Description of X-linked megalocornea with identification of the gene locus
D. A. Mackey, R. G. Buttery, G. M. Wise and M. J. Denton
Royal Victorian Eye and Ear Hospital, Melbourne, Australia.
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.
