Abstract
Purpose :
To characterize 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, seven individuals with POAG, one 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 characterization included investigation into patient medical history and physical examination.
Results :
Eight (36.4%) family members harbored 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 IOP was 46.57 ± 6.53 mmHg. 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 averagely at 1.29 ± 2.36 years after diagnosis, and the mean IOP at study was 17.95 ± 7.23 mmHg with an average of 0.92 ± 0.86 eye drops. The OHT patient was treated with latanoprost only and her IOP was well controlled. Age-related glaucoma penetrance was 0% in individuals under age 20 years, 50% at ages 20- 35 years, 75% at ages 31-35 years, and 87.5% at over 45 years.
Conclusions :
A novel MYOC mutation (c.1309T>C, p.Y437H) in a Chinese family with POAG was identified, which was associated with a phenotype characterized by severe visual impairment, frequently surgical intervention requirement and relatively high penetrance.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.