The Effect of Uneventful Phacoemulsification on Intraocular Pressure and Anterior Segment Parameters in Pseudoexfoliation Syndrome.

OBJECTIVES: The aim of this study was to evaluate the effects of cataract surgery on anterior segment parameters and intraocular pressure (IOP) in non-glaucomatous pseudoexfoliation syndrome (PXS) eyes. METHODS: The cohort consisted of 65 patients who were to undergo cataract surgery; the participants were divided into 2 groups: patients with PXS (n=35) and controls without PXS (n=30). A complete ophthalmic examination, measurement of IOP (using an applanation tonometer), and evaluation of anterior segment parameters using a Sirius Scheimpflug/Placido topography device (CSO Italy, Firenze, Italy) were performed on all patients both prior to and 1 month after surgery. RESULTS: No significant difference was observed between groups in terms of preoperative IOP, pupil diameter, central corneal thickness, anterior chamber depth (ACD), anterior chamber volume (ACV), iridocorneal angle (ICA), or corneal volume (CV) values. A reduction in the postoperative mean IOP value was noted in both groups, with a difference of slightly >2 mmHg in the PXS group (PXS: p=0.000, control: p=0.002). Postoperatively, a statistically significant increase was observed in both groups in the ACD, ICA, ACV, and CV measurements. When comparing the preoperative and postoperative differences of the groups, the only parameter noted to be statistically significantly different was postoperative widening of the ICA. A greater degree of widening was noted in the PXS group (13.83±6.06°) compared with the control group (10.47±6.69°) (p=0.039). CONCLUSION: IOP values decreased and ACD values increased significantly following phacoemulsification in the PXS and the normal eyes. These findings support results reported in the literature. However, the results related to ICA changes are a new, previously unreported contribution. To more fully comprehend the effects of cataract surgery on patients with PXS in terms of ICA changes, prospective studies with a larger cohort are needed.

The effect of pseudoexfoliation syndrome on choroidal thickness in open-angle glaucoma / O efeito do glaucoma pseudoesfoliativo sobre a espessura da coroide em comparação com o glaucoma de ângulo abertos

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 μm, 241.43 ± 32.47 μm, and 268.03 ± 24.50 μm, 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.

RESUMO Objetivo: Investigar o efeito do glaucoma pseudoexfoliativo sobre a espessura da coroide em comparação com indivíduos saudáveis e com glaucoma primário de ângulo aberto. Métodos: Este estudo prospectivo e randomizado incluiu 30 pacientes com glaucoma primário de ângulo aberto e 30 com glaucoma pseudoexfoliativo, com características demográficas semelhantes e 30 olhos de 30 indivíduos saudáveis compuseram o grupo controle. Imagens da área macular e do nervo óptico foram obtidas usando um tomógrafo por coerência óptica no domínio espectral do modelo Cirrus HD, juntamente com medições da espessura da coroide na área macular através do modo de imagem de profundidade realçada. Resultados: Os valores de idade, sexo e comprimento axial foram semelhantes nos três grupos (p>0,05). Os grupos de glaucoma primário de ângulo aberto e de glaucoma pseudoexfoliativo tinham níveis comparáveis de lesões glaucomatosas. Os valores médios da espessura subfoveal da coroide nos grupos do glaucoma primário de ângulo aberto, glaucoma pseudoexfoliativo e de controle foram 271,80 ± 19,96 μm, 241,43 ± 32,47 μm e 268,03 ± 24,50 μm, respectivamente. O grupo glaucoma pseudoexfoliativo apresentou os menores valores de espessura de coroide dos três grupos (valores de p: pseudoexfoliativo-controle: 0,001; pseudoexfoliativo-glaucoma primário de ângulo aberto: <0,001, controle de glaucoma primário de ângulo aberto: 0,516; teste de t de amostras independentes). Conclusão: A coroide na área macular era mais fina em pacientes com glaucoma pseudoexfoliativo, quando comparada com indivíduos saudáveis e pacientes com glaucoma de ângulo aberto com graus similares de lesão glaucomatosa.

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

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 µm, 241.43 ± 32.47 µm, and 268.03 ± 24.50 µm, 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.

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.