eMedicine Specialties > Ophthalmology > Genetic Disorders

Familial Dysautonomia: Follow-up

Author: Robert A D'Amico, MD, Chairman, Department of Ophthalmology, Department of Ophthalmology, St Vincent's Hospital and Medical Center; Clinical Professor, New York University School of Medicine
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
Contributor Information and Disclosures

Updated: Dec 8, 2008

Follow-up

Further Outpatient Care

  • At New York University Medical Center, a Dysautonomia Treatment and Evaluation Center examines patients with familial dysautonomia (FD) on a regular schedule to provide comprehensive care plans. It serves as a resource for patients, families, and health providers.

Deterrence/Prevention

  • No means of preventing the disorder exists at this time, but with symptomatic and supportive treatments, morbidity and mortality have been reduced and quality of life enhanced.

Prognosis

  • Educate parents and patients regarding daily eye care and early warning signs of corneal problems, as well as use of punctal cautery. This education has resulted in decreased corneal scarring and need for more aggressive surgical measures, such as tarsorrhaphy, conjunctival flaps, and corneal transplants.

Patient Education

  • Teach patients and parents to instill topical lubricants frequently and to be alert for early warning signs of corneal erosion and infection.
  • Use eye protective devices (eg, goggles, moisture chambers) when topical medications are not sufficient.

Miscellaneous

Medicolegal Pitfalls

  • Advise parents with Ashkenazi Jewish ancestry of availability of prenatal screening
  • Highly suspected in strong family history
 


More on Familial Dysautonomia

Overview: Familial Dysautonomia
Differential Diagnoses & Workup: Familial Dysautonomia
Treatment & Medication: Familial Dysautonomia
Follow-up: Familial Dysautonomia
Multimedia: Familial Dysautonomia
References
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References

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Further Reading

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Keywords

familial dysautonomia, Riley-Day syndrome, hereditary sensory and autonomic neuropathy type 3, FD, lack of tears, vision loss, dysautonomic crises

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Contributor Information and Disclosures

Author

Robert A D'Amico, MD, Chairman, Department of Ophthalmology, Department of Ophthalmology, St Vincent's Hospital and Medical Center; Clinical Professor, New York University School of Medicine
Robert A D'Amico, MD 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.

Medical Editor

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.

Pharmacy Editor

Simon K Law, MD, PharmD, Assistant Professor of Ophthalmology, Jules Stein Eye Institute; Chief of Section of Ophthalmology Surgical Services, Department of Veterans Affairs Healthcare Center, West Los Angeles
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.

Managing Editor

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.

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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