Alacrima - Living Without Tears

Introduction

Alacrima is a congenital condition (present since birth). There is no tearing in response to emotional stimulation but tearing in response to mechanical stimulation. It is usually inherited as a condition that can transfer from parent to child. It can also be due to neurogenic problems or because of brain damage. There is a mutation in the AAAS gene (achalasia-Addisonian-alacrima syndrome) located on chromosome 12q13. Patients also have a history of crying without tears since birth. It can be asymptomatic or painful in the eyes, with increased sensitivity to light called photophobia, and decreased visual acuity (inability to detect the shape and sharpness of objects).

What Are the Causes Associated With Alacrima?

There are several causes of alacrima mentioned below:

1. Nuclear Aplasia - Aplasia is a condition in which an organ or any other part of the body does not grow or develop from the birth of a baby. Some examples are optic nerve aplasia, acquired pure red cell aplasia, germ cell aplasia, thymic aplasia, and radial aplasia.

2. Lacrimal Gland Aplasia - It is a rare disorder characterized by hypoplasia of the lacrimal gland, also known as the tear gland that continuously supplies tear fluid. Generally, this condition is portrayed by epiphora, which means constant tearing, irritable eyes, and xerostomia (dryness of the mouth).

3. Isolated Congenital Alacrima - It is a very rare condition in which there is no presence of a lacrimal gland or salivary glands. Children with an isolated absence of the lacrimal gland can have normal tear film but lack the production of tears upon emotional stimulus. It is more often connected with progressive multisystem involvement from genetic disorders.

4. Riley-Day Familial Dysautonomia - Riley syndrome, also known as familial dysautonomia, is a rare recessive genetic disorder of the autonomic nervous system that impacts the development of sympathetic, sensory, and parasympathetic neurons of the nervous system. Riley syndrome symptoms include extreme sweating, constipation, dry eyes, poor coordination, unsteady walking, low blood pressure while standing, insensitivity to pain, seizures, difficulty eating, fewer tear secretions, and so on.

5. Failure of the Central Nervous System or Peripheral Nervous System - This is the main cause of alacrima when the central or peripheral nervous system fails.

6. Systemic Disorders - Alacrima can be closely associated with achalasia (difficulty in swallowing food or liquids because of damage to the nerve in the esophagus), Addison disease (a disorder that does not produces a certain hormone known as cortisol), hyperuricemia (increased uric acid level in blood), and ectodermal dysplasia (defect in skin, hair, nails, and sebaceous glands).

What Are the Symptoms Associated With Alacrima?

Ocular Findings Include

• Alacrima is asymptomatic initially and may show increased sensitivity to light and loss of visual acuity in later stages.

• Palsies of cranial nerves.

• Atrophy of optic nerve.

• Eyelids show chronic blepharoconjunctivitis (inflammation of the eyelid margin).

• Anisocoria (unequal size of pupils).

Systemic Findings Include

• Achalasia - difficulty in swallowing.

• Neurologic - peripheral and autonomic neuropathy.

• Musculoskeletal - osteoporosis (weakening of bones).

• Metabolic - adrenocortical insufficiency.

What Is the Diagnosis of Alacrima?

• Examine the eyes for preexisting corneal lesions and abrasions.

• A computed tomography scan shows aplasia of the lacrimal gland.

• Conjunctiva and lacrimal gland biopsy can be done to evaluate the condition.

• The ophthalmological examination may show mucoid debris and an incomplete and broken tear film with diffuse punctate staining of the cornea with fluorescein.

• The Schirmer test can be performed, and it is pathologic for basal and reflex tear volume assessment.

What Is the Management of Alacrima?

Medical Treatment - Pharmacotherapy aims to reduce the complications and morbidity associated with this disease.

• Artificial tears are used in the management of lacrimal to relieve ocular discomfort.

• Treatment is done with gels and ointments.

• Ocular inserts are used to treat progressive symptoms.

• Blepharoconjunctivitis can be managed by hot compresses and antibiotic drops or ointments.

• Cases of keratoconjunctivitis sicca with recurrent corneal erosion or ulceration can be treated with bandage contact lenses, aggressive topical lubricants, and antibiotics.

• Neostigmine is used to treat systemic autoimmune dysfunction.

Surgical Treatment - Surgical treatment is performed when conservative treatment does not work.

Temporary Occlusion - Temporary occlusion is carried out when the conservative treatment fails. It is achieved with the help of punctal plugs.

Permanent occlusion - Permanent occlusion is performed when conservative treatment fails. Inferior punctal occlusion and superior punctal occlusion (mechanical treatment in which tear drainage is blocked to preserve natural tears on the ocular surface) can be performed based on the severity of the disease. Thermal, electrical, and laser modalities can also be done to treat the condition. Good results are seen when the punctum and the canaliculus's vertical limb are obliterated.

Tarsorrhaphy - Tarsorrhaphy is a simple and safe procedure. It is indicated when there is ocular compromise and breakdown of the cornea. Patients are asked to come for follow-up if the condition does not improve despite the treatment or when the patient develops new symptoms. Complications of tarsorrhaphy include keloid formation and granuloma of the eyelid.

What Is the Differential Diagnosis of Alacrima?

• A dry eye disease called keratoconjunctivitis sicca.

• Interstitial keratitis (non-ulcerating inflammation of the cornea).

• Severe developmental delay.

• Intellectual disability (problems with general mental abilities).

• Potentially life-threatening autonomic dysregulation.

What Are the Complications Associated With Alacrima?

• Keratoconjunctivitis sicca (dryness of conjunctiva and cornea).

• Corneal decompensation (non-specific response to mechanical injury using intraocular instruments during surgery).

• Bacterial keratitis (infection of the cornea caused by bacteria).

• Recurrent corneal erosion (a recurrent condition in which there is an injury to the cornea).

• Canaliculitis (infection and swelling of the canaliculus).

• Local irritation.

• Recurrent dacryocystitis (chronic obstruction of the lacrimal sac due to systemic disease of the nasolacrimal system).

• Epiphora (excessive tearing).

Conclusion

Alacrima is a wide variety of lacrimal disorders that are mostly congenital. It is a rare condition associated with triple AAA syndrome suggested to be investigated and examined in children suffering from alacrima. Symptoms range from absence to hyposecretion of tears and loss of tearing during the emotional stimulus, but there is tearing during the mechanical stimulus. Therefore, the practitioner should be able to recognize the diagnosis early and refer them to the appropriate specialists.