Heritability of Corneal Curvature and Astigmatism

Cagigrigoriu, Andrea; Gregori, Darío; Cortassa, Fabrizia; Catena, Francesca; Marra, Antonella

doi:10.1097/ico.0b013e318094ffed

Cited by 11 publications

(1 citation statement)

References 15 publications

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“…Studies have reported a higher risk of developing astigmatism in individuals whose sibling or parents have astigmatism [11]. Evidence from twin studies suggests a genetic etiology in astigmatism development, with the estimated heritability ranging from 30% to 60% [19], [20], [21], [22], [23]. For instance, Hammond and colleagues [21] investigated the inheritance of astigmatism for 226 monzygotic (MZ) and 280 dizygotic (DZ) twins in the United Kingdom and found genetic effects accounted for 42% to 61% of the variation in corneal astigmatism.…”

Section: Introductionmentioning

confidence: 99%

Genome-Wide Meta-Analysis of Five Asian Cohorts Identifies PDGFRA as a Susceptibility Locus for Corneal Astigmatism

et al. 2011

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Corneal astigmatism refers to refractive abnormalities and irregularities in the curvature of the cornea, and this interferes with light being accurately focused at a single point in the eye. This ametropic condition is highly prevalent, influences visual acuity, and is a highly heritable trait. There is currently a paucity of research in the genetic etiology of corneal astigmatism. Here we report the results from five genome-wide association studies of corneal astigmatism across three Asian populations, with an initial discovery set of 4,254 Chinese and Malay individuals consisting of 2,249 cases and 2,005 controls. Replication was obtained from three surveys comprising of 2,139 Indians, an additional 929 Chinese children, and an independent 397 Chinese family trios. Variants in PDGFRA on chromosome 4q12 (lead SNP: rs7677751, allelic odds ratio = 1.26 (95% CI: 1.16–1.36), P meta = 7.87×10−9) were identified to be significantly associated with corneal astigmatism, exhibiting consistent effect sizes across all five cohorts. This highlights the potential role of variants in PDGFRA in the genetic etiology of corneal astigmatism across diverse Asian populations.

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Section: Introductionmentioning

confidence: 99%

Genome-Wide Meta-Analysis of Five Asian Cohorts Identifies PDGFRA as a Susceptibility Locus for Corneal Astigmatism

et al. 2011

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Association of Maternal and Paternal Astigmatism With Child Astigmatism in the Hong Kong Children Eye Study

et al. 2022

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ImportanceParental astigmatism is a factor associated with risk for development of child astigmatism; however, the magnitude of the association has not been determined.ObjectiveTo determine the association between parental and child astigmatism.Design, Setting, and ParticipantsThis population-based, cross-sectional study included participants from familial trios, each comprising a child aged 6 to 8 years and both parents, recruited from the Hong Kong Children Eye Study. No restriction criteria were set on the children in terms of refractive status. Data were analyzed from February to June 2022.ExposuresCycloplegic autorefraction and autokeratometry were conducted on the children, whereas noncycloplegic autorefraction and autokeratometry were conducted on their parents. The children were categorized into 6 groups on the basis of the severity of astigmatism of both parents. Information on parental education, family income, and children’s outdoor and near work time were obtained by questionnaires.Main Outcomes and MeasuresThe primary outcome was the odds of child astigmatism among the 6 categories of children. Associations of factors with child astigmatism were evaluated by logistic regression analyses.ResultsA total of 17 124 participants from 5708 trios (2964 boys and 2754 girls) at a mean (SD) age of 7.32 (0.87) years, and 11 416 parents were examined. Astigmatism of 1.0 D or greater in both parents was associated with greater odds of refractive astigmatism (RA) (odds ratio [OR], 1.62; 95% CI, 1.15-2.26) and corneal astigmatism (CA) (OR, 1.94; 95% CI, 1.50-2.50) in the child. The respective ORs increased to 3.10 (95% CI, 1.34-7.21) and 4.31 (95% CI, 1.76-10.55) when both parents had astigmatism 2.0 D or greater. Higher parental astigmatism conferred higher risks for both RA and CA in children (P for trend &lt;.001). Parental astigmatism was significantly associated with greater odds of corresponding child astigmatism (maternal RA: OR, 0.76; 95% CI, 0.68-0.84; paternal RA: OR, 0.82; 95% CI, 0.74-0.91; maternal CA: OR, 1.70; 95% CI, 1.51-1.93; paternal CA: OR, 1.33; 95% CI, 1.19-1.49).Conclusions and RelevanceThe findings of this cross-sectional study suggest that parental astigmatism may confer an independent and dose-dependent association with child astigmatism. Children with parents with astigmatism should have early eye examinations for timely detection of astigmatism to facilitate age-appropriate vision correction and visual development.

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Videokeratoscopic indices in relation to epidemiological exposure to keratoconus

Mato

Lema

Díez-Feijóo

2010

Graefes Arch Clin Exp Ophthalmol

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Heritability of Corneal Curvature and Astigmatism

Abstract: The application of a variance component model to videokeratographic child-parent comparisons suggests that the genetic contribution to corneal shape affects corneal curvature rather than corneal astigmatism.

Cited by 11 publications

References 15 publications

Genome-Wide Meta-Analysis of Five Asian Cohorts Identifies PDGFRA as a Susceptibility Locus for Corneal Astigmatism

Genome-Wide Meta-Analysis of Five Asian Cohorts Identifies PDGFRA as a Susceptibility Locus for Corneal Astigmatism

Association of Maternal and Paternal Astigmatism With Child Astigmatism in the Hong Kong Children Eye Study

Videokeratoscopic indices in relation to epidemiological exposure to keratoconus

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