BACKGROUND: Nephropathic cystinosis is characterized by an accumulation of 
cystine crystals within most body tissues. Renal transplantation and oral 
cysteamine have improved the general prognosis of the disease, and ocular 
manifestations are now the most common complication. This long-term follow-up 
study describes the sequence of ocular manifestations in patients with 
nephropathic cystinosis treated with oral and topical cysteamine.
METHODS: Data were recorded for all patients with cystinosis examined between 
1980 and 2000. For each patient, photophobia and visual acuity were evaluated 
and slit-lamp and fundus examinations were performed. For some patients, an 
electroretinogram was also performed.
RESULTS: Twenty-nine patients were observed during this period. They received 
oral and topical cysteamine. Photophobia and loss of visual acuity generally 
began by 10 years of age but were severe only after 15 years of age. Peripheral 
corneal epithelial infiltration appeared in the first few years of life. 
Infiltration evolved toward the depth and center of the cornea during the second 
decade of life. Retinopathy was present in 51.7% of the patients, with 3 cases 
of maculopathy and 3 cases of flattening on electroretinogram.
CONCLUSIONS: Photophobia and corneal infiltration, although generally severe 
after 15 years of age, could be treated with topical cysteamine and corneal 
transplantation. Retinal infiltration, previously described as frequent and 
potentially blinding, is currently observed in only half of these patients, with 
mild visual impairment. This could be related to the treatment with oral 
cysteamine reaching the retinal vascularization.