This paper reports on a 36-year-old woman with GAPO syndrome, a rare autosomal recessive condition characterized by growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). Her parents are consanguineous and one of her sisters is also affected. Since the first description by Anderson and Pindborg in 1947, 27 individuals have been reported with this diagnosis. They were from at least 19 different families (four of them from Brazil, including the present one), suggesting a founder effect. The phenotype of this condition, initially considered as the result of an ectodermal dysplasia, could be attributed to the accumulation of extracellular connective tissue matrix and its progressive character must be pointed out. The clinical findings, especially ophthalmological features that include bilateral glaucoma, are reviewed and discussed.

Este estudo objetivou avaliar e conhecer o comportamento visual de lactentes no primeiro e segundo meses de vida. Os participantes foram 66 lactentes procedentes da região metropolitana de Campinas, nascidos no Centro de Atenção Integral à Saúde da Mulher da Universidade Estadual de Campinas (CAISM/UNICAMP), assintomáticos, com peso ao nascimento variando de 3000g a 4140g, integrantes do Programa de Detecção de Alterações Audiológicas em Neonatos (DAANE), que compareceram ao Centro de Estudos e Pesquisas em Reabilitação "Prof. Dr. Gabriel Porto" da Faculdade de Ciências Médicas (CEPRE/FCM/UNICAMP) para triagem auditiva e cujos pais concordaram em participar do estudo. Para avaliação do comportamento visual utilizou-se o Método de Avaliação da Conduta Visual em Lactentes. A análise dos resultados utilizando-se o SPSS (Statistical Package for Social Sciences, versão 13) revelou, no primeiro mês, um destaque para as provas: fixação visual 97,62%, contato de olho 97,62%, sorriso 52,38%, seguimento visual horizontal 97,62% e seguimento visual vertical 52,38%. No segundo mês obteve-se 100% de resposta para as provas fixação visual, contato de olho, sorriso, seguimento visual horizontal e vertical. Os resultados obtidos no presente estudo estão em concordância com dados de estudos recentes sobre o comportamento visual de lactentes no primeiro trimestre de vida. A possibilidade de detectar oportunamente alterações no desenvolvimento visual está ligada a um diagnóstico oportuno e a um pronto encaminhamento a serviços de habilitação infantil, favorecendo, assim, a qualidade de vida das crianças e suas famílias.

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Age-related macular degeneration is a multifactorial disease that can lead to vision impairment in older individuals. Although the etiology of age-related macular degeneration remains unknown, risk factors include age, ethnicity, smoking, hypertension, obesity, and genetic factors. Two main loci have been identified through genome-wide association studies, on chromosomes 1 and 10. Among the variants located at the 10q26 region, rs11200638, located at the HTRA1 gene promoter, has been associated with age-related macular degeneration in several populations and is considered the main polymorphism. We conducted a replication case-control study to analyze the frequency and participation of rs11200638 in the etiology of age-related macular degeneration in a sample of patients and controls from the State of São Paulo, Brazil, through polymerase chain reaction and enzymatic digestion. The frequency of the A allele was 57.60% in patients with age-related macular degeneration and 36.45% in controls (p value < 1e-07), representing a 2.369-fold higher risk factor for the disease. Both the AA and AG genotypes were observed more frequently in the age-related macular degeneration group compared to the control group (p = 1.21 and 0.0357, respectively). No statistically significant results were observed after stratification in dry versus wet types or advanced versus non-advanced forms. To our knowledge, this is the first time the association between rs11200638 and overall age-related macular degeneration has been reported in South America.

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