The association of HLA with young-onset keratoconus in Japan

Adachi, Wakako; Mitsuishi, Y.; Terai, Kazuto; Nakayama, Chisato; Hyakutake, Yoko; Yokoyama, Jun; Mochida, Chikako; Kinoshita, Shigeru

doi:10.1016/s0002-9394(01)01368-x

Cited by 25 publications

(10 citation statements)

References 3 publications

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“…Furthermore, complications from penetrating keratoplasty include deep corneal neovascularization, allograft rejection, trauma to anterior segment, infectious keratitis, epithelial defects, band keratopathy, wound leakage, retro-corneal membrane, cataract formation, secondary glaucoma and retinal detachment [37, 62, 110, 111], which too are important risk factors for graft rejection.…”

Section: Results With Penetrating Keratoplastymentioning

confidence: 99%

“…However, recent studies reported lower incidences of keratoconus with vernal keratoconjunctivitis in the pediatric population of 0.61%, as compared to previously documented [36]. Furthermore, Adachi et al [37] described HLA-A26, B40 and DR9 antigens to be more frequent in pediatric keratoconus populations compared to adults in a Japanese cohort. The HLA haplotype could serve as a familial marker for keratoconus and provide genetic inheritance explanations for the disease.…”

Section: Epidemiology and Prevalencementioning

confidence: 86%

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Pediatric keratoconus: a review of the literature

2017

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Purpose To describe the epidemiology and prevalence, rates of progression, difference between adult and pediatric populations, and therapeutic approaches to pediatric keratoconus from documented literature. Methods A literature search was done on PubMed using key words including pediatric keratoconus, children with keratoconus, adult keratoconus, penetrating keratoplasty, corneal cross-linking and intra-corneal ring segments. The literature was reviewed and reported to explore the key epidemiological differences between the pediatric and adult population with regards to presentation and treatment options. Results Pediatric keratoconus is more aggressive than adult keratoconus, which has been explained by structural differences in the cornea between both populations. High rates of progression were documented in pediatric populations. While corneal collagen cross-linking, intracorneal ring segments and penetrating keratoplasties have been used as therapies in the pediatric population, the literature overwhelmingly shows higher rates of failure and progression despite these measures as compared to adults. Conclusion Pediatric keratoconus is more aggressive than adult keratoconus, and current therapies used in adults may not be sufficient for the pediatric population.

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Section: Results With Penetrating Keratoplastymentioning

confidence: 99%

Section: Epidemiology and Prevalencementioning

confidence: 86%

Pediatric keratoconus: a review of the literature

2017

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“…In both Asian and Western studies, men have earlier onset and their conditions deteriorate faster. [60][61][62] Subsets of keratoconus may be sex-linked because androgen-dependent keratoconus mouse models exist. 63 However, human literature does not yet have similar data.…”

Section: Geographymentioning

confidence: 99%

Review

Kok

Tan

Loon

2012

Cornea

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Keratoconus is an ectatic corneal disorder for which exciting therapeutic and diagnostic technologies are emerging. However, its pathogenesis is still heterogeneous and elusive. We researched overlooked Asian keratoconus data by literature review of databases (PubMed, MEDLINE, Ovid, Google Scholar, Cornea, and Cochrane) using key words "keratoconus, Asia, epidemiology, treatment, risk factors, genes" and names of Asian countries. Articles and their references were analyzed. Studies showed that keratoconus may be more prevalent, have earlier onset, and have greater disease progression in certain Asian and non-Asian ethnicities, particularly Indians, Pakistanis, Middle Easterners, and Polynesians, compared with white populations. Epidemiological risk factors include ethnicity, age (younger than 30 years), gender (male), positive family history, and eye rubbing. Genetic and disease risk factors include atopy, vernal keratoconjunctivitis, Down syndrome, pellucid marginal corneal degeneration, VSX1 (visual system homeobox 1) gene, and Leber congenital amaurosis. Differentiation of heterogeneous keratoconus subsets with detailed genotype-phenotype characterization may advance understanding. Comprehensive multiethnic population studies with valid large-scale data are needed. New effective treatments (deep anterior lamellar keratoplasty, intrastromal corneal ring segments, and corneal collagen cross-linking with riboflavin) are succeeding previous treatments.

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“…28 HLA-A26, B40, and DR9 have been associated with early-onset keratoconus in Japan. 29 Various loci have been linked with keratoconus susceptibility, including those on chromosomes 2, 3, 5, 6, 9, 13, 15, 16, 17, and 20. 30,31 Genome-wide association studies have identified 2q21.3 as a highly significant susceptibility region for keratoconus.…”

mentioning

confidence: 99%