Abstract
Vogt-Koyanagi-Harada (VKH) disease is a systemic autoimmune disorder against melanocytes. Recent studies have identified multiple genetic factors that might be associated with the pathogenesis of VKH disease. We performed an electronic database search of PubMed, MEDLINE, and EMBASE, and all relevant papers published up to 13 June 2014 were reviewed. A total of 1,031 publications including articles relevant to the genetics of VKH disease and the references of these articles were reviewed. The review identified a number of genetic factors which might be involved in the pathogenesis of VKH disease, some of which may alter the clinical course of VKH disease. Genes which might be involved in the pathogenesis of VKH disease included genes expressing HLA, complement factor H, interleukins, cytotoxic T-lymphocyte antigen 4 (CTLA-4), killer cell immunoglobulin-like receptors (KIR), programmed cell death 1 (PDCD1), protein tyrosine phosphatase non-receptor 22 (PTPN22), osteopontin, tumor necrosis factor alpha-induced protein 3 (TNFAIP3), macrophage migration inhibitory factor (MIF), and other immune response genes. Further studies to explore the correlation among different genotypes and phenotypes of VKH disease will be useful to shed light on the pathogenesis of uveitis in VKH disease and may facilitate the development of new treatment modalities of uveitis in VKH disease.
Highlights
Vogt-Koyanagi-Harada (VKH) disease is a systemic autoimmune disorder against melanocytes and affects the eyes, skin, ears, and meninges [1,2,3,4]
This review aims to provide an overview on the role of genetics in the development of VKH disease and the clinical importance and implications of genetics in VKH disease
A study by Horie et al has shown that NLRP1 gene polymorphisms related to vitiligo were not associated with the risks or clinical manifestations of VKH disease, and this suggests that the genetic and immune factors associated with VKH disease are likely to be distinct from generalized vitiligo [142]
Summary
Vogt-Koyanagi-Harada (VKH) disease is a systemic autoimmune disorder against melanocytes and affects the eyes, skin, ears, and meninges [1,2,3,4]. VKH disease usually occurs more frequently in females with a female-to-male ratio of approximately 2:1 and is one of the top three leading causes of uveitis in China [4,5,6]. It is characterized by bilateral granulomatous uveitis and can be classified into four stages: prodromal, uveitic, convalescence, and chronic recurrent [7]. In the prodromal and uveitic phases, there are neurological and auditory manifestations, and integumentary findings usually appear in the convalescent and chronic recurrent phases of the disease [2]. Corticosteroid treatment should be tapered off slowly and maintained for at least 6 months as early withdrawal of oral corticosteroid has been found to be a significant risk factor for recurrence of VKH disease and might lead to worse visual outcome [13]
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