Ataxia-Telangiectasia in Ophthalmology 

  • Author: Andrew A Dahl, MD; Chief Editor: Hampton Roy Sr, MD   more...
 
Updated: May 7, 2010
 

Background

Ataxia-telangiectasia (AT) is a genetic disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, and recurrent respiratory and sinus infections.

The first case described in the literature was a 9-year-old child with progressive cerebellar ataxia and bilateral oculocutaneous telangiectasia reported in 1941 by Madame Louis-Bar. Initially known as the Louis-Bar syndrome, the term ataxia-telangiectasia was introduced in 1958 by Boder et al, who recorded the clinical features and recognized the familial incidence proposing an autosomal recessive mode of inheritance for the disease.[1] The disease is sometimes referred to as Boder-Sedgwick syndrome.

Progressive cerebellar ataxia usually becomes clinically apparent when the child begins to walk. The ataxia affects station, gait, and intention. Telangiectasia of the bulbar conjunctiva first appears at age 3-7 years and, subsequently, involves the malar areas, palate, ears, and antecubital and popliteal spaces. Other features of this syndrome include retardation of growth, dysarthric speech, dry coarse hair and skin, and mental retardation after age 10 years. The complete syndrome includes hypoplasia of the thymus associated with defective T-cell function and decreased levels of circulating immunoglobulin. Recurrent respiratory tract and sinus infections are common, frequently causing death in adolescence or young adulthood. A high incidence of malignancies, particularly leukemia and Hodgkin's lymphoma, occurs.

Ataxia-telangiectasia combines central nervous system disease with an oculocutaneous anomaly, fulfilling the criteria for classification within the phakomatoses group of diseases.

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Pathophysiology

Ataxia-telangiectasia mainly is due to a defect in a DNA processing or repair protein. The cerebellar and extrapyramidal systems are the most severely affected. This syndrome is characterized by a severe loss of Purkinje cells and, to a lesser degree, the basket and granular cells of the cerebellar cortex. Other pathological changes include cerebellar cortical atrophy, diffuse fibrillary gliosis, and degeneration of the anterior horn cells of the spinal cord. Studies have revealed reduced levels of cerebellar neurotransmitters, including phosphoethanolamine, gamma-aminobutyric acid (GABA), and glutamic acid.

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Epidemiology

Frequency

United States

The true incidence of ataxia-telangiectasia is unknown. Although ataxia-telangiectasia is rare, the prevalence has been estimated at about 1 in 40,000-50,000.

Mortality/Morbidity

The cause of death in more than 50% of patients with ataxia-telangiectasia is recurrent respiratory infections.

Increased susceptibility to cancer contributes to early mortality in one third to one half of cases. Ataxia-telangiectasia is an autosomal recessive syndrome in which cancers develop in affected homozygotes at a rate approximately 100 times higher than in unaffected age-matched subjects. Retrospective studies have shown that persons heterozygous for the ataxia-telangiectasia gene, who make up about 1% of the general population, also have an excess risk of cancer, particularly breast cancer in women. Patients with ataxia-telangiectasia and cells derived from homozygotes and heterozygotes are unusually sensitive to ionizing radiation.

Sex

Males and females are affected equally.

Age

The mean age of patients with ataxia-telangiectasia at the time of presentation is 2.5-7 years.

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Contributor Information and Disclosures
Author

Andrew A Dahl, MD  Director of Ophthalmology Teaching, Mid-Hudson Family Practice Institute, The Institute for Family Health; Assistant Professor of Surgery (Ophthalmology), New York College of Medicine

Andrew A Dahl, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Ophthalmology, American College of Surgeons, American Medical Association, American Society of Cataract and Refractive Surgery, and Wilderness Medical Society

Disclosure: Nothing to disclose.

Coauthor(s)

Diego Calonje, MD  Consulting Staff, Department of Ophthalmology, Private Practice

Disclosure: Nothing to disclose.

Sherif M El-Harazi, MD, MPH  Consulting Staff, Department of Ophthalmology, Sherif El-Harazi, MD

Sherif M El-Harazi, MD, MPH is a member of the following medical societies: American Academy of Ophthalmology, American Medical Association, American Society of Cataract and Refractive Surgery, and International Society of Refractive Surgery

Disclosure: Nothing to disclose.

Specialty Editor Board

Gerhard W Cibis, MD  Clinical Professor, Director of Pediatric Ophthalmology Service, Department of Ophthalmology, University of Kansas, Kansas City

Gerhard W Cibis, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, and American Ophthalmological Society

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

J James Rowsey, MD  Former Director of Corneal Services, St Luke's Cataract and Laser Institute, Florida

J James Rowsey, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for the Advancement of Science, American Medical Association, Association for Research in Vision and Ophthalmology, Florida Medical Association, Pan-American Association of Ophthalmology, Sigma Xi, and Southern Medical Association

Disclosure: Nothing to disclose.

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.

References
  1. Boder E, Sedgwick RP. Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics. Apr 1958;21(4):526-54. [Medline].

  2. Albert DM, et al. Phakomatoses-Ataxia-Telangiectasia (Louis-Bar Syndrome). In: Principles and Practice of Ophthalmology Clinical Practice. Philadelphia: WB Saunders; 1994.

  3. Farr AK, Shalev B, Crawford TO, et al. Ocular manifestations of ataxia-telangiectasia. Am J Ophthalmol. Dec 2002;134(6):891-6. [Medline].

  4. Fireman P, et al. Ataxia-telangiectasia: a dysgammaglobulinemia with deficient Gamma 1A (B2A) Globulin. Lancet. 1964;1:1193-5.

  5. Gatti RA, Berkel I, Boder E, et al. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature. Dec 8 1988;336(6199):577-80. [Medline].

  6. Gatti RA, Boder E, Vinters HV, et al. Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis. Medicine (Baltimore). Mar 1991;70(2):99-117. [Medline].

  7. Harley RD, Baird HW, Craven EM. Ataxia-telangiectasia. Report of seven cases. Arch Ophthalmol. May 1967;77(5):582-92. [Medline].

  8. Karpati G, et al. Ataxia-telangiectasia. Am J Dis Child. 1965;110:51.

  9. Khan AO, Oystreck DT, Koenig M, et al. Ophthalmic features of ataxia telangiectasia-like disorder. J AAPOS. Apr 2008;12(2):186-9. [Medline].

  10. Lewis RF, Crawford TO. Slow target-directed eye movements in ataxia-telangiectasia. Invest Ophthalmol Vis Sci. Mar 2002;43(3):686-91. [Medline].

  11. Lewis RF, Lederman HM, Crawford TO. Ocular motor abnormalities in ataxia telangiectasia. Ann Neurol. Sep 1999;46(3):287-95. [Medline].

  12. Perlman S, Becker-Catania S, Gatti RA. Ataxia-telangiectasia: diagnosis and treatment. Semin Pediatr Neurol. Sep 2003;10(3):173-82. [Medline].

  13. Riise R, Ygge J, Lindman C, et al. Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study. Acta Ophthalmol Scand. Aug 2007;85(5):557-62. [Medline].

  14. Swift M, Reitnauer PJ, Morrell D, et al. Breast and other cancers in families with ataxia-telangiectasia. N Engl J Med. May 21 1987;316(21):1289-94. [Medline].

  15. Tadjoedin MK, et al. Hereditary of Ataxia-Telangiectasia (Louis-Bar Syndrome). Amer J Dis Child. July 1965;110.

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