Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease association at five new genetic loci upon meta-analysis of all patient collections. These loci are at EPDR1 rs3816415 (odds ratio (OR) = 1.24, P = 5.94 × 10(-15)), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10(-16)), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10(-14)), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10(-11)), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10(-12)). We also confirmed significant association at three previously described loci (P < 5 × 10(-8) for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG.

Keratoconjunctivitis sicca (KCS) is a dysfunction in tear production associated with clinical signs, which include conjunctival hyperemia, ocular discharge, discomfort, pain, and, eventually, corneal vascularization and pigmentation. Immunosuppressive drugs are routinely administrated for long periods to treat KCS but with side effects and limited results. Evaluation of the clinical benefits of intralacrimal transplantation of allogeneic mesenchymal stem cells (MSCs) in dogs with mild-moderate and severe KCS was done. A total of 24 eyes with KCS from 15 dogs of different breeds were enrolled in the present study. A single transplantation of MSCs (1 × 10 6 ) directly into lacrimal glands (dorsal and third eyelid) was performed. The Schirmer tear tests (STTs) and ocular surface improvements were used to assess short-and long-term effects of these cells. The STTs were carried out on day 0 (before MSCs transplantation) and on days 7, 14, 21, and 28, as well as 6 and 12 months after MSC transplantation. Our data demonstrate that allogeneic MSC transplantation in KCS dogs is safe since no adverse effects were observed immediately after transplantation and in short-and long-term follow-ups. A statistically significant increase in the STT and ocular surface improvements was found in all eyes studied. In all the eyes with mild-moderate KCS, STT values reverted to those of healthy eyes, while in eyes with severe KCS, although complete reversion was not found, there was improvement in tear production and in other clinical signs. Our study shows that a single dose of a low number of MSCs can be used to treat KCS in dogs. In contrast to immunosuppressive drug use, MSC transplantation has an effect over a long period (up to 12 months), even after a single administration, and does not require daily drug administration.

The reproducibilities of BMO-MRW, BMO area measurements and FoBMO angle were excellent in both healthy subjects and patients with glaucoma. Bruch's membrane opening minimum rim width (BMO-MRW) reproducibility is comparable to that of RNFLT measurements.

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Objetivo: Verificar características sociais e o impacto do custo do tratamento antiglaucomatoso na renda familiar entre pacientes do Serviço de Oftalmologia de hospital universitário. Métodos: Realizou-se estudo transversal entre 146 pacientes do Setor de Glaucoma do Hospital das Clínicas da Universidade Estadual de Campinas (UNICAMP), aplicando-se um questionário por entrevista. Foram investigadas as variáveis: escolaridade, exercí-cio de atividade profissional, renda própria e familiar, quantidade e tipo de medicações e tempo de tratamento antiglaucomatoso. A partir do custo mensal de medicações antiglaucomatosas disponíveis no Brasil e dos dados obtidos na entrevista, calculou-se o custo médio mensal do tratamento clínico e a porcentagem da renda familiar destinada à aquisição desses medicamentos. Além disto, investigaram-se fatores associados à dificuldade de aquisição da medicação. Resultados: O custo mensal médio do tratamento antiglaucomatoso foi de 36,09 ± 31,99 reais, o que correspondeu a 15,5% da renda familiar média. Aproximadamente 24,0% dos pacientes tiveram 25% ou mais de sua renda comprometida com o tratamento e 45,2% relataram dificuldade de adquirir a medicação em algum momento do tratamento. Os principais fatores associados à dificuldade de compra da medicação foram a reduzida renda familiar (p=0,0001) e a expressiva parcela da renda familiar destinada ao tratamento (p=0,0002). Conclusões: O tratamento do glaucoma apresentou custo elevado em relação à renda familiar da amostra. Evidenciou-se tratar de pacientes de baixa renda, destinada em boa parte ao tratamento do glaucoma. Admite-se que possam apresentar maior risco de baixa adesão ao tratamento antiglaucomatoso por dificuldades para adquirirem a medicação. Clinical glaucoma treatment at a university hospital: monthly cost and financial impact

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Objectives: To describe a Brazilian family with oculodentodigital dysplasia (ODDD) and to screen for mutations in the gap junction protein alpha 1 (GJA1) gene in this family.Methods: Twelve members of a 3-generation family with ODDD underwent screening for mutations of the GJA1 gene and a comprehensive ophthalmic examination. We defined ODDD on the basis of clinical characteristics described in this syndrome (microdontia, caries, enamel hypoplasia, thin nose,andsyndactyly)andeyeabnormalitiessuchasmicrophthalmos, iris atrophy, and glaucoma. Direct sequencing of the GJA1 gene was performed using DNA collected from peripheral blood. A control group of 60 healthy individuals underwent evaluation by means of enzyme digestion.Results: Among the 8 members of this family who were characterized as having ODDD, 2 showed chronic angle-closure glaucoma, and 1 had open-angle glaucoma. A new mutation in the GJA1 gene was identified, consisting of a change from proline to histidine at codon 59. This mutation segregated through members with the ODDD phenotype. Analysis of the control group by means of restriction fragment length polymorphism (MvaI enzyme) did not disclose this mutation. Conclusion:Our results demonstrate a new mutation (P59H) in the GJ1A gene, identified in a family with ODDD syndrome. Clinical Relevance: The presence of different forms of glaucoma in families with ODDD may indicate a new mutation in the GJA1 gene.

Two new structural alterations in the FOXC1 gene and a polymorphism in the GJA1 gene were first described in Brazilian patients with AR and developmental glaucoma. A polymorphism in the GJA1 gene (Ala253Val), for the first time identified in association with AR, raises the possibility of its participation as a modifier gene.