Hereditary disorders affecting the lacrimal system

Encountering a patient with lacrimal dysgenesis or agenesis is not an uncommon occurrence in an oculoplastic surgeon's practice. Eliciting a hereditary component in patients with lacrimal disorders is helpful in determining the underlying cause of the condition. The purpose of this review is to assist the clinician in understanding and categorizing those lacrimal disorders with a hereditary component.

Compared with genetic diseases which affect the eyelids, hereditary disorders that affect the lacrimal system are fewer in number. These disorders can be categorized into the following groups: fibroblast growth factor 10 associated disorders, tumor protein p63 associated disorders, disorders associated with the development of the branchial apparatus, and disorders associated with autonomic dysfunction. In addition, there are a number of reports of inherited disorders affecting the lacrimal system that have not been elucidated molecularly.

Inherited disorders that affect the lacrimal system are limited in number. Knowledge of these disorders by the oculoplastic surgeon may aid in the correct diagnosis, which in turn will allow appropriate treatment of these patients.