Uveitis, glaucoma, and cataract with mevalonate kinase deficiency

被引：4

作者：

Agarwal, Nidhi ^{[1
,2
]}

Kothari, Mihir ^{[1
,2
]}

机构：

[1] Jyotirmay Eye Clin Children & Adult Squint, Dept Pediat Ophthalmol, Thana, Maharashtra, India

[2] Ocular Motil Lab, Thana, Maharashtra, India

来源：

JOURNAL OF AAPOS | 2022年 / 26卷 / 02期

关键词：

D O I：

10.1016/j.jaapos.2021.11.009

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

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.

引用

页码：93 / 95

页数：4

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