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 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.
Keywords:
Aniridia; PAX6 gene; Phenotype; Congenital abnormalities/therapy, Visual acuity
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