eMedicine Specialties > Ophthalmology > Lacrimal System

Alacrima

Author: Dan D DeAngelis, MD, FRCS(C), Ophthalmic Plastic and Reconstructive Surgery, Assistant Professor, Department of Ophthalmology and Vision Sciences, University of Toronto
Coauthor(s): Jeff Hurwitz, MD, FRCS(C), Director of Ophthalmic Plastic Surgery, Ophthalmologist-in-Chief, Mount Sinai Hospital; Chairman, Professor, Department of Ophthalmology, University of Toronto, Canada
Contributor Information and Disclosures

Updated: Nov 7, 2007

Introduction

Background

Alacrima refers to a wide spectrum of lacrimal secretory disorders that are mostly congenital in origin. Symptoms of these disorders can range from a complete absence of tears to hyposecretion of tears; symptoms of rarer disorders include a selective absence of tearing in response to emotional stimulation but a normal secretory response to mechanical stimulation.

Pathophysiology

The disorder is usually inherited in an autosomal recessive fashion, but dominant pedigrees have been described. Mutations in the AAAS gene on chromosome band 12q13 have been described in several pedigrees with Allgrove (or triple-A) syndrome. The AAAS gene encodes a 547-amino acid protein named ALADIN (for alacrima-achalasia-adrenal insufficiency-neurologic disorder), which belongs to the family of regulatory proteins that play an important role in regulating intracellular protein transport.1

Etiologies can be separated into pathological mechanisms or syndromic associations. See Causes.

Frequency

United States

Uncommon

International

Uncommon

Mortality/Morbidity

Corneal sequelae are the most feared complication.

Age

Onset of this condition occurs in infancy.

Clinical

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 may be either ocular or systemic.

  • Eyelids - Chronic blepharoconjunctivitis
  • Tear film - Decreased/absent tear production
  • Conjunctiva - Hyperemia, thick mucoid discharge
  • Cornea - Hypesthesia, interstitial keratitis, pannus, subepithelial opacities, infectious ulcers, corneal perforations
  • Extraocular muscles - Palsies of cranial nerves III, IV, and VI
  • Pupils - Anisocoria, tonic pupils
  • Optic nerve - Optic atrophy
  • Orbit – Absence of the palpebral lobe of the lacrimal gland
  • Systemic findings
    • 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.
  • Mechanism
    • Nuclear aplasia
    • Failure of central nervous system/peripheral nervous system (CNS/PNS) innervation
    • Lacrimal gland aplasia/hypoplasia
  • 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

More on Alacrima

Overview: Alacrima
Differential Diagnoses & Workup: Alacrima
Treatment & Medication: Alacrima
Follow-up: Alacrima
References
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References

  1. Huebner A, Kaindl AM, Knobeloch KP, Petzold H, Mann P, Koehler K. The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex. Endocr Res. Nov 2004;30(4):891-9. [Medline].

  2. Akova YA, Demirhan B, Cakmakci S, Aydin P. Pyogenic granuloma: a rare complication of silicone punctal plugs. Ophthalmic Surg Lasers. Jul-Aug 1999;30(7):584-5. [Medline].

  3. Allgrove J, Clayden GS, Grant DB, Macaulay JC. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet. Jun 17 1978;1(8077):1284-6. [Medline].

  4. Babu K, Murthy KR, Babu N, Ramesh S. Triple A syndrome with ophthalmic manifestations in two siblings. Indian J Ophthalmol. Jul-Aug 2007;55(4):304-6. [Medline].

  5. Davidoff E, Friedman AH. Congenital alacrima. Surv Ophthalmol. Sep-Oct 1977;22(2):113-9. [Medline].

  6. Gazarian M, Cowell CT, Bonney M, Grigor WG. The "4A" syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities. Eur J Pediatr. Jan 1995;154(1):18-23. [Medline].

  7. Hegab SM, al-Mutawa SA. Congenital hereditary autosomal recessive alacrima. Ophthalmic Genet. Mar 1996;17(1):35-8. [Medline].

  8. Kinjo S, Takemoto M, Miyako K, Kohno H, Tanaka T, Katsumata N. Two cases of Allgrove syndrome with mutations in the AAAS gene. Endocr J. Oct 2004;51(5):473-7. [Medline].

  9. Mondino BJ, Brown SI. Hereditary congenital alacrima. Arch Ophthalmol. Sep 1976;94(9):1478-84. [Medline].

  10. Moore PS, Couch RM, Perry YS, Shuckett EP, Winter JS. Allgrove syndrome: an autosomal recessive syndrome of ACTH insensitivity, achalasia and alacrima. Clin Endocrinol (Oxf). Feb 1991;34(2):107-14. [Medline].

