Open AccessBlepharophimosis syndrome: association with colobomatous microphthalmos
Author(s) -
Lee Lawrence R.,
Sullivan Timothy J.
Publication year - 1995
Publication title -
australian and new zealand journal of ophthalmology
Language(s) - English
Resource type - Journals
eISSN - 1440-1606
pISSN - 0814-9763
DOI - 10.1111/j.1442-9071.1995.tb00144.x
Subject(s) - blepharophimosis , microphthalmos , medicine , coloboma , abnormality , ophthalmology , ptosis , psychiatry
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.