Table 2 of Reis, Mol Vis 2010; 16:768-773.

Table 2. Clinical findings in patients with the recurrent c.70del20 mutation in SOX2.

Reported case 1 2 3 (sibling) 4 5 6 7 8 9 10 11
Right Eye AN NOR NOR MI AN AN AN MI AN AN MI, ONH
Left Eye AN AN NOR AN ASD, CA, COL, GL AN AN MI AN AN NOR
Other Anomalies Yes Yes Yes Yes Yes No Yes Yes Yes Yes Yes
Reference [17] [15] [15] [12] [10] [10] [3] [11] [11] [11] This study

The reported cases are numbered based upon date of publication. In the table AN indicates Anophthalmia; MI indicates Microphthalmia; ASD indicates Anterior segment dysgenesis; CA indicates Cataract; COL indicates Coloboma; GL indicates Glaucoma; NOR indicates Normal; and ONH indicates Optic nerve hypoplasia.

Reis, Mol Vis 2010; 16:768-773. http://www.molvis.org/molvis/v16/a86

©2010 Molecular Vision http://www.molvis.org/molvis/

ISSN 1090-0535