Selective retinal ganglion cell loss in familial dysautonomia

To define the retinal phenotype of subjects with familial dysautonomia (FD). A cross-sectional study was carried out in 90 subjects divided in three groups of 30 each (FD subjects, asymptomatic carriers and controls). The study was developed at the Dysautonomia Center, New York University Medical Ce...

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Bibliographic Details
Published in:Journal of neurology 2014-04, Vol.261 (4), p.702-709
Main Authors: Mendoza-Santiesteban, Carlos E., Hedges III, Thomas R., Norcliffe-Kaufmann, Lucy, Axelrod, Felicia, Kaufmann, Horacio
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age
Aged
Aging - pathology
Asymptomatic
Child
Child, Preschool
Cornea
Cross-Sectional Studies
Dysautonomia, Familial - pathology
Evoked Potentials, Visual
Female
Genotype & phenotype
Humans
Infant
Kinases
Male
Medicine
Medicine & Public Health
Middle Aged
Mutation
Neurology
Neuroradiology
Neurosciences
Optic nerve
Optics
Original Communication
Pupil
Retinal Ganglion Cells - pathology
Statistical analysis
Tomography
Tomography, Optical Coherence
Vision Tests
Visual acuity
Young Adult
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Summary:To define the retinal phenotype of subjects with familial dysautonomia (FD). A cross-sectional study was carried out in 90 subjects divided in three groups of 30 each (FD subjects, asymptomatic carriers and controls). The study was developed at the Dysautonomia Center, New York University Medical Center. All subjects underwent spectral domain optical coherence tomography (OCT) and full neuro-ophthalmic examinations. In a subset of affected subjects, visual evoked potentials and microperimetry were also obtained. We compared the retinal nerve fiber layer (RNFL) thickness from OCT between the three groups. OCT showed loss of the RNFL in all FD subjects predominantly in the maculopapillary region (63 % temporally, p  
ISSN:0340-5354
1432-1459
DOI:10.1007/s00415-014-7258-2