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
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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.
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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.
References
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