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*