Ocular manifestations of intermediate cystinosis: To treat or not to treat?

Abstract

Purpose: To report a case of intermediate cystinosis with an atypical presentation in which a delayed non-treatment decision has been proved right over a large period of time.

Methods: This is a unique case report of a patient who underwent full ophthalmologic evaluations including anterior chamber optical coherence tomography on a regular basis during a 7-year follow-up period.

Results: A 30-year-old woman with photophobia was being studied by the Department of Nephrology with a suspicion of Alport syndrome. Slit-lamp examination showed iridescent deposits throughout the corneal anterior stroma and the inferior tarsal conjunctiva bilaterally. Anterior chamber optical coherence tomography showed stromal hyperreflectivity. CTNS gene was found to be positive for c.416C>T (Ser139Phe) mutation. The patient was offered oral and topical cysteamine which was refused. After a period of 5 years of follow-up, general health status remained stable, corneal disease showed no progression and photophobia complaints diminished. However, the patient was advised to start systemic and topical cysteamine because of the unknown development of the disease.

Conclusion: In this reported case, a delayed non-treatment decision has been proved right contrary to published evidence of active treatment of photophobia. The decision whether to treat or not to treat corneal involvement of the disease is not straightforward. Besides biomicroscopic evaluations, patients' complaints and expectations should be taken into account.

Keywords: Intermediate cystinosis; anterior chamber optical coherence tomography; cornea; cysteamine; cystine crystals.