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

Autor: Anat Bahat Dinur, Ortal Buchbut, Libe Gradstein, Baker Elsana, Ofek Freund, Ohad S. Birk, Erez Tsumi
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Rambam Maimonides Medical Journal, Vol 15, Iss 1, p e0005 (2024)
Druh dokumentu: article
ISSN: 2076-9172
DOI: 10.5041/RMMJ.10519
Popis: Late-onset nasolacrimal duct obstruction (NLDO) as a result of inflammatory processes causing dacryo-stenosis 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.
Databáze: Directory of Open Access Journals
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