Table 1
Details of families with more than one affected individual
| No | Sex | Phenotype of proband | Other affected family member | Phenotype of other affected | Likely mechanism of inheritance |
|---|---|---|---|---|---|
| *Consanguineous parents. | |||||
| 1 | M | Coloboma and microcornea | Sister, mother and 5 of mothers siblings | All had coloboma. Some also had microcornea and cataract | Autosomal dominant* |
| 2 | M | Bilateral iris and retinal colobomata and microcornea | Father | Unilateral disc coloboma | Autosomal dominant |
| 3 | M | Colobomatous microphthalmos/coloboma with microcornea | Mother | Unilateral retinal coloboma | Autosomal dominant |
| 4 | F | Bilateral colobomatous microphthalmos | Paternal uncle | Not examined | Recessive* |
| 5 | M | Coloboma and microcornea | Sister | Coloboma and microcornea | Recessive |
| 6 | F | Coloboma R | Sister | R colobomatous microphthalmos | Recessive |
| Severe microphthalmos L | L severe microphthalmos | ||||
| 7 | M | Bilateral colobomatous microphthalmos | Sister (deceased) | Died at 2 days of age so not examined | Recessive |
| 8 | M | Bilateral colobomata or retina and left disc | Father | Isolated retinal coloboma in right eye and left microcornea and dense cataract | Dominant* |
| 9 | M | Bilateral coloboma with microphthalmos | Brother | Bilateral coloboma with microphthalmos | Recessive |
| 10 | F | Bilateral colobomata and microcornea | Father, brother (deceased) | Isolated retinal coloboma in right eye, left microcornea and dense cataract | Recessive* |
| 11 | M | Bilateral coloboma and microphthalmos and minor lens opacities | Mother | Mother had unilateral coloboma of the iris, microcornea and mature cataract | Recessive* |
| Maternal uncle | Uncle not examined but blind and appearance said to resemble proband | ||||
| 12 | M | Bilateral colobomata of iris and retina | Mother | Unilateral coloboma of retina and disc | Dominant* |
