Reappraisal of the Optic Nerve Hypoplasia Syndrome

  title={Reappraisal of the Optic Nerve Hypoplasia Syndrome},
  author={Mark S. Borchert},
  journal={Journal of Neuro-Ophthalmology},
  • 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… 

Optic Nerve Hypoplasia Syndrome: A Review of the Epidemiology and Clinical Associations

Children with ONH require monitoring for many systemic, developmental, and even life-threatening problems independent of the severity of ONH and presence of brain malformations including abnormalities of the septum pellucidum.

Optic Nerve Hypoplasia: "Neural Guidance" and the Role of Mentorship.

  • M. Brodsky
  • Medicine
    Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
  • 2020
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

Neuro-Ophthalmological Manifestations Of Septo-Optic Dysplasia: Current Perspectives

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.

Importance of diagnosing optic nerve hypoplasia and the role of ophthalmologists

The role of ophthalmologists includes the prescription of optical correction and aids, occlusion, and early visual stimulation at an appropriate age, which are all extremely important for the development and rehabilitation of affected children.

Septo-optic dysplasia.

Optic nerve hypoplasia in children - prevalence, associated disorders and genetic causes

The genetic study suggests that a genetic cause of ONH is more common than previously reported and highlights COL4A1 andCOL4A2 as candidate genes.

Sudden Death in the Septo-Optic Dysplasia Spectrum

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.

Endocrine and pubertal disturbances in optic nerve hypoplasia, from infancy to adolescence

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.



Optic nerve hypoplasia: associations and management.

It is important that careful neurological and developmental assessments are carried out in children with optic nerve hypoplasia to identify potential disease and the role of imaging is discussed.

Optic nerve hypoplasia: septo-optic-pituitary dysplasia syndrome.

  • T. E. Acers
  • Medicine
    Transactions of the American Ophthalmological Society
  • 1981
Twelve patients with partial or complete absence of the septum pellucidum, six demonstrated evidence of pituitary hypofunction--the septo-optic-pituitary dysplasia syndrome.

Septo-optic dysplasia as a manifestation of valproic acid embryopathy.

This case reports the first case of septo-optic dysplasia associated with maternal exposure to valproic acid throughout pregnancy, and expands the clinical phenotype of valproate embryopathy.

Hypopituitarism and Neurodevelopmental Abnormalities in Relation to Central Nervous System Structural Defects in Children with Optic Nerve Hypoplasia

The spectrum of endocrinopathy in a cohort of children with Optic nerve hypoplasia was characterized and the presence of different midline CNS findings with the degree of hypopituitarism was attempted to correlate.

Optic nerve hypoplasia. Clinical significance of associated central nervous system abnormalities on magnetic resonance imaging.

Magnetic resonance imaging can now be used to provide specific prognostic information regarding the likelihood of neurodevelopmental deficits and pituitary hormone deficiency in infants with optic nerve hypoplasia and the prevailing notion of septo-optic dysplasia should be reconsidered.

Neuroradiographic, Endocrinologic, and Ophthalmic Correlates of Adverse Developmental Outcomes in Children With Optic Nerve Hypoplasia: A Prospective Study

Preliminary data confirm the significant association of developmental delay with optic nerve hypoplasia and identify corpus callosum hypplasia and hypothyroidism as strong correlates.

Optic nerve hypoplasia with hypopituitarism. Septo-optic dysplasia with hypopituitarism.

Clinical and pathological findings indicate that the brain lesion might be more diffuse than hitherto recognized and timely intervention might diminish serious sequels of optic nerve hypoplasia with hypopituitarism.

Magnetic resonance diagnosis of congenital hypopituitarism in children with optic nerve hypoplasia.

  • P. H. PhillipsC. SpearM. Brodsky
  • Medicine, Biology
    Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
  • 2001
MRI of the neurohypophysis can predict when congenital hypopituitarism will be associated with optic nerve hypoplasia, as detected by magnetic resonance imaging (MRI).


The findings suggest that CONH probably is not a homogeneous group of disorders; some may be caused by primary failure of differentiation of the retinal ganglion cells, while others may be the product of an acquired transsynaptic degeneration of optic‐nerve fibres.