  11. Mullaney PB, Weatherhead R, Millar L, Ayyash II, Ayberk H, Cai F, et al. Keratoconjunctivitis sicca associated with achalasia of the cardia, adrenocortical insufficiency, and lacrimal gland degeneration: Keratoconjunctivitis sicca secondary to lacrimal gland degeneration may parallel degenerative changes in esophageal and adrenocortical function. Ophthalmology. Apr 1998;105(4):643-50. [Medline].

  12. Ornek K, Atilla H, Zilelioglu G. Pediatric alacrima, achalasia, and mental retardation. J AAPOS. Aug 2002;6(4):261-3. [Medline].

  13. Riley CM. Familial autonomic dysfunction. J Am Med Assoc. Aug 23 1952;149(17):1532-5. [Medline].

  14. Sjogren H. The lacrimal secretion in newborn premature and fully developed children. Acta Ophthalmol (Copenh). 1955;33(5):557-60. [Medline].

  15. Smith RS, Maddox SF, Collins BE. Congenital alacrima. Arch Ophthalmol. Jan 1968;79(1):45-8. [Medline].

  16. Uleckas JK, Garel L, Milot J, Mathieu-Millaire F. Orbital CT scan in congenital alacrima. J Pediatr Ophthalmol Strabismus. Mar-Apr 1994;31(2):114-7. [Medline].

  17. Weber A, Wienker TF, Jung M, Easton D, Dean HJ, Heinrichs C, et al. Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. Hum Mol Genet. Dec 1996;5(12):2061-6. [Medline].

  18. Yoshita T, Kobayashi A, Sugiyama K. Bilateral corneal perforation in an infant with congenital alacrima. J Pediatr Ophthalmol Strabismus. Jul-Aug 2006;43(4):236-8. [Medline].

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Further Reading

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Keywords

lacrimal secretory disorders, lacrimal gland, dry eyes, keratoconjunctivitis sicca, Allgrove syndrome, Allgrove's syndrome, triple-A syndrome, triple A syndrome, AAA, 4A syndrome, achalasia, adrenocorticotropic hormone, ACTH, ACTH insensitivity, adrenal insufficiency, isolated glucocorticoid deficiency, achalasia-addisonian, glucocorticoid deficiency-achalasia, addisonian-achalasia, alacrima-achalasia-addisonianism, autosomal recessive disorder

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Contributor Information and Disclosures

Author

Dan D DeAngelis, MD, FRCS(C), Ophthalmic Plastic and Reconstructive Surgery, Assistant Professor, Department of Ophthalmology and Vision Sciences, University of Toronto
Dan D DeAngelis, MD, FRCS(C) is a member of the following medical societies: American Academy of Ophthalmology, American Society of Ophthalmic Plastic and Reconstructive Surgery, California Medical Association, Canadian Medical Association, Canadian Ophthalmological Society, Ontario Medical Association, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

Coauthor(s)

Jeff Hurwitz, MD, FRCS(C), Director of Ophthalmic Plastic Surgery, Ophthalmologist-in-Chief, Mount Sinai Hospital; Chairman, Professor, Department of Ophthalmology, University of Toronto, Canada
Disclosure: Nothing to disclose.

Medical Editor

Jorge G Camara, MD, Chairman, Department of Ophthalmology and Otorhinolaryngology, Director of Fellowship Training Program, St Francis Medical Center; Associate Professor, Department of Surgery, University of Hawaii School of Medicine
Jorge G Camara, MD is a member of the following medical societies: American Academy of Ophthalmology and American Medical Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Mark T Duffy, MD, PhD, Consulting Staff, Division of Oculoplastic, Orbito-facial, Lacrimal, and Reconstructive Surgery, Green Bay Eye Clinic, BayCare Clinic
Mark T Duffy, MD, PhD is a member of the following medical societies: American Academy of Ophthalmology, American Medical Association, American Society of Ophthalmic Plastic and Reconstructive Surgery, Sigma Xi, and Society for Neuroscience
Disclosure: Allergan - Botox Cosmetic Consulting fee Consulting; Quest medical - lacrimal balloons Honoraria Speaking and teaching

CME Editor

Lance L Brown, OD, MD, Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri
Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy Sr, MD, Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences
Hampton Roy Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, and Pan-American Association of Ophthalmology
Disclosure: Nothing to disclose.

 
 
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