Kayser-Fleischer ring with keratoconus: a coincidence? A case report

Area of Science:

• Ophthalmology
• Neurology
• Genetics

Background:

• Hepatolenticular degeneration (Wilson disease) and keratoconus are rarely reported together.
• Wilson disease is a genetic disorder of copper metabolism.
• Keratoconus is a progressive thinning of the cornea.

Observation:

• A 19-year-old male presented with keratoconus and was found to have Kayser-Fleischer rings, indicative of Wilson disease.
• The patient was asymptomatic for systemic Wilson disease.
• Ocular examination revealed characteristic Kayser-Fleischer rings in the cornea.

Findings:

• The patient was diagnosed with asymptomatic Wilson disease and keratoconus.
• Over a 5-year follow-up, the patient adhered to a low-copper diet, copper-chelating medication, and RGP lenses.
• Systemic symptoms of Wilson disease did not manifest, and the Kayser-Fleischer rings faded, with corneal stabilization.

Implications:

• This case highlights the importance of ocular examination in diagnosing Wilson disease.
• Management strategies including diet and medication may stabilize co-occurring Wilson disease and keratoconus.
• Further research is needed to explore potential links between these conditions.