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Updated: Dec 10, 2025

Accurate and Simple Evaluation of Vascular Anastomoses in Monochorionic Placenta using Colored Dye
09:52

Accurate and Simple Evaluation of Vascular Anastomoses in Monochorionic Placenta using Colored Dye

Published on: September 5, 2011

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Bilateral Morning Glory Syndrome with Bilateral Persistent Fetal Vasculature in a Patient with Joubert's Syndrome

Ahmad Bilal Araissi1, Alaa Fayed1, Youssef Helmy1

  • 1Department of Ophthalmology, Kasr Al-Ainy Hospitals, Cairo University, Giza, Egypt.

Case Reports in Medicine
|August 28, 2020
PubMed

Insights

This case report details a rare association of bilateral persistent fetal vasculature (PFV) and morning glory syndrome (MGS) in a child with Joubert syndrome, highlighting previously undescribed optic nerve abnormalities.

Area of Science:

  • Ophthalmology
  • Pediatric Neurology
  • Medical Genetics

Background:

  • Persistent fetal vasculature (PFV) and morning glory syndrome (MGS) are congenital ocular anomalies.
  • Joubert syndrome is a rare genetic disorder affecting brain development, particularly the cerebellum.

Observation:

  • A 1-year-old girl presented with bilateral ptosis, poor fixation, cerebellar anomaly, and developmental delay.
  • Ophthalmologic examination revealed bilateral MGS and PFV with dysplastic optic discs and fibrovascular tissue.
  • Brain imaging showed the characteristic "molar tooth appearance" of Joubert syndrome.

Findings:

  • This is the first reported case of co-occurring bilateral MGS, bilateral PFV, and Joubert syndrome.
  • The case documents associated optic nerve disease in Joubert syndrome, not previously described.
  • These optic nerve anomalies contribute to visual impairment in affected individuals.

Implications:

  • This finding expands the understanding of the phenotypic spectrum of Joubert syndrome.
  • It emphasizes the importance of comprehensive ophthalmologic evaluation in children with Joubert syndrome.
  • Recognizing these optic nerve findings can aid in managing visual deficits in this population.

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