Molecular Vision: Corso-Díaz, Mol Vis 2012; 18:2770-2782. Table 1

Table 1. Demographics of patients with ASD, microphthalmia, and optic nerve malformation

Pathology	Gender				Ethnicity		PAX6
Pathology	Male		Female	Unknown	Caucasian	Unknown	Tested	Total
Aniridia	17	28		22	8	59	44	67
ASD
Axenfeld-Rieger syndrome	0	0		1	0	1	1	1
Coloboma/congenital cataract	0	1		0	1	0	1	1
Peters' anomaly	3	1		8	4	8	12	12
Rieger syndrome	1	1		3	2	3	5	5
Other
Microphthalmia	2	0		0	2	0	2	2
Optic nerve malformation	1	0		0	1	0	1	1
Control	0	0		376	376	0	N/A	376
Unaffected relatives	7	14		1	0	22	N/A	22

The demographic features of 89 patients with congenital ocular malformations, 376 controls and 22 unaffected relatives are shown. Numbers indicate the number of patients participating in this study. The majority of patients were tested for PAX6 mutations and chosen to participate in this study after they were found negative. Thirty-one probands with aniridia were negative for PAX6 after sequencing and 11 probands with aniridia were negative for PAX6 after chromosomal analysis. N/A, not applicable.