Figure 1.
X-Linked Megalocornea Families and Phenotype
(A) Pedigree structure of six families with X-linked megalocornea (MGC1); family 7 has been described elsewhere (pedigree 1 in Mackey et al.2). Black boxes denote affected males; dotted circles, carrier females; clear boxes and circles, unaffected individuals.
(B) Right eye of individual II:3 of family 1 showing a greater than average cornea diameter and a white ring at the limbus (arcus juvenilis, arrow). The superior gap in the iris is from cataract surgery (surgical iridectomy, arrowhead).
(C) Mosaic corneal degeneration of the central corneal stroma (arrowhead) of individual II:1 of family 1.
(D) Axial ultrasound image performed through closed eyelid of the left eye of individual II:2 in family 3 showing a greatly enlarged anterior segment (A), whereas the posterior segment (P) is relatively normal; L is used as an abbreviation of lens.
(E) Optical coherence tomography image of the anterior segment of individual II:1 in family 1 showing thinning of the entire cornea, limbus to limbus, and a deep anterior chamber. Measurements taken for central corneal thickness, anterior chamber depth, and anterior chamber diameter are included.