A New Syndrome Associated with Absence of Lower Lid Lacrimal Punctum, Ptosis, Elevation Deficiency of Both Eyes and Mild Facial Dysmorphism

Abstract

A considerable volume of literature has been published on the association of lacrimal outflow dysgenesis with developmental anomalies or systemic syndromes. We report three affected individuals in a consanguineous family those are associated with bilateral ptosis, upper ocular movement limitation, and absence of the lacrimal punctum. T our knowledge, this is the first article reporting the association of bilateral ptosis, facial dysmorphism, upper ocular movement limitation, and absence of the lacrimal punctum in a hereditary form. As a sole example, these findings may be accepted as a new syndrome with autosomal recessive pattern because of consanguinity.

Keywords:

• Absence of lacrimal punctum
• upper ocular movement limitation
• ptosis
• facial dysmorphism