Clinical neuro-ophthalmic findings in familial dysautonomia

Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society
Carlos E Mendoza-SantiestebanHoracio Kaufmann

Abstract

To define the clinical neuro-ophthalmic abnormalities of patients with familial dysautonomia (FD). Sixteen patients (32 eyes) with the clinical and molecular diagnoses of FD underwent thorough neuro-ophthalmic clinical evaluation. 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. 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.

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Citations

Aug 28, 2012·Human Molecular Genetics·Paula DietrichIoannis Dragatsis
Mar 22, 2013·Human Molecular Genetics·Ron BochnerGil Ast
Jul 24, 2015·Muscle & Nerve·Horacio KaufmannHoracio Kaufmann
Feb 4, 2014·Journal of Neurology·Carlos E Mendoza-SantiestebanHoracio Kaufmann
Oct 18, 2014·Expert Opinion on Pharmacotherapy·Horacio KaufmannHoracio Kaufmann
Jun 19, 2016·Progress in Neurobiology·Lucy Norcliffe-KaufmannHoracio Kaufmann
Aug 26, 2016·Genetics and Molecular Biology·Paula Dietrich, Ioannis Dragatsis
Jan 1, 2016·Current Opinion in Ophthalmology·Louis R Pasquale
Jul 17, 2014·Current Opinion in Ophthalmology·Richard C Allen
Apr 13, 2017·Journal of Neurology·Carlos E Mendoza-SantiestebanHoracio Kaufmann
Dec 9, 2016·Neuro-ophthalmology·Rosaralis Santiesteban-FreixasCarlos E Mendoza-Santiesteban
Apr 26, 2017·Proceedings of the National Academy of Sciences of the United States of America·Sarah B OhlenFrances Lefcort
Apr 11, 2017·Journal of Neuropathology and Experimental Neurology·Carlos E Mendoza-SantiestebanHoracio Kaufmann
Sep 14, 2018·The New England Journal of Medicine·C Maayan, Samuel N Heyman
Sep 22, 2020·Journal of Neuropathology and Experimental Neurology·Sarah Jacot-DescombesPatrick R Hof
Jul 2, 2017·Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society·Frances LefcortLynn George
Nov 13, 2020·Journal of Neurology·Jonathan KfirGadi Wollstein

Related Concepts

Teens
Diagnostic Techniques, Ophthalmological
Dysautonomia, Familial
Neurologic Examination
Visual Impairment
Optic Tract Structure
Mental Depression
DNA
Dysautonomia
Eye

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