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Updated: Oct 3, 2025
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Published on: February 15, 2022
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Uveitis, glaucoma, and cataract with mevalonate kinase deficiency
Nidhi Agarwal1, Mihir Kothari1
1Department of Pediatric Ophthalmology, Jyotirmay Eye Clinic for Children and Adult Squint and Ocular Motility Laboratory, Thane, Maharashtra, India.
Summary
This study details a rare case of early-onset uveitis in a boy diagnosed with mevalonate kinase deficiency (MKD). Seven years of follow-up reveal persistent ocular and systemic issues despite aggressive treatment.
Area of Science:
- Ophthalmology
- Genetics
- Immunology
Background:
- Mevalonate kinase deficiency (MKD) is a rare autoinflammatory disorder.
- Early-onset panuveitis is an uncommon ocular manifestation.
- Multisystem involvement is characteristic of severe MKD.
Observation:
- A 2-month-old boy presented with bilateral granulomatous panuveitis, secondary glaucoma, and cataract.
- The patient had a homozygous missense variant (p.Asn205Asp) in the MVK gene.
- Recurrent uveitis and systemic symptoms persisted despite treatment with steroids, methotrexate, and adalimumab.
Findings:
- Seven years of follow-up data were collected.
- The patient exhibited persistent ocular inflammation and multisystemic manifestations of MKD.
- The homozygous MVK gene variant was confirmed as the cause.
Implications:
- This case highlights the challenges in managing early-onset uveitis associated with MKD.
- Understanding the long-term ocular and systemic progression in MKD is crucial for patient care.
- Further research into targeted therapies for MKD-related uveitis may be warranted.
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