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Abstract #80059 Published in IGR 20-2
The clinical feature of myocilin Y437H mutation in a Chinese family with primary open-angle glaucoma
Lei L; Li S; Liu X; Zhang CBritish Journal of Ophthalmology 2019; 103: 1524-1529
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 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.
Department of Ophthalmology, Beijing Key Laboratory of Restoration of Damaged Ocular Nerve, Peking University Third Hospital, Beijing, China.
Full articleClassification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
