Table 1 of White, Mol Vis 2008; 14:2458-2465.
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 |