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

Ester Garne*, Anke Rissmann, Marie Claude Addor, Ingeborg Barisic, Jorieke Bergman, Paula Braz, Clara Cavero-Carbonell, Elizabeth S. Draper, Miriam Gatt, Martin Haeusler, Kari Klungsoyr, Jennifer J. Kurinczuk, Nathalie Lelong, Karen Luyt, Catherine Lynch, Mary T. O'Mahony, Olatz Mokoroa, Vera Nelen, Amanda J. Neville, Anna PieriniHanitra Randrianaivo, Judith Rankin, Florence Rouget, Bruno Schaub, David Tucker, Christine Verellen-Dumoulin, Diana Wellesley, Awi Wiesel, Nataliia Zymak-Zakutnia, Monica Lanzoni, Joan K. Morris

*Corresponding author for this work

Research output: Contribution to journalArticle (Academic Journal)peer-review

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Septo-optic nerve dysplasia is a rare congenital anomaly with optic nerve hypoplasia, pituitary hormone deficiencies and midline developmental defects of the brain. The clinical findings are visual impairment, hypopituitarism and developmental delays. The aim of this study was to report prevalence, associated anomalies, maternal age and other epidemiological factors from a large European population based network of congenital anomaly registries (EUROCAT). Data from 29 full member registries for the years 2005–2014 were included, covering 6.4 million births. There were 99 cases with a diagnosis of septo-optic dysplasia. The prevalence of septo-optic dysplasia in Europe was calculated to lie between 1.9 and 2.5 per 100,000 births after adjusting for potential under-reporting in some registries. The prevalence was highest in babies of mothers aged 20–24 years of age and was significantly higher in UK registries compared with other EUROCAT registries (P = 0.021 in the multilevel model) and the additional risk for younger mothers was significantly greater in the UK compared to the rest of Europe (P = 0.027). The majority of septo-optic dysplasia cases were classified as an isolated cerebral anomaly (N = 76, 77%). Forty percent of diagnoses occurred in fetuses with a prenatal diagnosis. The anomaly may not be visible at birth, which is reflected in that 57% of the postnatal diagnoses occurred over 1 month after birth. This is the first population based study to describe the prevalence of septo-optic dysplasia in Europe. Septo-optic dysplasia shares epidemiological patterns with gastroschisis and this strengthens the hypothesis of vascular disruption being an aetiological factor for septo-optic dysplasia.

Original languageEnglish
Pages (from-to)483-488
Number of pages6
JournalEuropean Journal of Medical Genetics
Issue number9
Early online date10 Mar 2018
Publication statusPublished - Sept 2018


  • Associated anomalies
  • Maternal age
  • Population based
  • Prevalence
  • Septo-optic dysplasia


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