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Ocular Complications of Infantile Nephropathic Cystinosis

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Anterior Segment (“Front of Eye”) Findings

Corneal changes are the most common, and most commonly symptomatic, ocular complication in cystinosis. There is evidence for crystal accumulation in all layers of the cornea, with cornea stroma involvement being the most significant examination finding. Corneal crystals are typically present in the corneal periphery by 16 months of age, and advance to saturate the cornea by early adolescence if left untreated.7 Although difficult to appreciate on slit-lamp examination, crystals can be

Posterior Segment (“Back of Eye”) Findings

Intracellular cystine crystals have been identified in nearly all ocular structures on postmortem examination, including the retina, choroid, and optic nerve.6 In an untreated or under-treated patient, the impairment of retinal function can result in a pigmentary retinopathy, appearing as a mottled pattern to the retinal pigment epithelium on fundus examination, and manifesting as decreased color and night vision, and significant visual field loss, typically in the midperiphery and may advance

Conclusions in Ocular Findings

Several points bear consideration and might guide future efforts:

  • (1)

    It is essential that patients with cystinosis receive regular eye examinations by ophthalmologists skilled in identifying ocular changes and guiding therapy. These skills are not difficult to learn, and online and/or printed materials can assist ophthalmologists who rarely care for these patients. Yearly eye examinations are typically advised, with more frequent examinations necessary for some patients. Although imaging techniques

Author Disclosures

The author declares no conflicts of interest, real or perceived.

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