Ocular findings in a child with French-Canadian Leigh disease variant

Erica Doucet

Meeting:  2015 RANZCO


Date:      -

Session Title: Poster

Session Time:      -

Purpose : Leigh Syndrome is a neurodegenerative desorder presenting with a wide variety of central neurologic issues, peripheral nervous system involvement and/or non-neurologic systemic abnormalities. It affects 1/40 000 newborn infants worldwide and is associated with developmental delay and lactic acidosis. Various mutations cause this heterogenic disease. Many ophthalmological signs and symptoms have been noted to occur. †In the region of Canada known as Saguenay-Lac-Saint Jean, a Leigh syndrome variant has been identified and this population represents the largest known cohort of patients with a genetically homogeneous congenital lactic acidosis. A recessive mutation is responsible for the disease and occurs in 1/2178 births.

Method : We discuss the ocular findings found in a 22 month old child with French-canadian Leigh disease. This child was seen in a pediatric ophthalmology clinic setting and underwent a complete ocular evaluation as well as a general chart review.

Results : Visual acuity mesure by Teller card was considerably bellow the age expected value. Strabismus as well as prominent epicanthal folds were present. Finally, a strong hyperopic refractive error was measured. Systemically, this child was suffering from a neurosensitive deaphness, developmental and growth delay, hypotony, tremors and laryngomalacia

Conclusion : To our knowledge, these are the first published results of a complete ocular examination performed by an ophthalmologist in a child with French-canadian Leigh disease. The prevalence of this variant of the rare disease that is Leigh Syndrome being higher in this region, it is imperative that it is better understood.