Lacrimal Puncta Agenesis Clinical CharacteristicsOcular Features: Nasolacrimal duct obstruction may occur in 20% of infants. The blockage is usually located at the Valve of Hasner in the distal intranasal segment of the nasolacrimal drainage system. In the absence of other anatomic anomalies, the obstruction often spontaneously clears by one year of age. Recurrent conjunctivitis and epiphora are frequent occurrences. A dacryocystocele may develop and in the lacrimal sac area and purulent material can often be expressed by applying mild pressure. However, the literature contains scattered references to rare familial cases with recurrent dacryocystitis in which a dacryocystocele and lacrimal puncta agenesis are present. Systemic Features: Facial cellulitis and respiratory distress may be associated. GeneticsHomozygous mutations in the IGSF3 gene (1p13) have been reported in multiple male offspring of a consanguineous couple. The parents and an unaffected brother were heterozygous for the mutation. Pedigree: Autosomal recessiveTreatmentTreatment Options: Some patients can benefit from a dacryocystorhinostomy procedure with relief of the epiphora and chronic conjunctivitis. ReferencesArticle Title: Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction Foster J 2nd, Kapoor S, Diaz-Horta O, Singh A, Abad C, Rastogi A, Moharana R, Tekeli O, Walz K, Tekin M. Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction. Clin Genet. 2014 Dec;86(6):589-91. PubMed ID: 24372406 Congenital dacryocystocele: Is there a familial predisposition? Wang, J. C., Cunningham, M. J. Congenital dacryocystocele: Is there a familial predisposition? Int. J. Pediat. Otorhinolaryngol. 2011 Mar:75(3): 430-432, 2011. PubMed ID: 21185090 On a case of congenital atresia of the lacrimal ducts with familial characteristics LUMBROSO BD. [On a case of congenital atresia of the lacrimal ducts with familial characteristics]. Acta Genet Med Gemellol (Roma). 1960 Jul;9:290-5. Italian. PubMed ID: 14418873 Read more about Lacrimal Puncta Agenesis
Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction Foster J 2nd, Kapoor S, Diaz-Horta O, Singh A, Abad C, Rastogi A, Moharana R, Tekeli O, Walz K, Tekin M. Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction. Clin Genet. 2014 Dec;86(6):589-91. PubMed ID: 24372406
Congenital dacryocystocele: Is there a familial predisposition? Wang, J. C., Cunningham, M. J. Congenital dacryocystocele: Is there a familial predisposition? Int. J. Pediat. Otorhinolaryngol. 2011 Mar:75(3): 430-432, 2011. PubMed ID: 21185090
On a case of congenital atresia of the lacrimal ducts with familial characteristics LUMBROSO BD. [On a case of congenital atresia of the lacrimal ducts with familial characteristics]. Acta Genet Med Gemellol (Roma). 1960 Jul;9:290-5. Italian. PubMed ID: 14418873
