Ophthalmic manifestations in patients with Leigh syndrome, French Canadian type

ABSTRACT

Background: Leigh syndrome, French Canadian type is a rare neurodegenerative disease. To our knowledge, there have been no studies based on ocular findings published for this disease. The purpose of this study is to describe ophthalmic findings in these patients.

Patients: Six patients genetically identified as having the syndrome were included in this study.

Methods: Four patients had an ophthalmic examination with an ophthalmologist including evaluation of visual acuity, extraocular motility and lid position, orthoptic workup, evaluation of stereopsis, refraction, evaluation of pupils, color vision, slit-lamp biomicroscopy, measurement of intraocular pressure, and fundoscopy. Two patients had a chart review.

Results: Visual acuity ranged from 0.00 logmar to 1.55 logmar. Extraocular motility abnormalities and ptosis were noted in half of the patients. Strabismus was present in the entire cohort, and stereopsis was absent in half of these patients. Amblyopia was noted in 83% of individuals and suppression in 33%. Only one patient had nystagmus. Refraction varied throughout patients. It included severe hyperopia, myopia, astigmatism, and significant anisometropia. Pupils, anterior segment, fundus, and color vision were normal in all patients. Intraocular pressure was slightly elevated in one patient.

Conclusion: Patients with Leigh syndrome, French Canadian type display a variety of ophthalmic findings, and screening at a young age is recommended.

KEYWORDS:

• Ophthalmic manifestations
• ocular manifestations
• Leigh syndrome
• French Canadian type
• French Canadian
• Saguenay-Lac-Saint-Jean

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

Department of Surgery and Anesthesiology at the Centre Hospitalier Universitaire de Sherbrooke as well as the Department of Ophthalmology at the Centre Hospitalier Universitaire de Sherbrooke.