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Hereditary disorders affecting the lacrimal system.

Richard C Allen1

  • 1aDepartment of Ophthalmology and Visual Sciences bDepartment of Otolaryngology - Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.

Current Opinion in Ophthalmology
|July 17, 2014
PubMed
Summary

Hereditary lacrimal system disorders are rare but important for oculoplastic surgeons to understand. Categorizing these conditions aids in accurate diagnosis and effective patient treatment.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Oculoplastics

Background:

  • Lacrimal dysgenesis and agenesis are common in oculoplastic practice.
  • Identifying a hereditary component is crucial for diagnosing lacrimal disorders.
  • Understanding genetic links aids in determining the underlying cause of lacrimal system abnormalities.

Purpose of the Study:

  • To review and categorize hereditary lacrimal system disorders.
  • To provide clinicians with a framework for understanding these rare conditions.
  • To enhance diagnostic capabilities for patients with inherited lacrimal abnormalities.

Main Methods:

  • Literature review of hereditary lacrimal disorders.
  • Categorization based on associated genetic factors and developmental pathways.
  • Synthesis of current knowledge on molecularly unelucidated inherited lacrimal conditions.

Main Results:

  • Hereditary lacrimal disorders are less common than eyelid genetic diseases.
  • Key categories include fibroblast growth factor 10 (FGF10) and tumor protein p63 (TP63) associated disorders.
  • Other categories involve branchial apparatus development and autonomic dysfunction.
  • Some inherited lacrimal disorders lack molecular elucidation.

Conclusions:

  • Inherited lacrimal system disorders are limited but clinically significant.
  • Oculoplastic surgeons benefit from knowledge of these conditions for accurate diagnosis.
  • Improved understanding facilitates appropriate and targeted patient treatment.