lacrimal puncta atresia

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.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

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

References
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