Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study.

@article{Garne2018EpidemiologyOS,
  title={Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study.},
  author={Ester Garne and Anke Rissmann and Marie Claude Addor and Ingeborg Bari{\vs}i{\'c} and Jorieke E. H. Bergman and Paula Braz and Clara Cavero-Carbonell and Elizabeth S. Draper and Miriam Gatt and Martin Haeusler and Kari Klungs{\o}yr and Jennifer J Kurinczuk and Nathalie Lelong and Karen Luyt and Catherine Lynch and Mary T. O’Mahony and Olatz Mokoroa and V. J. Nelen and Amanda Julie Neville and Anna Pierini and Hanitra Randrianaivo and Judith Rankin and Florence Rouget and Bruno Schaub and David Tucker and Christine Verellen-Dumoulin and Diana Wellesley and Awi Wiesel and Nataliia Zymak-Zakutnia and Monica Lanzoni and Joan K. Morris},
  journal={European journal of medical genetics},
  year={2018},
  volume={61 9},
  pages={
          483-488
        }
}

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References

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Increased first trimester bleeding may indicate that SOD is a vascular disruption sequence, and is associated with younger maternal and paternal age, primigravida births and ethnic differences.

Increasing incidence of optic nerve hypoplasia/septo-optic dysplasia spectrum: Geographic clustering in Northern Canada.

A dramatic rise in the annual incidence of ONH/SOD was noted, which was strongly associated with poverty and northern communities, and the pattern was consistent with environmental or nutritional etiologies.

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Optic nerve hypoplasia is apparently associated not only with other anomolies, notably of the central nervous system, but also with signs of general disturbance in fetal development.

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It is concluded that unilateral ONH and SP remnants are associated with a milder SOD phenotype and the anamnestic data support the hypothesis of vascular disruption during embryogenesis.

Septo-optic dysplasia associated with congenital persistent fetal vasculature, retinal detachment, and gastroschisis.

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Maternal Age in Patients with Septo-optic Dysplasia

Patients with SOD are of normal birth weight and gestation but are born to mothers who are significantly younger than average, according to retrospective study of 30 patients attending the Royal Hospital for Sick Children, Glasgow.

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This case provides evidence for a vascular pathogenesis of SOD in some individuals and is supported by the sporadic occurrence of S OD and its association with decreased maternal age, vascular teratogens, and neuropathologic findings suggestive of vascular insults.

Hypothesis: septo-optic dysplasia is a vascular disruption sequence.

  • M. Lubinsky
  • Medicine
    American journal of medical genetics
  • 1997
Septo-optic dysplasia, a variable combination of absence of the septum pellucidum, optic nerve hypoplasia, and pituitary abnormalities, makes little embryologic sense, so vascular vulnerabilities of components, anatomical overlap with findings of hydranencephaly and porencephaly, and a decreased maternal age effect similar to that of other abnormalities with presumed vascular origins, suggest a vascular disruption sequence.