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Congenital cataract in a child with pyridoxine-dependent epilepsy

Imran H Yusuf1, Victoria Sandford, Göran Darius Hildebrand

  • 1Royal Berkshire Hospital NHS Foundation Trust, Reading, United Kingdom.

Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|April 23, 2013
PubMed

Insights

Pyridoxine-dependent epilepsy (PDE), a neonatal epileptic encephalopathy, can cause bilateral cataracts. This novel observation links ALDH7A1 gene mutations to both epilepsy and vision impairment, suggesting osmotic stress impacts fetal cataract development.

Area of Science:

  • Ophthalmology
  • Genetics
  • Neurology

Background:

  • Pyridoxine-dependent epilepsy (PDE) is a rare genetic disorder causing neonatal epileptic encephalopathy.
  • PDE is associated with mutations in the ALDH7A1 gene, encoding the enzyme antiquitin.
  • Ophthalmic manifestations of PDE have not been previously documented.

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