Alacrima

Alacrima is a medical condition characterized by a decreased or absent tear production. It is often associated with certain genetic disorders, such as Alacrima-achalasia-adrenal insufficiency neurologic disorder (AAAND) and Congenital alacrima.

Symptoms

The primary symptom of alacrima is a decreased or absent tear production, which can lead to dry eye syndrome, eye irritation, and increased risk of eye infections. Other symptoms can include difficulty swallowing (due to achalasia), and adrenal insufficiency.

Causes

Alacrima is often caused by mutations in the AAAS gene. This gene provides instructions for making a protein that is found in many types of cells and tissues, including nerve cells (neurons) and cells that produce hormones (endocrine cells). The AAAS protein is involved in the normal functioning of the nervous and endocrine systems.

Diagnosis

Diagnosis of alacrima is based on the clinical symptoms and confirmed by genetic testing. The genetic test involves sequencing of the AAAS gene to identify any mutations.

Treatment

Treatment for alacrima primarily involves managing the symptoms. This can include the use of artificial tears to alleviate dry eyes, medications to manage adrenal insufficiency, and surgery to treat achalasia.

See also

• Achalasia
• Adrenal insufficiency
• Dry eye syndrome

References

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