Figure 2 of Mateo, Mol Vis 2012; 18:1301-1311.


Figure 2. MOTA phenotypic spectrum in Albertan First Nations pedigrees. The oculo-facial phenotypes observed are diverse, ranging from isolated ocular anomalies to broader characteristics including dimpled noses (white arrows) and aberrant hair wedges where hair extends across the forehead to reach the eyebrow (black arrows). As evident from the montage, the ocular malformations can be bilateral (A, B) or unilateral (C, D), and vary in terms of the degree of lid involvement from isolated fusion (D) to abortive cryptophthalmos (E). Associated features include corneopalpebral synechiae (E, F), corneal opacification (G), and vascularization (H).