This site uses tracking information. Visit our privacy policy. Click to agree to this policy and not see this again.

Ophthalmology and Visual Sciences

Cystinosis

Cystinosis

Category(ies): Cornea
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.

Side viewrefractile crystal deposition throughout the corneal stroma in a patient with a confirmed CTNS mutation
Refractile crystal deposition throughout the corneal stroma in a patient with a confirmed CTNS mutation
Front view refractile crystal deposition throughout the corneal stroma in a patient with a confirmed CTNS mutation
Refractile crystal deposition throughout the corneal stroma in a patient with a confirmed CTNS mutation
Slit Lamp view refractile crystal deposition throughout the corneal stroma in a patient with a confirmed CTNS mutation
Slit Lamp of refractile crystal deposition throughout the corneal stroma in a patient with a confirmed CTNS mutation