Abstract
Lens opacities or cataracts in children are usually congenital and/or hereditary and less often are secondary to trauma, infections, or systemic disorders such as diabetes or galactosemia. Congenital cataracts cause approximately one-third of blindness in infants worldwide. Between 8% and 25% of congenital cataracts are inherited, and knowledge of their genetic architecture is increasing. Delineating the relationship between the genes and mutations causing cataracts and their phenotypic presentation can help us to understand the biology of the lens and provide a framework for the clinical approach to diagnosis and therapy.
Cataracts (as well as corneal or vitreous opacities) in children must be diagnosed and treated early to prevent permanent vision loss due to amblyopia. In young children, an obvious opacification of the visual axis, inability to follow a hand light consistently, and/or a poor pupillary red reflex on ophthalmoscopy should quickly lead to a referral to an ophthalmologist for further investigation and management. Once a lens opacity has been identified, in addition to prompt surgical management when deemed necessary, a workup for possible cause should be initiated. Establishing a genetic cause of cataract can be helpful in establishing comorbidities, both ocular and systemic.
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Shoshany, N., Hejtmancik, F., Shiels, A., Datiles, M.B. (2020). Congenital and Hereditary Cataracts: Epidemiology and Genetics. In: Kraus, C. (eds) Pediatric Cataract Surgery and IOL Implantation. Springer, Cham. https://doi.org/10.1007/978-3-030-38938-3_1
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