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Related Experiment Videos

Eye abnormalities in Fryns syndrome.

Diane M Pierson1, Eugenio Taboada, Merlin G Butler

  • 1Department of Pathology, Mayo Clinic, Rochester, Minnesota, USA.

American Journal of Medical Genetics. Part A
|March 3, 2004
PubMed
Summary

Fryns syndrome, a rare congenital anomaly, can cause severe eye abnormalities like microphthalmia and cloudy corneas, impacting neurological outcomes in survivors. Early identification of these ocular findings is crucial for affected infants.

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Area of Science:

  • Genetics and Developmental Biology
  • Ophthalmology
  • Clinical Genetics

Background:

  • Fryns syndrome is a rare, autosomal recessive multiple congenital anomaly (MCA) syndrome.
  • It is characterized by diaphragmatic defects, brain malformations, and distal limb deformities.

Observation:

  • Eye findings, though not always prominent, are present in Fryns syndrome.
  • Cloudy cornea was initially considered a major sign but is now less frequently reported.
  • Abnormal ocular findings can lead to amblyopia and blindness, impacting neurological development.

Findings:

  • A review of 77 reported Fryns syndrome cases identified abnormal eye findings in 12.
  • Three new cases are presented, with one exhibiting unilateral microphthalmia and cloudy cornea.

Related Experiment Videos

  • This highlights the continued relevance of ocular manifestations in Fryns syndrome.

    • Implications:

    • Ocular abnormalities in Fryns syndrome can significantly affect long-term neurological outcomes.
    • Increased awareness and reporting of eye findings are necessary for comprehensive patient management.
    • Further research into the specific mechanisms of ocular defects in Fryns syndrome is warranted.