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  • Title: Blepharophimosis syndrome: association with colobomatous microphthalmos.
    Author: Lee LR, Sullivan TJ.
    Journal: Aust N Z J Ophthalmol; 1995 May; 23(2):145-7. PubMed ID: 7546691.
    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.
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