Treatment of bilateral punctal stenosis and nasolacrimal duct obstruction in an 11-year-old case with dyskeratosis congenita

Abstract

The purpose of this study was to report the external dacryocystorhinostomy (ext-DCR) using silicone intubation in a child with dyskeratosis congenita (DC) who had presented by bilaterally acquired nasolacrimal duct obstruction (NLDO), punctal stenosis, and mucocutaneous changes. We report the 13-month results of an 11-year-old boy with DC who underwent bilateral ext-DCR with silicone stenting under general anesthesia. Ophthalmic examination revealed bilateral punctal stenosis and NLDO with normal fundus examination. He was referred to pediatrics and was diagnosed as DC, based on classic reticular skin pigmentation, nail dystrophy, and oral leukoplakia, without any other systemic involvement. Treatment consisted of bilateral ext-DCR using silicone stenting by 6 months. Management of surgery and post-operative 13-month follow up results was observed. DC is a rare heterogeneous multisystem disorder of telomere maintenance, which may present with ophthalmologic features. Although the lacrimal system abnormalities have been reported most frequently ocular findings in DC, this is the first case to present the management and long-term results of DCR using silicone intubation. This case aims to raise awareness of the various systemic and ocular manifestations and possible complications of DC and to present long-term results of ext-DC in a patient with DC.