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Delineating septo-optic dysplasia
Mark Lubinsky1, Férechté Encha-Razavi2
1Necker University Hospital, Paris, France.
Birth Defects Research
|October 6, 2022
Summary
Septo-optic dysplasia (SOD) is a vascular sequence. Disruptions in the anterior cerebral artery cause optic nerve hypoplasia (ONH) and septum pellucidum defects (SPD), which can extend to the pituitary or cortex.
Area of Science:
- Neuroscience
- Developmental Biology
- Genetics
Background:
- Septo-optic dysplasia (SOD) is characterized by septum pellucidum defects (SPD), optic nerve hypoplasia (ONH), and hypopituitarism.
- The definition and scope of SOD have expanded, leading to uncertainty regarding its causes and limits.
Purpose of the Study:
- To review the literature on septo-optic dysplasia (SOD).
- To clarify the underlying vascular mechanisms and spectrum of anomalies associated with SOD.
Main Methods:
- A comprehensive literature review was conducted.
Main Results:
- SOD is understood as a complex vascular sequence with confounding factors.
- Disruptions of the proximal anterior cerebral artery trunk are the primary cause, leading to ONH and SPD.
- Anomalies can extend unidirectionally from ONH to the pituitary or from SPD to the cerebral cortex.
Conclusions:
- Isolated pituitary or cortical defects are not part of SOD.
- By-products of these disruptions can cause cognitive, endocrine, and structural issues.
- Increasing rates of midline defects may be linked to exogenous exposures influencing midline predispositions.
