A Case of Ectrodactyly-ectodermal Dysplasia-cleft Syndrome with Bilateral Epiphora.

Lee, Sang Min; Park, Jong Seo; Lew, Helen

doi:2016.57.12.1953

J Korean Ophthalmol Soc > Volume 57(12); 2016 > Article

Case Report

Journal of the Korean Ophthalmological Society 2016;57(12):1953-1957.
DOI: https://doi.org/10.3341/jkos.2016.57.12.1953 Published online December 15, 2016.

A Case of Ectrodactyly-ectodermal Dysplasia-cleft Syndrome with Bilateral Epiphora.

Sang Min Lee, Jong Seo Park, Helen Lew

Department of Ophthalmology, CHA Bundang Medical Center, CHA University, Seongnam, Korea. eye@cha.ac.kr

양안 눈물흘림을 주소로 내원한 손발가락결손증-외배엽형성이상-구순구개열 증후군 1예

이상민⋅박종서⋅유혜린

차의과학대학교 분당차병원 안과학교실

Abstract

PURPOSE
In the present study, a case of recurrent nasolacrimal duct obstruction as ectrodactyly-ectodermal dysplasia-cleft syndrome is reported. CASE SUMMARY: An 18-year-old male complained of epiphora in both eyes. By the age of 1, he was diagnosed with nasolacrimal duct obstruction and received left side dacryocystotomy, both sides silicone tube insertion and, right side endoscopic dacryocystorhinostomy. The general findings showed microdontia and, bilateral ectrodactyly. An irrigation test showed ‘regurgitation without pus’ and Jones test showed ‘negative’ in both sides. Complete obstruction was observed on dacryocystography and the patient underwent endoscopic conjunctivodacryocystorhinostomy with Jones tube at right side and endoscopic dacryocystorhinostomy at left side. The chromosome test showed normal findings. CONCLUSIONS: Nasolacrimal duct obstruction in ectrodactyly-ectodermal dysplasia-cleft syndrome is usually caused by dysplasia of the nasolacrimal duct and accompanied by dysplasia of lacrimal punctum and canaliculus. Providing proper care for nasolacrimal duct obstruction in ectrodactyly-ectodermal dysplasia-cleft syndrome is important. Furthermore, the high failure rate should be considered.

Key Words: Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC) syndrome;Epiphora;Nasolacrimal duct obstruction