X-linked megalocornea. Ocular findings and linkage analysis

F M Meire; E M Bleeker-Wagemakers; M Oehler; A Gal; J W Delleman

doi:10.3109/13816819109029398

X-linked megalocornea. Ocular findings and linkage analysis

Ophthalmic Paediatr Genet. 1991 Sep;12(3):153-7. doi: 10.3109/13816819109029398.

Authors

F M Meire¹, E M Bleeker-Wagemakers, M Oehler, A Gal, J W Delleman

Affiliation

¹ University Clinic, Department of Ophthalmology, Ghent, Belgium.

PMID: 1754164
DOI: 10.3109/13816819109029398

Abstract

A family with X-linked megalocornea (XMC) is presented. The most typical ocular features of the disease (cornea globosa, arcus lipoides, mosaic dystrophy of the cornea, pigment dispersion, and cataract) are described and their diagnostic value is discussed by reviewing the literature. Linkage data suggest that the XMC locus maps in the region Xq13-q25, most probably in Xq21-q22.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Adult
Child
Corneal Dystrophies, Hereditary / diagnosis
Corneal Dystrophies, Hereditary / genetics*
Female
Genetic Linkage / genetics*
Humans
Male
Pedigree
X Chromosome*