Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Ataxia-Telangiectasia in Ophthalmology Clinical Presentation

  • Author: Andrew A Dahl, MD, FACS; Chief Editor: Hampton Roy, Sr, MD  more...
 
Updated: Jan 14, 2014
 

History

The syndrome of ataxia-telangiectasia is characterized by pathological changes in various systems of the body. Clinically, the central nervous system, eye, skin, upper and lower respiratory tracts, immune system, and viscera are involved.

  • Central nervous system
    • Cerebellar and extrapyramidal systems are the most affected.
    • Truncal ataxia is the first presenting symptom of ataxia-telangiectasia and usually appears after the child starts to walk. The first manifestations of truncal ataxia are swaying of the head and trunk on standing and even sitting. The ataxia is progressive and is accompanied by loss of deep tendon reflexes, dystonia, drooling, and dysarthria. Motor function continues to deteriorate, and, by age 10 years, it leads to serious disability, making the use of a wheelchair necessary.
    • Mental changes are not detectable in the earlier stages of ataxia-telangiectasia. As the child grows older, deterioration in mental processes occurs with slowing of reactions and lack of responsiveness. Evidence of mental retardation becomes apparent as ataxia-telangiectasia progresses.
  • Eye
    • Telangiectasia of the conjunctiva has a later onset than ataxia and usually appears at age 3-7 years. The telangiectasia is first noted in the interpalpebral bulbar conjunctiva away from the limbus. Eventually, the ocular telangiectasia becomes generalized and simulates a conjunctivitis.
    • Oculomotor abnormalities appear early in ataxia-telangiectasia and consist of an inability to execute voluntary gaze movements rapidly or on command. Version movements are not restricted, but, on command gaze, they are performed in a halting dyssynergistic fashion. Nystagmus may reduce distance visual acuity and impair fixation. The vestibulo-ocular movements are preserved, but there is a poor ability to initiate saccades. Convergence ability frequently is impaired.
    • Visual acuity, pupillary reflex responses, and fundi are normal.
  • Skin
    • Cutaneous telangiectasia becomes apparent at age 3-7 years. It is first seen on the ears and palate, across the butterfly area of the face, and the bridge of the nose. As the patient gets older, the telangiectasia extends to the neck, the dorsum of the hands and feet, and in the antecubital and popliteal areas. The telangiectatic vessels originate from the subpapillary venous plexuses.
    • Vitiligo and premature graying of the hair have been observed. Other skin manifestations of ataxia-telangiectasia are as follows: seborrheic dermatitis, atopic dermatitis, café au lait spots, scleroderma-like changes, and nummular eczema.
  • Upper and lower respiratory tracts
    • Frequent sinopulmonary infections are common manifestations of ataxia-telangiectasia. The onset of these frequent respiratory infections tends to occur at age 4-6 years.
    • Recurrent bronchitis and sinusitis lead to bronchiectasis and pulmonary fibrosis. The recurrent respiratory infections are the cause of death during adolescence or young adulthood even with optimal antimicrobial and supportive treatment.
  • Immune system
    • A common feature in ataxia-telangiectasia is the deficiency of immunoglobulin A (IgA) associated with normal or elevated levels of immunoglobulin G (IgG) and immunoglobulin M (IgM). Normally, IgA represents approximately 90% of the globulin in nasal secretions and 5% of the serum globulin. Since nasal secretions are associated with antiviral activity and are deficient in ataxia-telangiectasia, there appears to be a causal relationship to the susceptibility for respiratory infection observed in ataxia-telangiectasia.
    • Immunological abnormalities in ataxia-telangiectasia include the following: decreased peripheral lymphoid tissue, stunted growth, lymphopenia, absence of delayed hypersensitivity, impaired skin homograft rejection, impaired circulating antibody response to some (weak) antigens, and impaired T-cell function. An elevated alpha-fetoprotein level, present in almost all patients with ataxia-telangiectasia, often is associated with pathologic conditions of the liver and chronic hepatitis.
  • Viscera: Hypoplasia or atrophy of the thymus gland is a characteristic finding in ataxia-telangiectasia. Ataxia-telangiectasia is associated with glucose intolerance and insulin resistance probably due to defects in the affinity of the receptors for insulin.
Next

