title: Ocular manifestations of nephropathic cystinosis. The French-Canadian experience in a genetically homogeneous population.
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.
authors.affiliation: Department of Ophthalmology, Hôpital Saint-Justine, Montreal, Quebec, Canada.
authors.forename: M
authors.initials: M
authors.lastname: Richler
authors.forename: J
authors.initials: J
authors.lastname: Milot
authors.forename: M
authors.initials: M
authors.lastname: Quigley
authors.forename: S
authors.initials: S
authors.lastname: O'Regan
mesh_terms: D000293:Adolescent; D000328:Adult; D002170:Canada; D002648:Child; D002675:Child, Preschool; D003543:Cysteamine / Q000627:therapeutic use; D003554:Cystinosis / Q000150:complications* / Q000235:genetics; D005128:Eye Diseases / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D007674:Kidney Diseases / Q000150:complications* / Q000235:genetics / Q000601:surgery; D016030:Kidney Transplantation; D008027:Light / Q000009:adverse effects
chemical_list: D003543:Cysteamine