Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma

PURPOSE Mouse serine protease 56 (Prss56) mutants show a phenotype of angle-closure glaucoma with a shortened ocular axial length. Mutations in the human PRSS56 gene are associated with posterior microphthalmia and nanopthalmos. In this study, variations in PRSS56 were evaluated in patients with either primary angle-closure glaucoma (PACG) or high hyperopia. METHODS A total of 561 participants were enrolled in this study, including 189 individuals with PACG, 110 individuals with simple high hyperopia (sphere refraction ≥+5.00 D), and 262 normal control subjects (-0.5 D<sphere refraction<+0.5 D). Polymerase chain reaction (PCR) and Sanger sequencing were performed to detect sequence variations in PRSS56. Novel variations were evaluated using online tools, such as PolyPhen-2 and SIFT. The frequencies of the variations were compared between patients and controls using Fisher's exact test (α=0.05). RESULTS Eleven variants including ten novel variants and one known variant, involving 15 alleles, were detected in 14 patients (five patients with PACG and nine patients with high hyperopia). Of the 11 variants, two novel variants were detected in four out of 262 normal controls, involving four alleles. The frequency of the variants in the patients with high hyperopia significantly differed from that in the controls (p=0.003). CONCLUSIONS The results indicate that variants in PRSS56 may be implicated in PACG and high hyperopia.