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Abstract #98821 Published in IGR 22-4
Uveitis, glaucoma, and cataract with mevalonate kinase deficiency
Agarwal N; Kothari MJournal of AAPOS 2022; 26: 93-95
We report 7 years of follow-up data on ocular findings in a 2-month-old boy who presented with early-onset bilateral granulomatous panuveitis with subsequent development of secondary glaucoma and total cataract, along with multisystem involvement. He was diagnosed with mevalonate kinase deficiency (MKD), with a homozygous missense variant in exon-6 of the mevalonate kinase (MVK) gene on chromosome-12 that resulted in the substitution of aspartic acid for asparagine at codon 205 (p.Asn205Asp). Despite being managed with topical/systemic steroids and immunosuppression therapy with methotrexate and a short course of adalimumab, the patient continued to develop recurrent episodes of uveitis along with multisystem manifestations. The occurrence of early-onset uveitis is rare, as is the diagnosis of MKD.
Department of Pediatric Ophthalmology, Jyotirmay Eye Clinic for Children and Adult Squint and Ocular Motility Laboratory, Thane, Maharashtra, India. Electronic address: drnidhiagarwal1@gmail.com.
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