Lacrimal outflow dysgenesis

Unilateral lacrimal fistula in a patient with uterus didelphys and renal agenesis

“…The most common concurrent abnormalities are reported to be associated with punctum and canaliculi [1,2]. However, recently there are reports on accompanying systemic development abnormalities such as preauricular fistulas [3], thalassemia [2,3], Down's syndrome [4], VACTERL syndrome [3], and ectrodactyly-ectodermal dysplasia-cleft syndrome [5]. Most fistulas are unilateral and the most common localization is the inferonasal portion of the medial canthal tendon [6].…”

Double Jeopardy: Blepharophimosis Syndrome with Congenital Nasolacrimal Duct Obstruction in Twins

“…7 BPES has never been associated with CNLDO presumably because it primarily affects the soft tissues of the mid face, essentially sparing the orbital bones. 8 The failure of canalization of nasolacrimal duct could have been due to the influence of the same genetic factors governing BPES in these twin sisters.…”

Congenital absence of the nasolacrimal duct in velocardiofacial syndrome

“…Since both the nasolacrimal duct and the canaliculi develop from the primitive lacrimal sac, it is not surprising that anomalies in the punctum and canaliculi are associated with nasolacrimal duct dysgenesis. However, since dysgenesis of the proximal system ( punctum and canaliculi) is more commonly reported in the literature, 6 it appears that a more generalized or significant embryologic insult is necessary to induce dysgenesis of the nasolacrimal duct. It is interesting to note that in a review of 50 patients with lacrimal outflow dysgenesis, Ahn Yuen and colleagues 6 found that most cases of lacrimal sac or nasolacrimal duct dysgenesis (12/14 patients) were seen in patients with systemic syndromes or dysmorphism.…”

“…However, since dysgenesis of the proximal system ( punctum and canaliculi) is more commonly reported in the literature, 6 it appears that a more generalized or significant embryologic insult is necessary to induce dysgenesis of the nasolacrimal duct. It is interesting to note that in a review of 50 patients with lacrimal outflow dysgenesis, Ahn Yuen and colleagues 6 found that most cases of lacrimal sac or nasolacrimal duct dysgenesis (12/14 patients) were seen in patients with systemic syndromes or dysmorphism. Medial eyelid hypoplasia has been reported with canalicular malformations 6 but was not present in our case.…”