History
Patients with alacrima can have a wide spectrum of clinical presentations, from entirely asymptomatic and comfortable to presenting with debilitating symptoms of foreign body sensation, photophobia, ocular pain, and decreased visual acuity.
Parents may notice that there is a history of crying without tears since birth.
Information obtained from the history may be significant when alacrima is syndromic and associated with other findings.
Physical
Physical findings of alacrima may be either ocular or systemic, as follows:
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Eyelids - Chronic blepharoconjunctivitis
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Tear film - Decreased/absent tear production
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Conjunctiva - Hyperemia, thick mucoid discharge, keratinization
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Cornea - Hypesthesia, interstitial keratitis, pannus, subepithelial opacities, infectious ulcers, corneal perforations
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Extraocular muscles - Palsies of cranial nerves III, IV, and VI
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Pupils - Anisocoria, tonic pupils
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Optic nerve - Optic atrophy
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Orbit - Absence of the orbital and/or palpebral lobe of the lacrimal gland
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Systemic findings include the following:
Gastrointestinal - Xerostomia, achalasia, decreased salivation
Neurologic - Peripheral and autonomic neuropathy
Musculoskeletal - Osteoporosis, short stature
Metabolic - Adrenocortical insufficiency
Causes
Etiologies can be separated into pathological mechanisms or syndromic associations.
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Mechanism
Nuclear aplasia
Failure of central nervous system/peripheral nervous system (CNS/PNS) innervation
Lacrimal gland aplasia/hypoplasia
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Syndromic
Isolated congenital alacrima
Riley-Day syndrome - Familial dysautonomia
Anhidrotic ectodermal dysplasia - Decreased sweating and salivation, heat intolerance, hypotrichosis
Sjögren syndrome - Xerostomia, salivary gland enlargement, collagen-vascular disease association
Allgrove (or triple-A) syndrome - Achalasia, alacrima, adrenocorticotropic hormone (ACTH) insensitivity, late neurologic manifestations