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Ophthalmological evaluation and integrated intervention in a family with congenital aniridia in Alagoas, Brazil

Santos, Mario Jorge; Alves, Milton Ruiz; Souza, Carlos Dornels Freire de; Coronado, Bruno Nobre Lins; Souza, Janaina Christina Norberto de.
Rev. bras. oftalmol; 79 (6), 2020
Abstract Objective: We aimed to describe the clinical and phenotypic manifestations as well as the visual prognosis of a family with 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 populatio...
Aniridia/diagnóstico, Brasil, Pronóstico, Familia, Fenotipo, Estudios Transversales, Factor de Transcripción PAX6, Estudio Observacional
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WAGRO syndrome: a rare genetic condition associated with aniridia and additional ophthalmologic abnormalities

Ferreira, Maria Angélica Tosi; Almeida Júnior, Ivan Gonçalves de; Kuratani, Daniel Kanami; Rosa, Rafael Fabiano Machado; Gonzales, João Francisco de Oliveira; Telles, Lisieux Elaine de Borba; Ferrão, Ygor Arzeno; Zen, Paulo Ricardo Gazzola.
Arq. bras. oftalmol; 82 (4), 2019
ABSTRACT Aniridia is a congenital eye disorder with a variable degree of hypoplasia or absence of iris tissue. It is caused by loss of function of the PAX6 gene and may be an isolated ocular abnormality or part of a syndrome. WAGRO refers to a rare genetic condition leading to Wilms tumor, aniridia, geni...
Aniridia/diagnóstico, Aniridia/genética, Catarata/diagnóstico, Catarata/genética, Deleción Cromosómica, Cromosomas Humanos Par 11/genética, Cariotipo, Subluxación del Cristalino/diagnóstico, Subluxación del Cristalino/genética, Obesidad/diagnóstico, Obesidad/genética, Síndrome WAGR/diagnóstico, Síndrome WAGR/genética
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Aspectos biomicroscópicos, tensionais e oftalmoscópicos da aniridia
Biomicroscopic, tensional and ophthalmoscopic aspects of aniridia

Cronemberger, Sebastiäo; Calixto, Nassim.
Arq. bras. oftalmol; 58 (4), 1995
São apresentados os resultados do estudo de 67 olhos (35 pacientes) com aniridia, dando-se ênfase para os achados biomicroscópicos, tensionais e oftalmoscópicos. Diagnosticou-se glaucoma em 14 olhos (21,2 por cento) de oito pacientes. Foi comprovada por tonometriais isoladas e exames de curva diária...
Aniridia/fisiopatología, Microscopía, Oftalmoscopía, Presión Intraocular, Aniridia/diagnóstico, Gonioscopía