Longitudinal changes in the macula and optic nerve in familial dysautonomia

[1]  Katie A. Lucy,et al.  Can Macula and Optic Nerve Head Parameters Detect Glaucoma Progression in Eyes with Advanced Circumpapillary Retinal Nerve Fiber Layer Damage? , 2018, Ophthalmology.

[2]  S. Slaugenhaupt,et al.  Familial dysautonomia: History, genotype, phenotype and translational research , 2017, Progress in Neurobiology.

[3]  N. Laver,et al.  Pathological Confirmation of Optic Neuropathy in Familial Dysautonomia , 2017, Journal of neuropathology and experimental neurology.

[4]  Gadi Wollstein,et al.  Clinical Utility of Optical Coherence Tomography in Glaucoma , 2016, Investigative ophthalmology & visual science.

[5]  Jean-Claude Mwanza,et al.  Residual and Dynamic Range of Retinal Nerve Fiber Layer Thickness in Glaucoma: Comparison of Three OCT Platforms. , 2015, Investigative ophthalmology & visual science.

[6]  Jean-Claude Mwanza,et al.  Retinal nerve fibre layer thickness floor and corresponding functional loss in glaucoma , 2014, British Journal of Ophthalmology.

[7]  C. Leung.  Diagnosing glaucoma progression with optical coherence tomography. , 2014, Current opinion in ophthalmology.

[8]  T. R. Hedges III,et al.  Selective retinal ganglion cell loss in familial dysautonomia , 2014, Journal of Neurology.

[9]  A. Celebi,et al.  Age-related change in retinal nerve fiber layer thickness measured with spectral domain optical coherence tomography. , 2013, Investigative ophthalmology & visual science.

[10]  V. Macefield,et al.  Relationship between proprioception at the knee joint and gait ataxia in HSAN III , 2013, Movement disorders : official journal of the Movement Disorder Society.

[11]  V. Macefield,et al.  Cardiac‐locked bursts of muscle sympathetic nerve activity are absent in familial dysautonomia , 2013, The Journal of physiology.

[12]  H. Kaufmann,et al.  Familial dysautonomia (Riley–Day syndrome): When baroreceptor feedback fails , 2012, Autonomic Neuroscience.

[13]  Axel Petzold,et al.  The OSCAR-IB Consensus Criteria for Retinal OCT Quality Assessment , 2012, PloS one.

[14]  H. Kaufmann,et al.  Clinical Neuro-ophthalmic Findings in Familial Dysautonomia , 2012, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

[15]  L. Pablo,et al.  Normal reference ranges of optical coherence tomography parameters in childhood , 2012, British Journal of Ophthalmology.

[16]  Youngrok Lee,et al.  Progression detection capability of macular thickness in advanced glaucomatous eyes. , 2012, Ophthalmology.

[17]  V. Macefield,et al.  Can loss of muscle spindle afferents explain the ataxic gait in Riley-Day syndrome? , 2011, Brain : a journal of neurology.

[18]  P. Chinnery,et al.  Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies , 2011, Progress in Retinal and Eye Research.

[19]  H. Kaufmann,et al.  Afferent baroreflex failure in familial dysautonomia , 2010, Neurology.

[20]  J. D. de Boer,et al.  Reproducibility of Retinal Nerve Fiber Layer Thickness Measurements Using Spectral Domain Optical Coherence Tomography , 2010, Journal of glaucoma.

[21]  N. Newman,et al.  The neuro-ophthalmology of mitochondrial disease. , 2010, Survey of ophthalmology.

[22]  James G Fujimoto,et al.  Optical coherence tomography: a window into the mechanisms of multiple sclerosis , 2008, Nature Clinical Practice Neurology.

[23]  P. Garcia-Filion,et al.  The syndrome of optic nerve hypoplasia , 2008, Current neurology and neuroscience reports.

[24]  R. Desnick,et al.  Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews. , 2002, American journal of medical genetics.

[25]  J. Fujimoto,et al.  Optical Coherence Tomography , 1991, LEOS '92 Conference Proceedings.

[26]  J. Jonas,et al.  Optic disc, cup and neuroretinal rim size, configuration and correlations in normal eyes. , 1988, Investigative ophthalmology & visual science.

[27]  R. Jennrich,et al.  Unbalanced repeated-measures models with structured covariance matrices. , 1986, Biometrics.

[28]  J. Pearson,et al.  Progressive sensory loss in familial dysautonomia. , 1981, Pediatrics.

[29]  V. C. Rambo.  OCULAR MANIFESTATIONS OF RILEY-DAY SYNDROME: FAMILIAL AUTONOMIC DYSFUNCTION , 1958 .

[30]  S. Liebman.  Ocular manifestations of Riley-Day syndrome; familial autonomic dysfunction. , 1956, A.M.A. archives of ophthalmology.

[31]  I. Kroop.  The production of tears in familial dysautonomia , 1956 .

[32]  R. Day,et al.  Central autonomic dysfunction with defective lacrimation; report of five cases. , 1949, Pediatrics.

[33]  Riley Cm,et al.  Central autonomic dysfunction with defective lacrimation; report of five cases. , 1949 .

[34]  Cathleen A Josaitis,et al.  Familial dysautonomia in review: diagnosis and treatment of ocular manifestations. , 2002, Advances in experimental medicine and biology.

[35]  P. Win,et al.  Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve. , 2000, Transactions of the American Ophthalmological Society.

[36]  M D Schluchter,et al.  Analysis of incomplete multivariate data using linear models with structured covariance matrices. , 1988, Statistics in medicine.

[37]  I. Kroop.  The production of tears in familial dysautonomia; preliminary report. , 1956, The Journal of pediatrics.