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.
Lee
L R
LR
Oculoplastic Clinic, Royal Children's Hospital, Brisbane, Queensland.
Sullivan
T J
TJ
D002675:Child, Preschool; D002829:Choroid / Q000002:abnormalities*; D003103:Coloboma / Q000235:genetics* / Q000473:pathology; D005141:Eyelid Diseases / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D008297:Male; D008850:Microphthalmos / Q000235:genetics* / Q000473:pathology; D009898:Optic Disk / Q000002:abnormalities*; D011379:Prognosis; D012160:Retina / Q000002:abnormalities*; D013577:Syndrome; D014785:Vision, Ocular