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Resumo A síndrome de Marfan é uma doença de herança autossômica dominante e que afeta o tecido conjuntivo com manifestações fenotípicas que envolvem os sistemas esquelético, cardiovascular e ocular. As principais manifestações oculares são a subluxação do cristalino, a miopia e o descolamento da retina. O objetivo deste artigo foi relatar a conduta clínico-cirúrgica de um paciente portador da síndrome de Marfan com cristalino luxado para a cavidade vítrea e que evoluiu com severa reação facoanafilática caracterizada por um glaucoma secundário severo e descompensação corneana.

Abstract Marfan syndrome is an autosomal dominant inheritance disease that affects connective tissue with phenotypic manifestations involving the skeletal, cardiovascular and ocular systems. The main ocular manifestations are the subluxation of the lens, myopia and retinal detachment. The aim of this article was to report the clinical and surgical management of a patient with Marfan syndrome with luxated lens for the vitreous cavity and who developed a severe phacoanaphylactic reaction characterized by severe secondary glaucoma and corneal decompensation.

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Jalili syndrome (JS) is an autosomal recessive disease characterized by a combination of cone-rode retinal dytrophy (CRD) and amelogenesis imperfect (AI). Mutations in cyclin and CBS domain divalent metal cation transport mediator 4 (CNNM4) gene cause JS. Here we described 2 families (3 members) affected by JS. In the first family, JS was caused by the homozygous p.Leu324Pro (c.971T > C) missense mutation and the affected patient developed both CRD and AI. In the second family, a specific combination of a compound heterozygous mutation was found - the p.Leu324Pro (c.971T > C) missense transition and the novel p.Tyr581* (c.1743C > G) nonsense mutation. The proband showed CRD and AI, but her father just developed eye alterations. Together, these findings suggest that the p.Leu324Pro mutation in homozygosis induces a complete phenotype with both CRD and AI, but in heterozygosis and in composition with the novel p.Tyr581* nonsense mutation in CNNM4 promotes variable clinical expressivity, particularly with lack of dental phenotypes. These different phenotypes could be explained by deletions affecting the proband's homologous allele, epistasia or interactions with environmental factors leading to residual activity of protein.

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RESUMO O tracoma, tido equivocadamente como erradicado em nosso meio, encontra-se na lista de doenças negligenciadas. Trata-se da maior causa de cegueira evitável do mundo, sendo encontrado predominantemente nos países subdesenvolvidos. Diversos trabalhos têm demonstrado que esta doença atualmente se faz presente em todas as regiões do Brasil, o que evidencia que tanto o governo (nas esferas federal, estadual e municipal), quanto a academia devem continuar a considerar o tracoma entre as causas de cegueira em nosso meio. Neste trabalho, procurou-se levantar a prevalência de tracoma entre as crianças de sete a quinze anos matriculadas nas escolas da rede pública do município de Turmalina, MG. A pesquisa foi realizada neste município, situado no Vale do Jequitinhonha, considerando que existem nele regiões com populações em situação de alta vulnerabilidade social, portanto com características propícias para o surgimento da doença. Participaram da pesquisa seis médicos e onze enfermeiros com atuação na atenção primária, capacitados e padronizados para tal. Os profissionais de saúde realizaram o exame de 635 estudantes entre 7 a 15 anos nas escolas públicas de Turmalina, MG. Os estudantes com diagnóstico clínico de tracoma foram submetidos à raspagem de conjuntiva com swab e o material enviado para análise laboratorial. Todos os estudantes diagnosticados com tracoma foram tratados no Sistema Único de Saúde (SUS). Os dados coletados foram analisados com auxílio do software Statistical Package for Social Sciences, IBM Inc., USA - SPSS, versão 22.0. Entre os estudantes foi encontrada uma prevalência do tracoma de 4,7%, com predomínio nas áreas rurais.

ABSTRACT Trachoma has been mistakenly assumed as having been eradicated, but is on the list of neglected diseases. It is the leading cause of preventable blindness in the world, being found predominantly in developing countries. Several studies have shown that this disease is currently present in all regions of Brazil, which shows that both the government (at the federal, state and municipal levels) and academia must continue to treat trachoma as one of the causes of blindness. In this study, we sought to identify the prevalence of trachoma among schoolchildren aged between seven and 15 years from public schools in the municipality of Turmalina, Minas Gerais state. The survey was conducted in this municipality, located in the Jequitinhonha Valley, a region that contains populations who live in situations of high social vulnerability, and thus display the characteristics that are conducive to the emergence of the disease. The participants were six doctors and 11 nurses working in primary healthcare, trained and standardized to do so. Health professionals examined 635 students aged 7-15 years in the public schools of Turmalina. Students with a clinical diagnosis of trachoma underwent conjunctiva scraping with a swab and the material was sent for laboratory analysis. All school children diagnosed with trachoma were treated at the Unified Health System (SUS). The collected data were analyzed using the Statistical Package for Social Sciences software, IBM Inc., USA - SPSS, version 22.0. Among the students, a 4.7% prevalence rate of trachoma was found, predominantly in rural areas.

