Introduction: Mevalonate kinase deficiency (MKD) is a rare, inborn error of metabolism affecting cholesterol and non-sterol isoprenoid synthesis, caused by biallelic loss-of-function mutations in the mevalonate kinase gene (MVK). Ocular manifestations of MKD are very rare with few reported cases of cataract formation and retinal degeneration in pediatric populations. We report the first case of a young adult presenting with retinal vasculitis and cotton wool spots (CWS) found to be caused by MKD.

Case Presentation: A 24-year-old female with a history of recurrent febrile episodes, polyarthritis, and gastrointestinal disease presented with several months of photopsias and myodesopsias with a remote history of CWS. The initial exam was unremarkable and without ocular inflammation. Fluorescein and indocyanine green angiography revealed mild bilateral late-phase capillary leakage in the far periphery with a phlebitis predominant retinal vasculitis. Given her systemic conditions and lack of response to medications, genetic testing was performed, which revealed a heterozygous mutation of MVK.

Final Diagnosis: Mevalonate kinase deficiency (MKD)

Management: She is currently receiving anti-IL-1 therapy and close follow-up.

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