Summary of phenotype data of microphthalmia, anophthalmia and coloboma (MAC) patients with molecular diagnostic testing
| Number of patients | Fisher’s exact test (p value) | |||
| Total n=45 | No primary findings n=30 | Solved n=15 | ||
| Gender | ||||
| Male | 16 | 10 | 6 | 0.75 |
| Female | 29 | 20 | 9 | |
| Laterality | ||||
| Bilateral | 30 | 20 | 10 | >0.99 |
| Unilateral | 15 | 10 | 5 | |
| MAC phenotype | ||||
| Microphthalmia | 16 | 5 | 10 | – |
| Anophthalmia | 2 | 0 | 2 | |
| Coloboma | 9 | 9 | 0 | |
| Mixed | 18 | 16 | 3 | |
| Ethnicity | ||||
| White (British) | 17 | 10 | 7 | – |
| Asian | 10 | 5 | 5 | |
| White (other background) | 6 | 5 | 1 | |
| Black (African) | 1 | 1 | 0 | |
| Unknown | 11 | 9 | 2 | |
| Additional ocular features | ||||
| Simplex | 27 | 19 | 8 | 0.54 |
| Complex | 18 | 11 | 7 | |
| Systemic involvement | ||||
| Non-syndromic | 29 | 21 | 8 | 0.33 |
| Syndromic | 16 | 9 | 7 | |