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ABSTRACT The current study aimed to analyze through a literature review evidence of association between ocular changes and non-syndromic cleft lip and/or palate (NSCL/P). A literature review was carried out in accordance with the Cochrane Collaboration Group protocol. PubMed, Scopus, Academic Google and ISI Web of Science databases were systematically searched. A total of 16 studies were accessed, and three made up the final sample.All three studied ocular abnormalities in patients with NSCL/P.The articles found ocular abnormalities in 6.21%, 17.54% and 1.03% of patients respectively.The presence of ocular abnormalities in patients with NSCL/P was significant in this systematic review, but the articles all agreed that future studies should explore the possibility of a greater occurrence of ocular changes in individuals with NSCL/P.

RESUMO O presente estudo teve como objetivo analisar evidências de associação entre as alterações oculares e fissuras lábio palatinas não sindrômicas (FL/PNS), através de uma revisão da literatura. Foi realizada a revisão da literatura com pesquisa sistemática, observando o protocolo de colaboração com o Grupo Cochrane. PubMed, Scopus, Google Acadêmico e ISI-Web of Science. A partir de16 estudos acessados, 3 compuseram a amostra final. Todos os trabalhos da amostra final relataram alterações oculares em pacientes com FL/PNS. Os artigos relataram respectivamente alterações oculares em 6,21%, 17,54% e 1,03% dos pacientes. A presença de alterações oculares em pacientes com FL /PNS foi significativa nesta revisão sistemática, mas todos os três artigos sugerem que futuros estudos deverão explorar a possibilidade de que haja um aumento de alterações oculares em indivíduos com FL/PNS.

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CONTEXT AND OBJECTIVE: Retinopathy of prematurity (ROP) is a known cause of blindness in which diagnosis and timely treatment can prevent serious harm to the child. This study aimed to evaluate the incidence of ROP and its association with known risk factors. DESIGN AND SETTING: Longitudinal incidence study in the neonatal intensive care unit (NICU) of Universidade Estadual de Montes Claros. METHODS: Newborns admitted to the NICU with gestational age less than 32 weeks and/or birth weight less than 1,500 grams, were followed up over a two-year period. The assessment and diagnosis of ROP were defined in accordance with a national protocol. The chi-square test or Fisher's exact test were used to determine associations between independent variables and ROP. Analysis on the independent effect of the variables on the results was performed using multiple logistic regression. RESULTS: The incidence of ROP was 44.5% (95% confidence interval, CI = 35.6-46.1) in the study population. The risk factors associated with the risk of developing the disease were: birth weight less than 1,000 grams (odds ratio, OR = 4.14; 95% CI = 1.34-12.77); gestational age less than 30 weeks (OR = 6.69; 95% CI = 2.10-21.31); use of blood derivatives (OR = 4.14; 95% CI = 2.99-8.99); and presence of sepsis (OR = 1.99; 95% CI = 1.45-2.40). CONCLUSIONS: The incidence of ROP was higher than that found in the literature. The main risk factors were related to extreme prematurity.

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CONTEXT AND OBJECTIVE: Retinopathy of prematurity (ROP) is a known cause of blindness in which diagnosis and timely treatment can prevent serious harm to the child. This study aimed to evaluate the incidence of ROP and its association with known risk factors. DESIGN AND SETTING: Longitudinal incidence study in the neonatal intensive care unit (NICU) of Universidade Estadual de Montes Claros. METHODS: Newborns admitted to the NICU with gestational age less than 32 weeks and/or birth weight less than 1,500 grams, were followed up over a two-year period. The assessment and diagnosis of ROP were defined in accordance with a national protocol. The chi-square test or Fisher's exact test were used to determine associations between independent variables and ROP. Analysis on the independent effect of the variables on the results was performed using multiple logistic regression. RESULTS: The incidence of ROP was 44.5% (95% confidence interval, CI = 35.6-46.1) in the study population. The risk factors associated with the risk of developing the disease were: birth weight less than 1,000 grams (odds ratio, OR = 4.14; 95% CI = 1.34-12.77); gestational age less than 30 weeks (OR = 6.69; 95% CI = 2.10-21.31); use of blood derivatives (OR = 4.14; 95% CI = 2.99-8.99); and presence of sepsis (OR = 1.99; 95% CI = 1.45-2.40). CONCLUSIONS: The incidence of ROP was higher than that found in the literature. The main risk factors were related to extreme prematurity. CONTEXTO E OBJETIVO: A retinopatia da prematuridade (ROP) é causa conhecida de cegueira e diagnóstico e tratamento oportunos podem evitar graves danos à criança. Este estudo objetivou avaliar a incidência da ROP e sua associação com fatores de risco conhecidos. .

