Table 1 of White, Mol Vis 2008; 14:2458-2465.
Table 1. Subject demographics and clinical descriptions.
| Subject ID | Age at ascertainment | Gender |
Race |
Ocular phenotype |
Systemic findings |
Family history |
|---|---|---|---|---|---|---|
| 1 | 3yrs 2 months | M | Caucasian | Bilateral microphthalmia | Cleft lip and palate Developmental delay | Adopted |
| 2 | 3yrs | M | Caucasian | Anophthalmia/Microphthalmia | None | Brother with A/M |
| 3 | 7 months | F | Caucasian | Unilateral microphthalmia | None | None |
| 4 | 11 days | F | Caucasian | Bilateral microphthalmia | 46, XX, der
(4) t (2,4) (q31.1;q33) Choanal atresia, congenital heart disease, lung hypoplasia, and developmental delay. |
None |
| 5 | 28 years 1 months | M | Caucasian | Unilateral microphthalmia | None | None |
| 6 | 7 months | M | African American | Bilateral microphthalmia | None | None |
| 7 | 5 years 6 months | F | Caucasian | Bilateral microphthalmia | None | None |
| 8 | 1 year 4 months | M | Caucasian | Microphthalmia OS | None | None |
| 9 | 6 years 5 months | M | Caucasian | Microphthalmia OD | None | None |
| 10 | 1 year 7 months | F | Caucasian | Microphthalmia OS | None | None |
| 11 | 6 years 9 months | F | Caucasian | Bilateral anophthalmia | Duplicated kidney collecting system | None |
| 12 | 3 years 5 months | M | Caucasian | Bilateral microphthalmia | Cleft lip and palate | Adopted |
| 13 | 6 years 3 months | M | Caucasian | Bilateral microphthalmia | Scimitar
syndrome (anomalous pulmonary venous system) |
None |
| 14 | 15 years 1 months | F | Asian | Bilateral anophthalmia | Ventricular-septal defect. Fused tooth. | None |
| 15 | 2 years 6 months | F | Caucasian | Bilateral microphthalmia | Hypotonia, tremors, lax ligaments | Mother with polar cataracts |
| 16 | 4 months | F | Hispanic | Microphthalmia OD Anophthalmia OS | None | None |
| 17 | 2 years | M | Caucasian | Bilateral anophthalmia | None | None |
| 18 | 4 years 2 months | M | Caucasian | Bilateral anophthalmia | None | None |