Over the past 50 years, our understanding of optic nerve hypoplasia has advanced in a series of waves, with each wave producing a paradigm shift in clinical diagnosis and management. First was the recognition that optic nerve hypoplasia is a condition distinct from optic atrophy and is a frequent cause of blindness in children. Second was the identification of associated brain malformations. Third was the realization that many children with optic nerve hypoplasia have hypopituitarism. Fourth was the identification of segmental forms of optic nerve hypoplasia. Fifth was the recognition that some children are at risk for sudden death, which can often be prevented with preemptive measures. Last was the identification of additional systemic accompaniments. Genetic studies have been largely unfruitful and, for most cases, the cause remains unknown.
|Original language||English (US)|
|Journal||Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society|
|State||Published - Sep 1 2020|
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