Ocular manifestations of nephropathic cystinosis. The French-Canadian experience in a genetically homogeneous population
M. Richler, J. Milot, M. Quigley and S. O'Regan
Department of Ophthalmology, Hopital Saint-Justine, Montreal, Quebec, Canada.
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.
