Category: Clinical Science

At the end of the session, participants will be able to:

  1. Review normal ocular anatomy
  2. Become familiar with the diagnosis of anterior segment congenital malformations and their effects on
    ocular anatomy
  3. Describe relevant central nervous system associations with anterior segment dysgenesis

COI Disclosure:

I do not have a relationship with a for-profit and/or a not-for-profit organization to disclose.

Presenter

Dr. Stephanie Beldick is a neuropathology resident at Western University in London, Ontario. She completed her Master’s at the University of Toronto in neuroscience, followed by medical school and two years of postgraduate ophthalmology training in the United States prior to joining the field of neuropathology. Her research interests include basic science and clinical investigations of neurodevelopmental processes.

Stephanie R. Beldick1 and Qi Zhang1

 1Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, ON

Target Audience:

Pathologists
Residents
Medical Students

CanMEDS:

Medical Expert (the integrating role)
Communicator
Collaborator
Leader
Scholar

Eye’s the B’y: A case-based review of congenital ocular malformations

Abstract

Ophthalmic pathologies, whether encountered in perinatal and paediatric autopsy, in the “blind, painful eye” setting, or in adult autopsy, can demonstrate marked abnormalities. Many of the histopathological findings can be the downstream effects of chronic damage from ophthalmic diseases, manifestations of neurodegenerative disease, or manifestations of congenital anomalies. Exposure to ocular pathologies in neuropathology training is limited in Canada, though several neuropathologists take on this responsibility, and in some countries, it is considered within the neuropathology practice scope. A wide range of ophthalmic specimens can be encountered by neuropathologists, from corneas, lacrimal glands, and conjunctival lesions to cancers like retinoblastoma and optic nerve gliomas, as well as congenital malformations associated with central nervous system anomalies. To further explore the brain-eye connection in Canadian neuropathology, we present three types of anterior segment dysgenesis including trabeculodysgenesis, Peter’s anomaly, and primary congenital aphakia. We describe the natural history of these malformations and their resultant ocular pathologies, along with any associations that may exist with central nervous system diseases.