Familial Dysautonomia Differential Diagnoses

  • Author: Robert A D'Amico; Chief Editor: Hampton Roy Sr, MD   more...
 
Updated: Nov 21, 2011
 
 
 
Contributor Information and Disclosures
Author

Robert A D'Amico  MD, Chairman, Department of Ophthalmology, Richmond University Medical Center; Clinical Professor, Department of Ophthalmology, New York University School of Medicine

Robert A D'Amico is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, American Medical Association, Association for Research in Vision and Ophthalmology, Association of University Professors of Ophthalmology, Cornea Society, International Society for Genetic Eye Diseases and Retinoblastoma, Medical Society of the State of New York, New York Academy of Medicine, Transplantation Society, and Xenotransplantation Society

Disclosure: Nothing to disclose.

Coauthor(s)

Felicia B Axelrod, MD  Director of Dysautonomia Treatment and Evaluation Center, Carl Seaman Family Professor for Dysautonomia Treatment and Research, Professor, Departments of Pediatrics and Neurology, New York University School of Medicine

Felicia B Axelrod, MD is a member of the following medical societies: American Academy of Pediatrics, American Autonomic Society, American Medical Association, American Pediatric Society, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Specialty Editor Board

Andrew W Lawton, MD  Medical Director of Neuro-Ophthalmology Service, Section of Ophthalmology, Baptist Eye Center, Baptist Health Medical Center

Andrew W Lawton, MD is a member of the following medical societies: American Academy of Ophthalmology, Arkansas Medical Society, and Southern Medical Association

Disclosure: Nothing to disclose.

Simon K Law, MD, PharmD  Associate Professor of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, David Geffen School of Medicine

Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, American Glaucoma Society, and Association for Research in Vision and Ophthalmology

Disclosure: Nothing to disclose.

Brian R Younge, MD  Professor of Ophthalmology, Mayo Clinic School of Medicine

Brian R Younge, MD is a member of the following medical societies: American Medical Association, American Ophthalmological Society, and North American Neuro-Ophthalmology Society

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. Axelrod FB. Familial dysautonomia. Muscle Nerve. Mar 2004;29(3):352-63. [Medline].

  2. Axelrod FB. A world without pain or tears. Clin Auton Res. Apr 2006;16(2):90-7. [Medline].

  3. Riley CM, Day RL, Greeley DM. Central autonomic dysfunction with defective lacrimation: report of five cases. In: Pediatrics. Vol. 3. 1949:468-77.

  4. Anderson SL, Coli R, Daly IW, et al. Familial dysautonomia is caused by mutations of the IKAP gene. Am J Hum Genet. Mar 2001;68(3):753-8. [Medline].

  5. Leyne M, Mull J, Gill SP, et al. Identification of the first non-Jewish mutation in familial Dysautonomia. Am J Med Genet A. May 1 2003;118A(4):305-8. [Medline].

  6. Slaugenhaupt SA, Blumenfeld A, Gill SP, et al. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet. Mar 2001;68(3):598-605. [Medline].

  7. Pearson J, Pytel BA, Grover-Johnson N, et al. Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia. J Neurol Sci. Jan 1978;35(1):77-92. [Medline].

  8. Axelrod FB, Goldberg JD, Ye XY, et al. Survival in familial dysautonomia: Impact of early intervention. J Pediatr. Oct 2002;141(4):518-23. [Medline].

  9. Brunt PW, McKusick VA. Familial dysautonomia. A report of genetic and clinical studies, with a review of the literature. Medicine (Baltimore). Sep 1970;49(5):343-74. [Medline].

  10. Porges RF, Axelrod FB, Richards M. Pregnancy in familial dysautonomia. Am J Obstet Gynecol. Nov 1 1978;132(5):485-8. [Medline].

  11. Elkayam L, Matalon A, Tseng CH, et al. Prevalence and severity of renal disease in familial dysautonomia. Am J Kidney Dis. Nov 2006;48(5):780-6. [Medline].

  12. Clayson D, Welton W, Axelrod FB. Personality development and familial dysautonomia. Pediatrics. Feb 1980;65(2):269-74. [Medline].

  13. Sands SA, Giarraffa P, Jacobson CM, et al. Familial dysautonomia's impact on quality of life in childhood, adolescence, and adulthood. Acta Paediatr. Apr 2006;95(4):457-62. [Medline].

  14. Welton W, Clayson D, Axelrod FB, et al. Intellectual development and familial dysautonomia. Pediatrics. May 1979;63(5):708-12. [Medline].

  15. Axelrod FB, Iyer K, Fish I, et al. Progressive sensory loss in familial dysautonomia. Pediatrics. Apr 1981;67(4):517-22. [Medline].

  16. Blumenfeld A, Slaugenhaupt SA, Axelrod FB, et al. Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nat Genet. Jun 1993;4(2):160-4. [Medline].

  17. Axelrod FB, Liebes L, Gold-Von Simson G, Mendoza S, Mull J, Leyne M, et al. Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia. Pediatr Res. Nov 2011;70(5):480-3. [Medline]. [Full Text].

