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±7.13 years. The mean highest recorded intraocular pressure (IOP) was 46.57±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±2.36 years after diagnosis, and the mean IOP at study was 17.95±7.23 mm Hg, with an average of 0.92±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 20–35 years, 75% at ages 31–35 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.
- intraocular pressure
- field of vision
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Contributors Design of the study: CZ. Conduct of the study: LL, LS, LX. Statistical analysis: LL.
Funding Supported by the National Natural Science Foundation of China (no 81670851).
Competing interests None declared.
Patient consent for publication Obtained.
Ethics approval This study adhered to the tenets of the Declaration of Helsinki (2013). The protocol was approved by the Peking University Third Hospital Ethics Committee.
Provenance and peer review Not commissioned; externally peer reviewed.
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