Family aggregation of high myopia: estimation of the sibling recurrence risk ratio

Farbrother, Jane Elizabeth, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and Guggenheim, Jeremy Andrew ORCID: https://orcid.org/0000-0001-5164-340X 2004. Family aggregation of high myopia: estimation of the sibling recurrence risk ratio. Investigative Ophthalmology and Visual Science 45 (9) , pp. 2873-2878. 10.1167/iovs.03-1155

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Abstract

PURPOSE. To estimate the sibling recurrence risk (KS) and the sibling recurrence risk ratio ({lambda}S) for high myopia in a cohort in the United Kingdom. METHOD. The recurrence risks for myopia and high myopia were estimated in the siblings of 296 randomly selected high myopes ascertained from an optometric practice population. A model using an age of onset of spectacle wear for myopia of 9.1 ± 0.7 years or younger was developed as a surrogate for high myopia. The influence of parental myopia on the sibling recurrence risk for high myopia was also evaluated. RESULTS. KS was estimated (95% confidence limits) to be 10.0% (5.9, 14.8) and {lambda}S to be 4.9 (2.8, 7.6). High myopes without myopic parents were surprisingly common (~40%) and were less likely to have highly myopic siblings (KS ~6%) than those with at least one myopic parent (KS ~14%). CONCLUSIONS. The sibling recurrence risk ratio reported herein ({lambda}S ~ 4.9) implies that the high penetrance autosomal dominant loci for high myopia identified to date account for only a minority of cases of high myopia in the United Kingdom. Furthermore, high-penetrance autosomal dominant inheritance or even high-penetrance recessive inheritance, per se, cannot account for most cases of high myopia. Instead, it may be necessary to consider high myopia as a "complex disease" resulting from the influence of either alleles of reduced penetrance ("susceptibility genes"), environmental factors, or both.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine Optometry and Vision Sciences MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Neuroscience and Mental Health Research Institute (NMHRI)
Subjects:	R Medicine > RE Ophthalmology
Additional Information:	Confirmation received by publisher on 21 February 2014 that publisher's pdf can be self-archived 6 months after publication.
Publisher:	Association for Research in Vision and Ophthalmology
ISSN:	0146-0404
Date of First Compliant Deposit:	30 March 2016
Last Modified:	11 May 2023 05:55
URI:	https://orca.cardiff.ac.uk/id/eprint/837

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