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The French-Canadian Experience in a Genetically Homogeneous Population

Martin Richler, MD; Jean Milot, MD; Michael Quigley, MD; Sean O'Regan, MB

Arch Ophthalmol. 1991;109(3):359-362.

Abstract
• A large spectrum of ocular pathologic features have been described in infantile cystinosis. Reported symptoms may require corneal transplantation and therapeutic efforts to solubilize cystine crystals with hourly administration of cysteamine (mercaptamine) drops. French Canada has the highest incidence of cystinosis in the world. We studied 18 patients with cystinosis who appeared to have much milder ocular involvement than that in other reported series. No operative interventions were required. Relatively mild photophobia was the most common ocular manifestation of cystinosis.

Author Affiliations
From the Department of Ophthalmology (Drs Richler, Milot, and Quigley) and Nephrology Service (Dr O'Regan), Hôpital Sainte-Justine and University of Montreal (Quebec).

Footnotes
Accepted for publication November 2, 1990.

Reprint requests to Department of Ophthalmology, Hôpital Sainte-Justine, 3175 Cote Ste-Catherine, Montreal, Quebec, Canada H3T 1C5 (Dr Milot).

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