A cataract is a loss of lens transparency. The crystalline lens plays a crucial role in the refractive vision by facilitating variable fine focusing of light onto the retina. Congenital cataracts are usually diagnosed at birth, failure to do so can result in permanent vision loss. They are the most common cause of visual impairment and blindness in children worldwide. Genetic, metabolic, traumatic and infectious factors can all lead to childhood cataracts. However, about one quarter of congenital cataracts are associated to genetic defects, are usually bilateral and quite heterogeneous. Congenital cataracts can be inherited in an autosomal dominant or recessive pattern as well as X-linked.
The Igenomix Congenital Cataracts Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of blindness ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The clinical utility of this panel is:
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