Dr. Anu F Anand, Dr. Anthrayos C V Kakkanatt, Monsy. Thomas Mathai, Dr. David Pudukadan
Blepharophimosis ptosis epicanthus inversus syndrome(BPES)/Kohn Romano syndrome is a rare developmental ocular disorder. It is an autosomal dominant disorder with severe bilateral ptosis, telecanthus, epicanthus inversus, and blepharophimosis. Categorized into two types.Type1- BPES with premature ovarian failure. Type 2 – BPES without ovarian failure.Mutations in the FOXL2 gene on chromosome 3q23 which encodes a transcription factor has been shown to cause BPES. An 8 yr old adopted girl with no pedigree available was brought to the OPD with congenital ptosis. She developed anasarca in the neonatal period and diagnosed to have congenital adrenal hypoplasia. She had visual acuity 6/6 both eyes, bilateral frontalis overaction, chin lift, telecanthus, broad flat nasal bridge, blepharophimosis, epicanthus inversus and severe bilateral ptosis with absent lid crease and levator function. Each patient with blepharophimosis shoulbe screened for hormonal deficiencies and ovarian abnormalities.