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Blepharophimosis syndrome: association with colobomatous microphthalmos
1Oculoplastic Clinic, Royal Children's Hospital, Brisbane, Queensland.
Abstract
Objective:
To highlight the association of colobomatous microphthalmos with blepharophimosis syndrome.
Result:
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.
Conclusion:
Colobomatous microphthalmos is an infrequent ocular abnormality in the blepharophimosis syndrome. Ophthalmologists should be aware of this association.