Optic atrophy is the clinical manifestation of any disease process causing axon degeneration in the retinogeniculate pathway. Particularly, these diseases affect the retinal ganglion cells and their axons forming the optic nerve, which are in charge of transferring the visual information from the photoreceptors to the lateral geniculus in the brain. Optic atrophy is clinically seen as changes in the color and the structure of the optic disc associated with variable degrees of visual dysfunction starting typically in the first decade of life. It is a relative common form of inherited optic neuropathy and it may be syndromic which can include extra-ocular symptoms mostly neuromuscular. The mode of inheritance varies from mitochondrial, autosomal dominant and recessive.
The Igenomix Optic Atrophy 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 clinical utility of this panel is:
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