[Ocular manifestations in a case of infantile cystinosis]

A case of infantile cystinosis was reported. The diagnosis of cystinosis was made by the renal Fanconi syndrome and the ocular findings. The patient showed typical corneal and fundus changes associated with cystinosis. Corneal crystals and fundus pigmentary change were found early in life. The deposition of corneal crystals increased in the course of the disease, especially in the nasal and the temporal sides close to the limbus. By specular microscopy, the corneal crystals were needle-shaped and were larger and more numerous in the superficial layer of the stroma. The same shape of crystals ere found in the corneal endothelium, and the size of endothelial cells was markedly increased. There were also small crystals on the surface of the iris. The entire fundus showed a mottled appearance characterized by mixture of fine granular pigmentation and depigmentation associated with patchy depigmentation in the periphery. On the anterior surface of the retina, a glistening crystal appeared. As the crystal deposition in ocular tissues increases, even after successful peritoneal dialysis, eventual impairment of visual function may be expected.