TIPO E LOCAL DE ESTUDO: Estudo longitudinal de incidência na Unidade de Terapia Intensiva Neonatal (UTIN) da Universidade Estadual de Montes Claros. MÉTODOS: Foram acompanhados neonatos admitidos na UTIN, com idade gestacional menor que 32 semanas e/ou peso ao nascimento inferior a 1.500 gramas, por um período de dois anos. Avaliação e diagnóstico de ROP foram definidos conforme protocolo nacional. Utilizou-se o teste qui-quadrado ou teste exato de Fisher para determinar a associação entre as variáveis independentes e ROP. A análise do efeito independente das variáveis sobre o resultado (ROP) foi realizada por meio de regressão logística múltipla. RESULTADOS: A incidência de ROP foi de 44,5% (intervalo de confiança, IC 95% = 35,6-46,1) entre a população estudada. Os fatores de risco pesquisados que apresentaram relação de risco para o desenvolvimento da doença foram: peso de nascimento menor que 1000 gramas (odds ratio, OR = 4,14; IC 95% = 1,34;12,77), idade gestacional menor que 30 semanas (OR = 6,69; IC 95% = 2,10;21,31), uso de hemoderivados (OR = 4,14; IC 95% = 2,99;8,99) e presença de sepse (OR = 1,99; IC 95% = 1,45;2,40). CONCLUSÃO: A incidência de ROP foi maior que a encontrada na literatura. Os principais fatores de risco estão relacionados à prematuridade extrema. .

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OBJETIVO: Descrever as características clínicas e imaginológicas de duas famílias com a síndrome de Waardenburg, sendo uma do tipo I e outra do tipo II, enfatizando as manifestações oftalmológicas, bem como o padrão de herança genética. MÉTODO: Realizou-se um estudo clínico envolvendo as duas famílias afetadas pela síndrome de Waardenburg, sendo, através dos heredogramas, determinado o padrão de herança genética presente. Também foram realizadas análises oftalmológicas abordando a medida da acuidade visual, a presença de distopia cantorum (telecanto), a avaliação da coloração da íris e o mapeamento de retina, além de exames otológicos e dermatológicos. RESULTADOS: O heredograma da família afetada pela síndrome de Waardenburg tipo I revelou um modo autossômico dominante de transmissão. A condição estava presente em 85,71% dos pacientes. A distopia cantorum foi a alteração mais frequente, seguida pela mecha branca na pele da fronte, hipopigmentação da íris e da retina e surdez neurossensorial. A família com síndrome de Waardenburg tipo II apresentou 33,33% dos familiares com a alteração. Nenhum membro apresentou distopia cantorum e hipopigmentação de íris. Três pacientes apresentaram surdez neurossensorial (12,5%), associada ao topete branco e manchas acrômicas confluentes pelo corpo. CONCLUSÃO: O presente estudo mostra a importância do oftalmologista no auxílio do diagnóstico desta rara condição genética, uma vez que inclui alterações oftalmológicas como telecanto, hipopigmentação da íris e retina. A distopia cantorum é o principal critério diagnóstico para diferenciar o tipo I do II e deve ser feita por oftalmologista treinado. As famílias encontram-se em acompanhamento multiprofissional, tendo recebido orientações genéticas e os cuidados referentes à proteção ocular.

PURPOSE: To describe the clinical and imaginological features of two families with Waardenburg syndrome: type I and II, with emphasis on ophthalmic manifestations, as well as the pattern of genetic inheritance. METHODS: We conducted a clinical study involving two families affected by Waardenburg syndrome, and through the pedigree, determined the present pattern of genetic inheritance. Analyses were performed including the measurement of visual acuity, the presence of dystopia cantorum (telecanthus), evaluation of iris color and retinal mapping, as well as dermatological and otological examinations. RESULTS: The pedigree of the family affected by the Waardenburg syndrome type I showed an autosomal dominant mode of transmission. The syndrome was present at 85.71% of patients. The dystopia cantorum was the most frequent feature, followed by the white streak on the skin of the forehead, hypopigmentation of the iris and retina and deafness. The Waardenburg syndrome family type II had 33.33% of family members affected by the syndrome. No member had dystopia cantorum and hypopigmentation of the iris. Three patients had sensorineural hearing loss (12.5%), associated with white forelock and achromatic spots confluent by the body. CONCLUSION: This study shows the importance of the ophthalmologist in aiding the diagnosis of this rare genetic condition, since it includes ocular disorders such as telecanthus, hypopigmentation of the iris and retina. The cantorum dystopia is the main diagnostic criterion to differentiate type I and II syndrome and should be done by a trained ophthalmologist. The families are in medical monitoring, receiving genetic guidelines and care related to eye protection.

