Lacrimal Puncta Agenesis

Clinical Characteristics
Ocular 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. 

Genetics

Homozygous 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.

Treatment
Treatment Options: 

Some patients can benefit from a dacryocystorhinostomy procedure with relief of the epiphora and chronic conjunctivitis. 

References
Article Title: 

References

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.

PubMedID: 24372406

Wang, J. C., Cunningham, M. J. Congenital dacryocystocele: Is there a familial predisposition? Int. J. Pediat. Otorhinolaryngol. 2011 Mar:75(3): 430-432, 2011.

PubMedID: 21185090

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.

PubMedID: 14418873