Blepharophimosis syndrome: association with colobomatous microphthalmos.

Objective: To highlight the association of colobomatous microphthalmos with blepharophimosis syndrome.

Results: We present a case of blepharophimosis syndrome associated with bilateral optic disc, retinochoroidal and iris colobomas, and microphthalmos, in a Caucasian boy. Inheritance in this case was autosomal dominant from the maternal side.

Conclusions: Colobomatous microphthalmos is an infrequent ocular abnormality in the blepharophimosis syndrome. Ophthalmologists should be aware of this association.