughput sequencing and Sanger sequencing. Results 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> A p.Glu181Lys in RHO was identified in these patients. Conclusion Glaucomain 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.