Clinic Features And The Mutations Screening Of A Chinese Family With Open Angle Glaucoma

Objective To investigate the clinic features and scan the mutations of MYOC,OPTN and WDR36 genes in a Chinese family with autosomal dominant open angle glaucoma.Methods A POAG famil that total 35 members were recruited, 8 were affected,27?unaffeced. The POAG patients were undergone opthalmic examination,including visual acuity, intraocular tension, slit-lamp, gonioscope microgonioscope,direct funduscopy, some patients also were undergone humphrey threshold perimetry and optical coherence tomographic (OCT).Genomic DNA was extracted in the context of consent from the peripheral blood of patients and relatives.The peripheral blood of 100 out-patient random healthy also were collected and the DNA were extracted as normal controls.The primers of MYOC,OPTN and WDR36 were designed according to the reference. The coding sequence of MYOC,OPTN and WDR36 genes were amplified by polymerase chain reaction(PCR).?After?purifying,PCR products were sequenced by the ABI's 3170 automated sequencer. The sequencing was analyzed by DNAstar.Results The onset age of POAG patients were ranged from 20 to 27 years old,the POAG patients suffered aggravating optic atrophy and visual field defect,some of them with poorly controlled intraocular pressure had secondary operations.No mutation was observed in the family. Conclusion As observing the clinical characteristics of patients,the family was consistent with the diagnosis of juvenile open angle glaucoma. The mutations screening of disease-causative genes with patients, excluded from the MYOC, OPTN, WDR36 gene mutations,the mutations may be caused by other pathogenic genes.