The effect of pseudoexfoliation syndrome on choroidal thickness in open-angle glaucoma

ABSTRACT Purpose: To investigate the effect of pseudoex foliation syndrome on choroidal thickness as compared with healthy individuals and subjects with primary open-angle glaucoma. Methods: This prospective, randomized study included 30 primary open angle glaucoma patients and 30 pseudoexfoliation glaucoma patients with similar demographic characteristics and 30 eyes of 30 healthy individuals comprised the control group. Regular optic nerve and macular images were obtained using a Cirrus HD spectral domain optical coherence tomography instrument, along with macular choroidal thickness measurements with enhanced depth imaging mode. Results: Age, sex, and axial length values were similar among the three groups (p>0.05). The primary open angle glaucoma and pseudoexfoliation glaucoma groups had comparable levels of glaucomatous damage. The mean subfoveal choroidal thickness values in the primary open angle glaucoma, pseudoexfoliation glaucoma, and control groups were 271.80 ± 19.96 &#956;m, 241.43 ± 32.47 &#956;m, and 268.03 ± 24.50 &#956;m, respectively. The pseudoexfoliation glaucoma group had the lowest choroidal thickness values of the three groups (p values: pseudoexfoliation-control: 0.001; pseudoexfoliation-primary open angle glaucoma: <0.001, primary open angle glaucoma-control: 0.516, independent samples t-test). Conclusion: The macular choroid was thinner in patients with pseudoexfoliation glaucoma, as compared with both healthy individuals and open-angle glaucoma patients with similar degrees of glaucomatous damage

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

3MC1 syndrome is a rare autosomal recessive disorder characterized by intellectual disability, short stature and distinct craniofacial, umbilical, and sacral anomalies. Five mutations in MASP1, encoding lectin complement pathway enzymes MASP-1 and MASP-3, have thus far been reported to cause 3MC1 syndrome. Only one previously reported mutation affects both MASP-1 and MASP-3, while the other mutations affect only MASP-3. We evaluated six unrelated individuals with 3MC1 syndrome and performed Sanger sequencing for all coding exons of MASP1. We also measured complement lectin and alternative pathway activities in an affected individual's serum. We found two novel splice site mutations, c.1012-2A > G in one and c.891 + 1G > T in two probands, and three novel missense mutations, c.1451G > A (p.G484E), c.1657G > A (p.D553N), and c.1987G > T (p.D663Y). Missense mutations affect only MASP-3, while splice site mutations affect both MASP-1 and MASP-3. In a proband who is homozygous for c.891 + 1G > T, we detected a total lack of lectin complement pathway activity and a 2.5-fold lower alternative pathway activity. The phenotype observed in patients whose both MASP-1 and MASP-3 are affected and in those whose only MASP-3 is affected does not appear to be different. We observed structural brain abnormalities, neonatal tooth, a vascular anomaly and a solid lesion in liver as novel phenotypic features of 3MC1 syndrome. Novel mutations and additional phenotypic features expand the genotypic and phenotypic spectrum of 3MC1 syndrome. Although patients with MASP-1 dysfunction in addition to disrupted MASP-3 have an altered complement system, their disease phenotype is not different from those having only MASP-3 dysfunction