Overview
- 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.
Clinical Utility
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team in the form of medical therapy to prevent the progression to amblyopia, cataract surgery and dietary restrictions in the cause of galactosemia.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
References
Shiels, A., & Hejtmancik, J. F. (2017). Mutations and mechanisms in congenital and age-related cataracts. Experimental eye research, 156, 95–102. https://doi.org/10.1016/j.exer.2016.06.011
Li, J., Chen, X., Yan, Y., & Yao, K. (2020). Molecular genetics of congenital cataracts. Experimental eye research, 191, 107872. https://doi.org/10.1016/j.exer.2019.107872
Shiels, A., & Hejtmancik, J. F. (2019). Biology of Inherited Cataracts and Opportunities for Treatment. Annual review of vision science, 5, 123–149. https://doi.org/10.1146/annurev-vision-091517-034346
Ceyhan, D., Schnall, B. M., Breckenridge, A., Fontanarosa, J., Lehman, S. S., & Calhoun, J. C. (2005). Risk factors for amblyopia in congenital anterior lens opacities. Journal of American Association for Pediatric Ophthalmology and Strabismus, 9(6), 537-541. doi:10.1016/j.jaapos.2005.09.001
Cassidy, L., & Taylor, D. (1999). Congenital cataract and multisystem disorders. Eye, 13(3), 464-473. doi:10.1038/eye.1999.123
Ma, A. S., Grigg, J. R., Ho, G., Prokudin, I., Farnsworth, E., Holman, K., Cheng, A., Billson, F. A., Martin, F., Fraser, C., Mowat, D., Smith, J., Christodoulou, J., Flaherty, M., Bennetts, B., & Jamieson, R. V. (2016). Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. Human mutation, 37(4), 371–384. https://doi.org/10.1002/humu.22948