- 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:
- 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 regular ophthalmologic examination, low vision aids and preventive measures such as avoidance of alcohol, tobacco and some medications.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Lenaers, G., Hamel, C., Delettre, C., Amati-Bonneau, P., Procaccio, V., Bonneau, D., Reynier, P., & Milea, D. (2012). Dominant optic atrophy. Orphanet journal of rare diseases, 7, 46. https://doi.org/10.1186/1750-1172-7-46
Votruba, M., Moore, A. T., & Bhattacharya, S. S. (1998). Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy. Journal of medical genetics, 35(10), 793–800. https://doi.org/10.1136/jmg.35.10.793
Jones, R., Al-Hayouti, H., Oladiwura, D., Karim, R., Sawczenko, A., & Dahlmann-Noor, A. (2020). Optic atrophy in children: Current causes and diagnostic approach. European journal of ophthalmology, 30(6), 1499–1505. https://doi.org/10.1177/1120672119899378
Chun, B. Y., & Rizzo, J. F., 3rd (2017). Dominant Optic Atrophy and Leber’s Hereditary Optic Neuropathy: Update on Clinical Features and Current Therapeutic Approaches. Seminars in pediatric neurology, 24(2), 129–134. https://doi.org/10.1016/j.spen.2017.06.001
Vaphiades, M. S., & Brodsky, M. C. (2012). Pediatric optic atrophy. International ophthalmology clinics, 52(3), 17–xiii. https://doi.org/10.1097/IIO.0b013e31825a14ba
Pilz, Y. L., Bass, S. J., & Sherman, J. (2017). A Review of Mitochondrial Optic Neuropathies: From Inherited to Acquired Forms. Journal of optometry, 10(4), 205–214. https://doi.org/10.1016/j.optom.2016.09.003