Abstract
Ocular malformations represent a wide spectrum of disease, ranging from reduced size or hypoplasia (microphthalmia) to complete ocular absence (anophthalmia). The incidence rate varies between 0.18 and 0.33 per 10,000 live births, with both conditions having complex etiologies, including genetic and environmental factors. Early diagnosis is crucial to provide counselling and intervention and is best achieved with pre-natal ultrasound. Multidisciplinary care, involving geneticists, obstetricians and ophthalmologists, will aim to address visual impairment, developmental delays, and associated syndromes, enhancing patient outcomes.
Published Version
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