Evidence that a locus for familial high myopia maps to chromosome 18p

Terri L. Young, Shawn M. Ronan, Leslie A. Drahozal, Scott C. Wildenberg, Alison B. Alvear, William S. Oetting, Larry D. Atwood, Douglas J. Wilkin, Richard A. King

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213 Scopus citations


Myopia, or nearsightedness, is the most common human eye disorder. A genomewide screen was conducted to map the gene(s) associated with high, early-onset, autosomal dominant myopia. Eight families that each included two or more individuals with ≥-6.00 diopters (D) myopia, in two or more successive generations, were identified. Myopic individuals had no clinical evidence of connective-tissue abnormalities, and the average age at diagnosis of myopia was 6.8 years. The average spherical component refractive error for the affected individuals was -9.48 D. The families contained 82 individuals; of these, DNA was available for 71 (37 affected). Markers flanking or intragenic to the genes for Stickler syndrome types 1 and 2 (chromosomes 12q13.1-q13.3 and 6p21.3, respectively), Marfan syndrome (chromosome 15q21.1), and juvenile glaucoma (chromosome 1q21-q31) were also analyzed. No evidence of linkage was found for markers for the Stickler syndrome types 1 and 2, the Marfan syndrome, or the juvenile glaucoma loci. After a genomewide search, evidence of significant linkage was found on chromosome 18p. The maximum LOD score was 9.59, with marker D18S481, at a recombination fraction of .0010. Haplotype analysis further refined this myopia locus to a 7.6-cM interval between markers D18S59 and D18S1138 on 18p11.31.

Original languageEnglish (US)
Pages (from-to)109-119
Number of pages11
JournalAmerican Journal of Human Genetics
Issue number1
StatePublished - Jul 1998

Bibliographical note

Funding Information:
We extend many thanks to the members of the myopia families for their cooperation in this project. We would like to thank Dr. William Knobloch for his collection of patient resources, Dr. Irene Hussels Maumenee for her critical review and comments on the manuscript, and Ann Holleschau for her technical assistance. This research has been supported by grants from the Robert Wood Johnson Foundation and the Minnesota Medical Foundation (both to T.L.Y.) and by a Career Development Award from Research to Prevent Blindness (to T.L.Y.).


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