Physical

See the list below:

  • The facies are usually dull, relaxed, and sad, but they are in sharp contrast to the cheerful alert appearance when the child is made to smile.
  • Hair and skin tend to be coarse and dry. Some gray hair is visible.
  • Ataxia of stance and gait, greatly diminished tendon reflexes, dysmetria of the arm movements, decreased tone in the arms and legs, and flexor plantar reflexes are present.
  • Vascular markings of the bulbar conjunctiva, external ears, nasal septum, butterfly of the face, and hard and soft palates are seen.
  • Tympanic membranes usually are scarred and thickened.
  • Postnasal drainage and drooling usually are present.
  • Inspiratory and expiratory rales are present in the lungs.
  • Testicular or ovarian atrophy is often present.
Previous
Next

Causes

DNA processing or repair protein is the suspected common denominator in ataxia-telangiectasia.

Ataxia-telangiectasia is inherited as autosomal recessive. Ataxia-telangiectasia is caused by mutations in the ATM (ataxia telangiectasia mutated) gene, which has been localized to band 11q22-23. Each parent is a carrier, meaning that they have 1 normal copy of ATM and 1 copy that is mutated. Ataxia-telangiectasia occurs if a child inherits the mutated ATM gene from each parent, so in a family with 2 carrier parents, there is 1 in 4 chance that a child born to the parents will have ataxia-telangiectasia.[2]

Ataxia-telangiectasia–like disorder (ATLD) is a rarer disease, caused by a mutation in the hMre11 gene. Patients with ATLD are very similar to those with ataxia-telangiectasia except they do not have telangiectasia, have normal immunoglobulins, and have a slower progression of symptoms.[2]

Previous
 
 
Contributor Information and Disclosures
Author

Andrew A Dahl, MD, FACS Assistant Professor of Surgery (Ophthalmology), New York College of Medicine (NYCOM); Director of Residency Ophthalmology Training, The Institute for Family Health and Mid-Hudson Family Practice Residency Program; Staff Ophthalmologist, Telluride Medical Center

Andrew A Dahl, MD, FACS is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, American Intraocular Lens Society, American Medical Association, American Society of Cataract and Refractive Surgery, Contact Lens Association of Ophthalmologists, Medical Society of the State of New York, New York State Ophthalmological Society, Outpatient Ophthalmic Surgery Society

Disclosure: Nothing to disclose.

Coauthor(s)

Sherif M El-Harazi, MD, MPH Private Practice in Ophthalmology

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, International Society of Refractive Surgery

Disclosure: Nothing to disclose.

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

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

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

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, Sigma Xi, Southern Medical Association, Pan-American Association of Ophthalmology

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, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Additional Contributors

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

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

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. 1958 Apr. 21(4):526-54. [Medline].

  2. Anheim M, Tranchant C, Koenig M. The autosomal recessive cerebellar ataxias. N Engl J Med. 2012 Feb 16. 366(7):636-46. [Medline].

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

  4. Farr AK, Shalev B, Crawford TO, Lederman HM, Winkelstein JA, Repka MX. Ocular manifestations of ataxia-telangiectasia. Am J Ophthalmol. 2002 Dec. 134(6):891-6. [Medline].

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

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

  7. Gatti RA, Boder E, Vinters HV, Sparkes RS, Norman A, Lange K. Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis. Medicine (Baltimore). 1991 Mar. 70(2):99-117. [Medline].

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

  9. Karpati G, Eisen AH, Andermann F, Bacal HL, Robb P. Ataxia-Telangiectasia. Further Observatons and Report of Eight Cases. Am J Dis Child. 1965 Jul. 110:51-63. [Medline].

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

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

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

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

  14. 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. 2007 Aug. 85(5):557-62. [Medline].

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

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

 
Previous
Next
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.