Reappraisal of the Optic Nerve Hypoplasia Syndrome

@article{Borchert2012ReappraisalOT,
  title={Reappraisal of the Optic Nerve Hypoplasia Syndrome},
  author={Mark S. Borchert},
  journal={Journal of Neuro-Ophthalmology},
  year={2012},
  volume={32},
  pages={58–67}
}
  • M. Borchert
  • Published 1 March 2012
  • Medicine
  • Journal of Neuro-Ophthalmology
Background Optic nerve hypoplasia (ONH) has been described as an increasingly prevalent cause of congenital blindness. Its association with hypopituitarism and absent septum pellucidum has been recognized for more than 40 years as “septo-optic dysplasia” or “de Morsier syndrome.” More recent studies have suggested that these associations are independent of one another. This review was designed to assess the historical and recent evidence for associations of neuroradiologic, endocrinologic, and… 

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  • 2020
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This narrative review focuses on the management of Septo-optic dysplasia patients, including their diagnosis, treatment and follow-up, and on the etiology and epidemiology.

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Septo-optic dysplasia.

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Forensic pathologists need to be aware of SOD because it predisposes to SUD and an appreciation of the underlying neuroendocrine complexities of the disorder is required for proper death certification.

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A significant proportion of children with ONH have endocrine dysfunction and the high frequency of pubertal disturbances in this study emphasizes the need for long-term monitoring of developing endocrinopathy.

Septo-optic dysplasia/de Morsier's syndrome

It is thought that combined anesthesia contributed to the abolition of pain and avoided adrenal suppression contributing for the success of the procedure.
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