Description of X-Linked Megalocornea With Identification of the Gene Locus

David A. Mackey, Robert G. Buttery, Gordon M. Wise, Michael J. Denton

Research output: Contribution to journalArticlepeer-review

44 Citations (Scopus)


We studied the clinical appearance and inheritance in five families with X-linked megalocornea. Affected male subjects had corneal diameters between 13.0 and 16.5 mm. Arcus juvenilis, mosaic corneal dystrophy, and cataracts were found only in adult affected male subjects. No carrier female abnormality was identified. The gene locus for the X-linked form is in the region Xq12-q26. This is near the locus described for Aarskog (facial-digital-genital) syndrome, Xq12-13.

Original languageEnglish
Pages (from-to)829-833
Number of pages5
JournalArchives of Ophthalmology
Issue number6
Publication statusPublished - 1 Jan 1991
Externally publishedYes


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