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      Genomics Precision Diagnostic > Ophthalmology Precision Panel > Congenital Cataract Precision Panel

      Congenital Cataract Precision Panel

      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.
      Overview
      Indication
      Clinical Utility
      Genes & Diseases
      Methodology
      References

      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.  

      Indication

      • The Igenomix Congenital Cataracts Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations: 
        • Lenticular opacity 
        • Irregular red reflex 
        • White reflex 
        • Retinal detachment 

      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. 

      Genes & Diseases

      Methodology

      References

      See scientific referrals

      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 

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      • We guide you
        • Fertility
          • What to do if…
        • Prevent Inherited Diseases
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        • Worry-free Pregnancy
          • NACE
          • Prenatal Diagnostics
          • Newborn Health
      • Reproductive Health
        • Specialists
          • ALICE
          • EMMA
          • ERA
          • EndomeTRIO
          • EMBRACE
          • CGT
          • NACE
          • Zenit
          • PGT-A
          • PGT-M
          • POC
          • SAT
          • Newborn Screening
        • Patients
          • ALICE
          • EMMA
          • ERA
          • EndomeTRIO
          • EMBRACE
          • CGT
          • NACE
          • Zenit
          • PGT-A
          • PGT-M
          • SAT
          • POC
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