Clinical Neuro-ophthalmic Findings in Familial Dysautonomia

Mendoza-Santiesteban, Carlos E. MD; Hedges, Thomas R. III MD; Norcliffe-Kaufmann, Lucy PhD; Warren, Floyd MD; Reddy, Shantan MD; Axelrod, Felicia B. MD; Kaufmann, Horacio MD

Journal of Neuro-Ophthalmology: March 2012 - Volume 32 - Issue 1 - p 23–26
doi: 10.1097/WNO.0b013e318230feab
Original Contribution

Background: To define the clinical neuro-ophthalmic abnormalities of patients with familial dysautonomia (FD).

Methods: Sixteen patients (32 eyes) with the clinical and molecular diagnoses of FD underwent thorough neuro-ophthalmic clinical evaluation.

Results: Visual acuity ranged from 0.05 to 1.0 decimal units and was reduced in 15 of 16 patients. Mild to moderate corneal opacities were found in most patients but were visually significant in only 2 eyes. Red-green color vision was impaired in almost all cases. Depression of the central visual fields was present on automated visual fields in all patients, even in those with normal visual acuity. Temporal optic nerve pallor was present in all cases and was associated with retinal nerve fiber layer loss in the papillomacular region. Various ocular motility abnormalities also were observed.

Conclusion: Patients with FD have a specific type of optic neuropathy with predominant loss of papillomacular nerve fibers, a pattern similar to other hereditary optic neuropathies caused by mutations either in nuclear or in mitochondrial DNA, affecting mitochondrial protein function. Defects of eye movements, particularly saccades, also appear to be a feature of patients with FD.

Dysautonomia Center (CEM-S, LN-K, FBA, HK), NYU Langone Medical Center, New York University, New York, New York

New England Eye Center (CEM-S, TRH), Tufts Medical Center, Tufts University, Boston, Massachusetts

Department of Ophthalmology (FW, SR), NYU Langone Medical Center, New York University, New York, New York.

Supported in part by the Dysautonomia Foundation, Inc, the National Institutes of Health (U54-NS065736-01), the Massachusetts Lions Clubs/Research to Prevent Blindness Challenge Grant, and the Carl Zeiss Meditec.

The authors report no conflicts of interest.

Address correspondence to Thomas R. Hedges, MD, New England Eye Center, Tufts Medical Center, Tufts University, 800 Washington Street, Box 450, Boston, MA 02111; E-mail:

© 2012 Lippincott Williams & Wilkins, Inc.