  18. Cohen-Kupiec R, Pasmanik-Chor M, Oron-Karni V, Weil M. Effects of IKAP/hELP1 deficiency on gene expression in differentiating neuroblastoma cells: implications for familial dysautonomia. PLoS One. Apr 29 2011;6(4):e19147. [Medline]. [Full Text].

  19. Axelrod FB, Goldstein DS, Holmes C, et al. Pattern of plasma levels of catecholamines in familial dysautonomia. Clin Auton Res. Aug 1996;6(4):205-9. [Medline].

  20. Axelrod FB, Goldberg JD, Rolnitzky L, et al. Fludrocortisone in patients with familial dysautonomia--assessing effect on clinical parameters and gene expression. Clin Auton Res. Aug 2005;15(4):284-91. [Medline].

  21. Diamond GA, D'Amico RA, Axelrod FB. Optic nerve dysfunction in familial dysautonomia. Am J Ophthalmol. Dec 15 1987;104(6):645-8. [Medline].

  22. Mendoza-Santiesteban CE, Hedges TR 3rd, Norcliffe-Kaufmann L, Warren F, Reddy S, Axelrod FB, et al. Clinical Neuro-ophthalmic Findings in Familial Dysautonomia. J Neuroophthalmol. Sep 13 2011;[Medline].

  23. Bernardi L, Hilz M, Stemper B, et al. Respiratory and cerebrovascular responses to hypoxia and hypercapnia in familial dysautonomia. Am J Respir Crit Care Med. Jan 15 2003;167(2):141-9. [Medline].

  24. Maayan C, Carley DW, Axelrod FB, et al. Respiratory system stability and abnormal carbon dioxide homeostasis. J Appl Physiol. Mar 1992;72(3):1186-93. [Medline].

  25. Pflugfelder SC. Antiinflammatory therapy for dry eye. Am J Ophthalmol. Feb 2004;137(2):337-42. [Medline].

  26. Anderson SL, Qiu J, Rubin BY. Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia. Biochem Biophys Res Commun. Jun 20 2003;306(1):303-9. [Medline].

  27. Ilsar M, Hartstein ME, Maayan C. Punctal occlusion in patients with familial dysautonomia. Ann Ophthalmology. 1998;30(6):375-378.

  28. Gungor I, Schor K, Rosenthal P, et al. The Boston Scleral Lens in the treatment of pediatric patients. J AAPOS. Jun 2008;12(3):263-7. [Medline].

  29. Bonini S, Lambiase A, Rama P, et al. Topical treatment with nerve growth factor for neurotrophic keratitis. Ophthalmology. Jul 2000;107(7):1347-51; discussion 1351-2. [Medline].

  30. Matsumoto Y, Dogru M, Goto E, et al. Autologous serum application in the treatment of neurotrophic keratopathy. Ophthalmology. Jun 2004;111(6):1115-20. [Medline].

  31. Chen HJ, Pires RT, Tseng SC. Amniotic membrane transplantation for severe neurotrophic corneal ulcers. Br J Ophthalmol. Aug 2000;84(8):826-33. [Medline]. [Full Text].

  32. Tseng SC, Espana EM, Kawakita T, et al. How does amniotic membrane work?. Ocul Surf. Jul 2004;2(3):177-87. [Medline].

  33. Ghinelli E. The Riley-Day syndrome. Arch Ophthalmol. Dec 1968;80(6):732-43.

  34. Dohlman C, Waller S, Netland P. Keratoprosthesis Surgery. In: Lindquist T, Lindstrom R, eds. Ophthalmic Surgery. Vol L. 1996:1-32.

  35. Ngai J, Kreynin I, Kim JT, et al. Anesthesia management of familial dysautonomia. Paediatr Anaesth. Jun 2006;16(6):611-20. [Medline].

  36. AMX: Extract of human amniotic membrane. Presented at Italian Ocular Surface Society, Venice, Italy, June 2005.

  37. Aragona P, Papa V, Micali A, et al. Long term treatment with sodium hyaluronate-containing artificial tears reduces ocular surface damage in patients with dry eye. Br J Ophthalmol. Feb 2002;86(2):181-4. [Medline].

  38. Axelrod FB. Familial dysautonomia. In: Burg FD, Ingelfinger JR, Polin RA, eds. Current Pediatric Therapy. 15th ed. Philadelphia, Pa: WB Saunders Co; 1996:91-94.

  39. Axelrod FB. Familial dysautonomia: a review of the current pharmacological treatments. Expert Opin Pharmacother. Apr 2005;6(4):561-7. [Medline].

  40. Cappellari M, Cavallaro T, Ferrarini M, Cabrini I, Taioli F, Ferrari S, et al. Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. J Peripher Nerv Syst. Jun 2011;16(2):119-29. [Medline].

  41. Kojima T, Ishida R, Dogru M, et al. The effect of autologous serum eyedrops in the treatment of severe dry eye disease: a prospective randomized case-control study. Am J Ophthalmol. Feb 2005;139(2):242-6. [Medline].

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