Familial Occurrence of Isolated Late-onset Nasolacrimal Duct Obstruction in Two Unrelated Families

Anat Bahat Dinur, Ortal Buchbut, Libe Gradstein, Baker Elsana, Ofek Freund, Ohad S. Birk, Erez Tsumi

Research output: Contribution to journalArticlepeer-review

Abstract

Late-onset nasolacrimal duct obstruction (NLDO) as a result of inflammatory processes causing dacryostenosis is a common entity affecting mostly women. While a few mechanisms have been suggested as contributors to the expression of NLDO, the trigger for the inflammation remains mostly unknown. Familial predilection for this condition has not been previously reported. We present two families with multiple individuals affected with congenital or late-onset NLDO, describe the signs and symptoms of the affected individuals, and explore their medical history for any contributing factors. Family A, spanning four generations, included 7 female patients affected by late-onset NLDO. Family B, spanning two generations, included 8 individuals affected by either congenital or late-onset NLDO. This case series suggests a familial predisposition to NLDO, apparently with an autosomal dominant inheritance pattern. Further studies are needed to elucidate the molecular basis of this genetic predisposition.

Original languageEnglish
Article numbere0005
JournalRambam Maimonides Medical Journal
Volume15
Issue number1
DOIs
StatePublished - 1 Jan 2024

Keywords

  • Endo-DCR
  • epiphora
  • nasolacrimal duct obstruction
  • oculoplastic

ASJC Scopus subject areas

  • General Medicine

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