Ataxia-Telangiectasia in Ophthalmology Questions & Answers

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2. 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. [QxMD MEDLINE Link].

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

5. Federighi P, Ramat S, Rosini F, Pretegiani E, Federico A, Rufa A. Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis. Front Neurol. 2017. 8:596. [QxMD MEDLINE Link]. [Full Text].

6. Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM. Ataxia telangiectasia: a review. Orphanet J Rare Dis. 2016 Nov 25. 11 (1):159. [QxMD MEDLINE Link].

7. Mahon SM. Management of Individuals With a Mutation in the Ataxia Telangiectasia Mutated Gene. Oncol Nurs Forum. 2016 Jan. 43 (1):114-7. [QxMD MEDLINE Link].

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

9. 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. [QxMD MEDLINE Link].

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

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

14. 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. [QxMD MEDLINE Link].

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

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19. 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. [QxMD MEDLINE Link].

20. 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. [QxMD MEDLINE Link].

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

22. Tang SY, Shaikh AG. Past and Present of Eye Movement Abnormalities in Ataxia-Telangiectasia. Cerebellum. 2019 Jun. 18 (3):556-564. [QxMD MEDLINE Link].

23. Voss S, Pietzner J, Hoche F, Taylor AM, Last JI, Schubert R, et al. Growth retardation and growth hormone deficiency in patients with Ataxia telangiectasia. Growth Factors. 2014 Jun. 32 (3-4):123-9. [QxMD MEDLINE Link].

24. van Os NJ, Roeleveld N, Weemaes CM, Jongmans MC, Janssens GO, Taylor AM, et al. Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline. Clin Genet. 2016 Aug. 90 (2):105-17. [QxMD MEDLINE Link].

25. Sahama I, Sinclair K, Pannek K, Lavin M, Rose S. Radiological imaging in ataxia telangiectasia: a review. Cerebellum. 2014 Aug. 13 (4):521-30. [QxMD MEDLINE Link].

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.

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

Disclosure: Nothing to disclose.

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.

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, The Scientific Research Honor Society, Southern Medical Association, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

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.

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.

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