Inherited Retinal Degeneration (IRD) are a group of rare retinal diseases that ultimately lead to the progressive loss of retinal photoreceptor cells and blindness. These diseases are phenotypically heterogeneous as they can affect individuals of all ages, can progress at different rates and are rare. IRDs are caused by mutations in genes that contribute to proper retinal function, where some genes mutations can cause more severe forms than others. Examples of these diseases include age-related macular degeneration, Leber congenital amaurosis, Stargardt disease and retinitis pigmentosa. Inherited retinal degeneration can be inherited in all modes of inheritance: autosomal dominant, autosomal recessive, X-linked and mitochondria.
The Igenomix Inherited Retinal Degeneration Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of progressive 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 Igenomix Inherited Retinal Degeneration Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Blurred vision
- Family history of inhertied retinal degeneration
- Difficulties with peripheral vision
- Difficulties with color vision
- Reduction in the sharpness of vision
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 stem cell therapy, gene therapy and optogenetic therapy. Surgical care with retinal prosthetics and neuroprotective agents to prevent visual complications.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
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