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        Genomics Precision Diagnostic > Ophthalmology Precision Panel > Leber Congenital Amaurosis Precision Panel

        Leber Congenital Amaurosis Precision Panel

        Leber Congenital Amaurosis (LCA) belongs to the spectrum of early-onset retinal dystrophies. It is a group of monogenic inherited retinal degenerations that show early onset and severe visual dysfunction. 
        Overview
        Indication
        Clinical Utility
        Genes & Diseases
        Methodology
        References

        Overview

        • Leber Congenital Amaurosis (LCA) belongs to the spectrum of early-onset retinal dystrophies. It is a group of monogenic inherited retinal degenerations that show early onset and severe visual dysfunction. Although it is a genetically and phenotypically heterogeneous group of disease it presents in the first few years of life, most often before the age of 1 year and is characterized by wandering nystagmus and reduced vision from birth. Patients may have normal intelligence, but data has demonstrated that as many as 20% develop intellectual disability. The genetic causes of these diseases are due to mutations in genes that play a role in the development and function of the retina and is generally inherited in an autosomal recessive pattern. 
        • The Igenomix Leber Congenital Amaurosis 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 Leber Congenital Amaurosis Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations: 
          • Nystagmus   
          • Amaurotic pupil response 
          • Visual loss 
          • Photophobia 
          • Cone-shaped cornea 
          • Strabismus 
          • Cataract 
          • Abnormal retinal pigment 

        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 novel gene therapy and medical care. 
        • Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance. 
        • Detect novel disease-causing genes and novel variant in disease-causing genes.

        Genes & Diseases

        Methodology

        References

        See scientific referrals

        Tsang, S. H., & Sharma, T. (2018). Leber Congenital Amaurosis. Advances in experimental medicine and biology, 1085, 131–137. https://doi.org/10.1007/978-3-319-95046-4_26 

        Cideciyan, A. V., & Jacobson, S. G. (2019). Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision. Investigative ophthalmology & visual science, 60(5), 1680–1695. https://doi.org/10.1167/iovs.19-26672 

        Kumaran, N., Moore, A. T., Weleber, R. G., & Michaelides, M. (2017). Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. The British journal of ophthalmology, 101(9), 1147–1154. https://doi.org/10.1136/bjophthalmol-2016-309975 

        Kondkar, A., & Abu-Amero, K. (2019). Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine. Experimental Eye Research, 189, 107834. doi: 10.1016/j.exer.2019.107834 

        Takkar, B., Bansal, P., & Venkatesh, P. (2018). Leber’s Congenital Amaurosis and Gene Therapy. Indian journal of pediatrics, 85(3), 237–242. https://doi.org/10.1007/s12098-017-2394-1 

        Thompson, J. A., De Roach, J. N., McLaren, T. L., & Lamey, T. M. (2018). A Mini-Review: Leber Congenital Amaurosis: Identification of Disease-Causing Variants and Personalised Therapies. Advances in experimental medicine and biology, 1074, 265–271. https://doi.org/10.1007/978-3-319-75402-4_32 

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