Longitudinal changes in the macula and optic nerve in familial dysautonomia
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Longitudinal changes in the macula and optic nerve in familial dysautonomia Jonathan Kfir1 · Mengfei Wu1,2 · Mengling Liu1,2,3 · Leela Raju1 · Joel S. Schuman1,4,5 · Hiroshi Ishikawa1,5 · Isabel M. Vanegas6 · Carlos E. Mendoza‑Santiesteban6,7 · Jose‑Alberto Palma6 · Lucy Norcliffe‑Kaufmann6 · Barr Morgenstein6 · Horacio Kaufmann6 · Gadi Wollstein1,4,5 Received: 1 September 2020 / Revised: 29 October 2020 / Accepted: 1 November 2020 © Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Objective Familial Dysautonomia (FD) disease, lacks a useful biomarker for clinical monitoring. In this longitudinal study we characterized the structural changes in the macula, peripapillary and the optic nerve head (ONH) regions in subjects with FD. Methods Data was consecutively collected from subjects attending the FD clinic between 2012 and 2019. All subjects were imaged with spectral-domain Optical Coherence Tomography (OCT). Global and sectoral measurements of mean retinal nerve fiber layer (RNFL) and macular ganglion cell and inner plexiform layer (GCIPL) thickness, and ONH parameters of rim area, average cup-to-disc (C:D) ratio, and cup volume were used for the analysis. The best fit models (linear, quadratic and broken stick linear model) were used to describe the longitudinal change in each of the parameters. Results 91 subjects (149 eyes) with FD of ages 5–56 years were included in the analysis. The rate of change for average RNFL and average GCIPL thicknesses were significant before reaching a plateau at the age of 26.2 for RNFL and 24.8 for GCIPL (− 0.861 µm/year (95% CI − 1.026, − 0.693) and − 0.553 µm/year (95% CI − 0.645, − 0.461), respectively). Significant linear rate of progression was noted for all ONH parameters, except for a subset of subjects (24%), with no cupping that did not show progression in any of the ONH parameters. Conclusions The rapidly declining RNFL and GCIPL can explain the progressive visual impairment previously reported in these subjects. Among all structural parameters, ONH parameters might be most suitable for longitudinal follow-up, in eyes with a measurable cup. Keywords Familial dysautonomia · Hereditary optic neuropathy · Optical coherance tomography
Introduction * Joel S. Schuman [email protected] 1
Department of Ophthalmology, NYU Langone Health, 222 East 41 St., New York, NY 10017, USA
2
Department of Population Health, NYU Langone Health, New York, NY, USA
3
Department of Environmental Medicine, NYU Langone Health, New York, NY, USA
4
Center for Neural Science, NYU, New York, NY, USA
5
Department of Biomedical Engineering, NYU Tandon School of Engineering, New York, NY, USA
6
Department of Neurology, NYU Langone Health, New York, NY, USA
7
Bascom Palmer Eye Institute, University of Miami, Miami, FL, USA
Familial Dysautonomia (FD) is an incurable, recessively inherited, autonomic and sensory neuropathy, characterized by low levels of the ELP1 protein (previously known as IKAP), affecting the development a
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