A rare association of blepharophimosis–ptosis–epicanthus inversus case with congenital nasolacrimal duct obstruction

摘要

Purpose: The aim of reporting this case is to describe a rare combination of blepharophimosis–ptosis–epicanthus inversus syndrome with congenital nasolacrimal duct obstruction. A variety of lacrimal anomalies have been seen in blepharophimosis–ptosis–epicanthus inversus syndrome but the occurrence of nasolacrimal duct obstruction is rare. Method: The blepharophimosis–ptosis–epicanthus inversus syndrome is an autosomal dominant rare genetic defect with clinical manifestation of dysplasia of the eyelids, palpebral fissures, flat nasal bridge, and ptosis. A 20-month-old boy was referred with the complaints of watering and discharge from his right eyes since birth. On examination, the child had all the features of blepharophimosis–ptosis–epicanthus inversus syndrome with right congenital nasolacrimal duct obstruction in line with the published reports. Result: On endoscopic probing and irrigation, the probe could not be visualized into the inferior meatus. On dacryoendoscopy, the membranous part of the nasolacrimal duct was found to be completely obliterated with no light transmission into the nose indicating a malformed nasolacrimal duct. The child was managed by endoscopic dacryocystorhinostomy. We could find only one case report published so far on the combination of congenital nasolacrimal duct obstruction with blepharophimosis–ptosis–epicanthus inversus syndrome. This study adds one more case of blepharophimosis–ptosis–epicanthus inversus syndrome with congenital nasolacrimal duct obstruction and adjuvant use of dacryoendoscopy.