@article {Lei1524, author = {Lei Lei and Shushan Li and Xiangyun Liu and Chun Zhang}, title = {The clinical feature of myocilin Y437H mutation in a Chinese family with primary open-angle glaucoma}, volume = {103}, number = {10}, pages = {1524--1529}, year = {2019}, doi = {10.1136/bjophthalmol-2018-313069}, publisher = {BMJ Publishing Group Ltd}, abstract = {Purpose To characterise the genotype(s), phenotype(s) and age-related penetrance of glaucoma in a Chinese family with primary open-angle glaucoma (POAG).Methods Recruited from a Chinese family spanning four generations, 7 individuals with POAG, 1 with ocular hypertension (OHT) and 14 unaffected individuals were included in this study. Genotypic investigation included sequencing of mutation sites using a glaucoma panel in combination with high-throughput sequencing and validated using Sanger sequencing. Phenotypic characterisation included investigation into patient medical history and physical examination.Results Eight (36.4\%) family members harboured heterozygous Y437H mutation, of whom seven (87.5\%) were glaucomatous and one (12.5\%) had OHT. The mean age of POAG diagnosis was 30.85{\textpm}7.13 years. The mean highest recorded intraocular pressure (IOP) was 46.57{\textpm}6.53 mm Hg. They all had complained of symptoms associated with vision and pain. Four (57.1\%) patients presented blindness. Five eyes (62.5\%) presented with severe and three eyes with moderate visual field defects. Most of them underwent surgery on average 1.29{\textpm}2.36 years after diagnosis, and the mean IOP at study was 17.95{\textpm}7.23 mm Hg, with an average of 0.92{\textpm}0.86 eye-drops. The patient with OHT was treated with latanoprost only and her IOP was well controlled. Age-related glaucoma penetrance was 0\% in individuals under the age of 20 years, 50\% at ages 20{\textendash}35 years, 75\% at ages 31{\textendash}35 years and 87.5\% over 45 years.Conclusion A novel MYOC mutation (c.1309T\>C, p.Y437H) in a Chinese family with POAG was identified which was associated with a phenotype characterised by severe visual impairment, frequent surgical intervention requirement and relatively high penetrance.}, issn = {0007-1161}, URL = {https://bjo.bmj.com/content/103/10/1524}, eprint = {https://bjo.bmj.com/content/103/10/1524.full.pdf}, journal = {British Journal of Ophthalmology} }