Ethnic and mouse strain differences in central corneal thickness and association with pigmentation phenotype
- PMID: 21853026
- PMCID: PMC3154201
- DOI: 10.1371/journal.pone.0022103
Ethnic and mouse strain differences in central corneal thickness and association with pigmentation phenotype
Abstract
The cornea is a transparent structure that permits the refraction of light into the eye. Evidence from a range of studies indicates that central corneal thickness (CCT) is strongly genetically determined. Support for a genetic component comes from data showing significant variation in CCT between different human ethnic groups. Interestingly, these studies also appear to show that skin pigmentation may influence CCT. To validate these observations, we undertook the first analysis of CCT in an oculocutaneous albinism (OCA) and Ugandan cohort, populations with distinct skin pigmentation phenotypes. There was a significant difference in the mean CCT of the OCA, Ugandan and Australian-Caucasian cohorts (Ugandan: 517.3±37 µm; Caucasian: 539.7±32.8 µm, OCA: 563.3±37.2 µm; p<0.001). A meta-analysis of 53 studies investigating the CCT of different ethnic groups was then performed and demonstrated that darker skin pigmentation is associated with a thinner CCT (p<0.001). To further verify these observations, we measured CCT in 13 different inbred mouse strains and found a significant difference between the albino and pigmented strains (p = 0.008). Specific mutations within the melanin synthesis pathway were then investigated in mice for an association with CCT. Significant differences between mutant and wild type strains were seen with the nonagouti (p<0.001), myosin VA (p<0.001), tyrosinase (p = 0.025) and tyrosinase related protein (p = 0.001) genes. These findings provide support for our hypothesis that pigmentation is associated with CCT and identifies pigment-related genes as candidates for developmental determination of a non-pigmented structure.
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References
-
- Gordon MO, Beiser JA, Brandt JD, Heuer DK, Higginbotham EJ, et al. The Ocular Hypertension Treatment Study: baseline factors that predict the onset of primary open-angle glaucoma. Arch Ophthalmol. 2002;120:714–720; discussion 829–730. - PubMed
-
- Miglior S, Pfeiffer N, Torri V, Zeyen T, Cunha-Vaz J, et al. Predictive factors for open-angle glaucoma among patients with ocular hypertension in the European Glaucoma Prevention Study. Ophthalmology. 2007;114:3–9. - PubMed
-
- Brandt JD, Casuso LA, Budenz DL. Markedly increased central corneal thickness: an unrecognized finding in congenital aniridia. Am J Ophthalmol. 2004;137:348–350. - PubMed
-
- Whitson JT, Liang C, Godfrey DG, Petroll WM, Cavanagh HD, et al. Central corneal thickness in patients with congenital aniridia. Eye Contact Lens. 2005;31:221–224. - PubMed
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