Maculopathy is reported for the first time in cystinosis. Two siblings were found to show a conspicuous yellow mottling of the macular region by ophthalmoscopy. In addition, there were widespread pigmentary changes in the fundi which have been previously described. Clinically, both patients also had crystalline deposits in the conjunctiva, cornea, and iris. Histopathologic and ultrastructural examination of both eyes from one patient showed degeneration and loss of the retinal pigment epithelial cells. Intracellular crystals were found in the keratocytes, iris epithelium, pigmented and nonpigmented epithelium of the ciliary body, choroid, and retinal pigment epithelium.
Sanderson PO, Kuwabara T, Stark WJ, Wong VG, Collins EM. CystinosisA Clinical, Histopathologic, and Ultrastructural Study. Arch Ophthalmol. 1974;91(4):270-274. doi:10.1001/archopht.1974.03900060280006