Optic nerve hypoplasia (ONH) is a medical condition arising from the underdevelopment of the optic nerve(s). This condition is the most common congenital optic nerve anomaly. The optic disc appears abnormally small, because not all the optic nerve axons have developed properly.[1] It is often associated with endocrinopathies (hormone deficiencies), developmental delay, and brain malformations.[2] The optic nerve, which is responsible for transmitting visual signals from the retina to the brain, has approximately 1.2 million nerve fibers in the average person. In those diagnosed with ONH, however, there are noticeably fewer nerves.
^Sadun, Alfredo A., and Michelle Y. Wang. Handbook of Clinical Neurology. p. 37. In press.
^Chen, Chun-An; Yin, Jiani; Lewis, Richard Alan; Schaaf, Christian P (July 2017). "Genetic causes of optic nerve hypoplasia". Journal of Medical Genetics. 54 (7): 441–449. doi:10.1136/jmedgenet-2017-104626. PMID 28501829.
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