Contributor: Christopher A Kirkpatrick, MD
Photographer: Stefani Karakas, CRA
Cystinosis is an autosomal recessive metabolic disorder caused by the CTNS gene that results in the accumulation of the amino acid cystine within lysosomes. In addition to the other systemic pathology, ocular findings include deposition of fine polychromatic cystine crystals in the conjunctiva, anterior corneal stroma (shown here) and trabecular meshwork. The crystals typically do not affect visual acuity, but can cause significant photophobia.
These photographs show diffuse, refractile crystal deposition throughout the corneal stroma in a patient with a confirmed CTNS mutation.
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Ophthalmic Atlas Images by EyeRounds.org, The University of Iowa are licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License.