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OBJETIVO: Analisar os resultados da cirurgia combinada de catarata e glaucoma (FACO-TREC) e apresentar a técnica com o ponto escleral perilímbico. MÉTODOS: Estudo retrospectivo por levantamento de prontuários com informações sobre a pressão intraocular, acuidade visual, medicação hipotensora antes e depois da cirurgia e descrição do ato cirúrgico combinado (FACO-TREC), com acompanhamento mínimo de seis meses. Foram selecionados 10 pacientes com glaucoma e catarata (15 olhos), acompanhados de janeiro de 2005 a junho de 2007, no Departamento de Glaucoma da Santa Casa Olhos de Montes Claros (MG). A cirurgia de TREC utilizada foi a de base fórnix, sem uso de Mitomicina C, com a incisão principal da cirurgia de catarata realizada no mesmo sítio da TREC. A confecção do ponto escleral perilímbico se dá como uma sutura que se inicia na esclera nua, passa por cima do retalho escleral e é ancorada na esclera do outro lado do retalho. A conjuntiva é suturada com pontos simples por sobre o ponto. RESULTADOS: A acuidade visual, após seis meses da cirurgia mostrou-se melhor em 86,6% (13) dos olhos, inalterada em 6,66% (1 olho) e pior em 6,66%. A pressão intraocular média pré-operatória foi de 18,02 mmHg, a pós-operatória após 6 meses foi de 15,06 mmHg. Cinquenta por cento dos olhos operados ficaram livres dos colírios. CONCLUSÃO: Conclui-se que o ponto escleral perilímbico apresentou resultados favoráveis na obtenção de uma melhora na acuidade visual, redução da pressão intraocular e uma diminuição significativa no uso de drogas hipotensoras à custa de um número muito pequeno de complicações.

PURPOSE: To analyze the results of combined cataract and glaucoma surgery and to present the technique with scleral peri-limbic suture. METHODS: Retrospective study with review of the data about intraocular pressure, visual acuity, antihypertensive medication before and after surgery and description of the combined surgery technique, with follow up of six months. We selected 10 patients with glaucoma and cataract (15 eyes) followed up from January 2005 to June 2007 from Santa Casa Olhos de Montes Claros (MG). The glaucoma surgery was fornix-based, without use of mitomycin C, with the main cataract surgery incision performed on the same site The preparation of the scleral peri-limbic suture is given as a suture that begins on bare sclera, passes over the scleral flap and is anchored in the sclera on the other side of flap. The conjunctiva is sutured over the peri-limbic point. RESULTS: The visual acuity after six months of surgery was better in 86.6% of eyes, unchanged in 6.66% (one eye) and worse in 6.66. The mean preoperative IOP was 18.02 mmHg, after six postoperative months was 15.06 mmHg. Fifty percente of the eyes were free of eye drops. CONCLUSION: We conclude that scleral limbic suture showed favorable results in obtaining an improvement in visual acuity, reduction of intraocular pressure and a significant decrease in the use of hypotensive drugs at the expense of a very small number of complications.

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PURPOSE: To describe the clinical and imaginological features of two families with Waardenburg syndrome: type I and II, with emphasis on ophthalmic manifestations, as well as the pattern of genetic inheritance. METHODS: We conducted a clinical study involving two families affected by Waardenburg syndrome, and through the pedigree, determined the present pattern of genetic inheritance. Analyses were performed including the measurement of visual acuity, the presence of dystopia cantorum (telecanthus), evaluation of iris color and retinal mapping, as well as dermatological and otological examinations. RESULTS: The pedigree of the family affected by the Waardenburg syndrome type I showed an autosomal dominant mode of transmission. The syndrome was present at 85.71% of patients. The dystopia cantorum was the most frequent feature, followed by the white streak on the skin of the forehead, hypopigmentation of the iris and retina and deafness. The Waardenburg syndrome family type II had 33.33% of family members affected by the syndrome. No member had dystopia cantorum and hypopigmentation of the iris. Three patients had sensorineural hearing loss (12.5%), associated with white forelock and achromatic spots confluent by the body. CONCLUSION: This study shows the importance of the ophthalmologist in aiding the diagnosis of this rare genetic condition, since it includes ocular disorders such as telecanthus, hypopigmentation of the iris and retina. The cantorum dystopia is the main diagnostic criterion to differentiate type I and II syndrome and should be done by a trained ophthalmologist. The families are in medical monitoring, receiving genetic guidelines and care related to eye protection.

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