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Doctoral Thesis
DOI
https://doi.org/10.11606/T.5.2020.tde-18042021-194545
Document
Author
Full name
Mário Jorge Santos
E-mail
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2020
Supervisor
Committee
Alves, Milton Ruiz (President)
Carvalho, Keila Miriam Monteiro de
Lui Netto, Adamo
Zacharias, Leandro Cabral
Title in Portuguese
Avaliação oftalmológica de uma família com aniridia congênita
Keywords in Portuguese
Acuidade visual.
Aniridia
Anormalidades do olho
Mutação
Polimorfismo genético
Abstract in Portuguese
OBJETIVO: Descrever as manifestações clínicas e fenotípicas e o prognóstico visual de uma família com aniridia congênita (AC) no Nordeste do Brasil. MÉTODOS: Trata-se de um estudo transversal envolvendo 31 indivíduos (56 olhos), de uma mesma família que apresentava fenótipo de AC. A população do estudo residia no município de Água Branca, no sertão do estado de Alagoas, região nordeste do Brasil. Foram analisadas variáveis clínicas e fenotípicas. Para a análise, foi utilizada a estatística descritiva (frequência absoluta e relativa e medidas de tendência central e de dispersão) e inferencial (testes de Shapiro-Wilk e t Student). Considerou-se o intervalo de confiança de 95% e a significância de 5%. RESULTADOS: Dos 31 indivíduos, 18 (58,1%) eram do sexo masculino, com média de idade de 27,45±17,49, sem diferença entre os sexos. Dos 56 olhos avaliados, 26 eram olhos direitos e 30 olhos esquerdos: 61,3% (n=19) dos indivíduos apresentavam aniridia bilateral total; 25,8% (n=8) referiam perda total de percepção da luz em ambos os olhos. As anormalidades oculares mais prevalentes foram o nistagmo (n=27; 87,09%), catarata (n=20; 64,5%), estrabismo 14 (45,2%), alterações corneanas, como opacidades e/ou vascularização (n=13; 41,93%) e ectopia lentis (n=6; 19,4%). Treze indivíduos foram submetidos ao exame de tomografia de coerência óptica (OCT) retiniana, cinco homens e sete mulheres, com idade entre 9 e 48 anos (Média 30,15±15,9). Todos os pacientes apresentavam perda da depressão foveal, redução da espessura macular e redução da acuidade visual. Nove indivíduos foram submetidos a cirurgia de facoemulsificação. CONCLUSÃO: O estudo mostrou ampla variação fenotípica entre os indivíduos estudados, com pobre prognóstico visual. O estudo destaca a necessidade de estabelecer mecanismos de cuidado integral para as famílias com a doença.
Title in English
Ophthalmic evaluation of a family with congenital aniridia
Keywords in English
Aniridia
Eye abnormalities
Mutation
Polymorfism genetic
Visual acuity.
Abstract in English
OBJECTIVE: We aimed to describe the clinical and phenotypic manifestations as well as the visual prognosis of a family with congenital aniridia (CA) in Northeastern Brazil. METHODS: This was a cross-sectional study involving 31 individuals (56 eyes) from the same family presenting CA phenotypes. The study population resided in the municipality of Água Branca, in the backlands of the state of Alagoas, Northeastern Brazil. The clinical and phenotypic variables were analyzed. For the analysis, descriptive statistics (absolute and relative frequency and measures of central tendency and dispersion) and inferential statistics (Shapiro-Wilk and Student's t tests) were used, with 95% confidence intervals and significance set at 5%. RESULTS: Of the 31 individuals, 18 (58.1%) were male, with a mean age of 27.45 ± 17.49 years, with no difference between sexes. Of the 56 eyes evaluated, 26 and 30 were right and left eyes, respectively; 61.3% (n = 19) individuals had complete bilateral aniridia and 25.8% (n = 8) reported a total loss of light perception in both the eyes. The most prevalent ocular abnormalities were nystagmus (n = 27; 87.09%), cataract (n = 20; 64.5%), strabismus (n = 14; 45.2%), corneal changes such as opacities and/or vascularization (n = 13; 41.93%), and ectopia lentis (n = 6; 19.4%). Further, 13 individuals underwent retinal optical coherence tomography, six man and seven women aged 9-48 (mean, 30.15 ± 15.9) years. All patients presented absence of foveal depression as well as reduced macular thickness and visual acuity. Nine subjects underwent phacoemulsification. CONCLUSION: The study showed wide phenotypic variation among the studied individuals, with poor visual prognosis. The study highlights the need to establish comprehensive care mechanisms for families with the disease.
 
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Publishing Date
2021-06-16
 
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