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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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| Published in: | Journal of neurology 2014-04, Vol.261 (4), p.702-709 |
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| container_title | Journal of neurology |
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| creator | Mendoza-Santiesteban, Carlos E. Hedges III, Thomas R. Norcliffe-Kaufmann, Lucy Axelrod, Felicia Kaufmann, Horacio |
| description | 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
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| doi_str_mv | 10.1007/s00415-014-7258-2 |
| format | article |
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p
< 0.0001; and 21 % nasally,
p
< 0.005). RNFL loss was greatest in older FD subjects and was associated with decreased visual acuity and color vision, central visual field defects, temporal optic nerve pallor, and delayed visual evoked potentials. Asymptomatic carriers of the FD gene mutation all had thinner RNFL (12 % globally,
p
< 0.005). OCT and clinical neuro-ophthalmological findings suggest that maculopapillary ganglion cells are primarily affected in FD subjects, leading to a specific optic nerve damage that closely resembles mitochondrial optic neuropathies. This raises the possibility that reduced IKAP levels may affect mitochondrial proteins and their function in the nervous system, particularly in the retina.</description><identifier>ISSN: 0340-5354</identifier><identifier>EISSN: 1432-1459</identifier><identifier>DOI: 10.1007/s00415-014-7258-2</identifier><identifier>PMID: 24487827</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>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</subject><ispartof>Journal of neurology, 2014-04, Vol.261 (4), p.702-709</ispartof><rights>Springer-Verlag Berlin Heidelberg 2014</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c405t-3de96a470667b1cbaebc1ab859728370ffd2c0cf5519b1d9402362963e3243c53</citedby><cites>FETCH-LOGICAL-c405t-3de96a470667b1cbaebc1ab859728370ffd2c0cf5519b1d9402362963e3243c53</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27923,27924</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24487827$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mendoza-Santiesteban, Carlos E.</creatorcontrib><creatorcontrib>Hedges III, Thomas R.</creatorcontrib><creatorcontrib>Norcliffe-Kaufmann, Lucy</creatorcontrib><creatorcontrib>Axelrod, Felicia</creatorcontrib><creatorcontrib>Kaufmann, Horacio</creatorcontrib><title>Selective retinal ganglion cell loss in familial dysautonomia</title><title>Journal of neurology</title><addtitle>J Neurol</addtitle><addtitle>J Neurol</addtitle><description>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
< 0.0001; and 21 % nasally,
p
< 0.005). RNFL loss was greatest in older FD subjects and was associated with decreased visual acuity and color vision, central visual field defects, temporal optic nerve pallor, and delayed visual evoked potentials. Asymptomatic carriers of the FD gene mutation all had thinner RNFL (12 % globally,
p
< 0.005). OCT and clinical neuro-ophthalmological findings suggest that maculopapillary ganglion cells are primarily affected in FD subjects, leading to a specific optic nerve damage that closely resembles mitochondrial optic neuropathies. This raises the possibility that reduced IKAP levels may affect mitochondrial proteins and their function in the nervous system, particularly in the retina.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Age</subject><subject>Aged</subject><subject>Aging - pathology</subject><subject>Asymptomatic</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Cornea</subject><subject>Cross-Sectional Studies</subject><subject>Dysautonomia, Familial - pathology</subject><subject>Evoked Potentials, Visual</subject><subject>Female</subject><subject>Genotype & phenotype</subject><subject>Humans</subject><subject>Infant</subject><subject>Kinases</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Neurology</subject><subject>Neuroradiology</subject><subject>Neurosciences</subject><subject>Optic nerve</subject><subject>Optics</subject><subject>Original Communication</subject><subject>Pupil</subject><subject>Retinal Ganglion Cells - pathology</subject><subject>Statistical analysis</subject><subject>Tomography</subject><subject>Tomography, Optical Coherence</subject><subject>Vision Tests</subject><subject>Visual acuity</subject><subject>Young Adult</subject><issn>0340-5354</issn><issn>1432-1459</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><recordid>eNqNkUtLxDAUhYMozjj6A9xIwY2b6s2rSRcuZPAFAy7UdUjTdMjQx5i0wvx7U2cUEQRXd3G-e-7lHIROMVxiAHEVABjmKWCWCsJlSvbQFDNKUsx4vo-mQBmknHI2QUchrABARuEQTQhjUkgipuj62dbW9O7dJt72rtV1stTtsnZdmxhb10ndhZC4Nql042oX5XIT9NB3bdc4fYwOKl0He7KbM_R6d_syf0gXT_eP85tFahjwPqWlzTPNBGSZKLAptC0M1oXkuSCSCqiqkhgwFec4L3CZMyA0I3lGLSWMGk5n6GLru_bd22BDrxoXxvd0a7shKMxxJriUmP4HpcCBZSKi57_QVTf4GMEnRbAkIEcKbynjYxTeVmrtXaP9RmFQYw1qW4OKNaixBkXiztnOeSgaW35vfOUeAbIFQpTapfU_Tv_p-gGEV5Ag</recordid><startdate>20140401</startdate><enddate>20140401</enddate><creator>Mendoza-Santiesteban, Carlos E.</creator><creator>Hedges III, Thomas R.</creator><creator>Norcliffe-Kaufmann, Lucy</creator><creator>Axelrod, Felicia</creator><creator>Kaufmann, Horacio</creator><general>Springer Berlin Heidelberg</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>20140401</creationdate><title>Selective retinal ganglion cell loss in familial dysautonomia</title><author>Mendoza-Santiesteban, Carlos E. ; Hedges III, Thomas R. ; Norcliffe-Kaufmann, Lucy ; Axelrod, Felicia ; Kaufmann, Horacio</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c405t-3de96a470667b1cbaebc1ab859728370ffd2c0cf5519b1d9402362963e3243c53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Age</topic><topic>Aged</topic><topic>Aging - pathology</topic><topic>Asymptomatic</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Cornea</topic><topic>Cross-Sectional Studies</topic><topic>Dysautonomia, Familial - pathology</topic><topic>Evoked Potentials, Visual</topic><topic>Female</topic><topic>Genotype & phenotype</topic><topic>Humans</topic><topic>Infant</topic><topic>Kinases</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Neurology</topic><topic>Neuroradiology</topic><topic>Neurosciences</topic><topic>Optic nerve</topic><topic>Optics</topic><topic>Original Communication</topic><topic>Pupil</topic><topic>Retinal Ganglion Cells - pathology</topic><topic>Statistical analysis</topic><topic>Tomography</topic><topic>Tomography, Optical Coherence</topic><topic>Vision Tests</topic><topic>Visual acuity</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mendoza-Santiesteban, Carlos E.</creatorcontrib><creatorcontrib>Hedges III, Thomas R.</creatorcontrib><creatorcontrib>Norcliffe-Kaufmann, Lucy</creatorcontrib><creatorcontrib>Axelrod, Felicia</creatorcontrib><creatorcontrib>Kaufmann, Horacio</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mendoza-Santiesteban, Carlos E.</au><au>Hedges III, Thomas R.</au><au>Norcliffe-Kaufmann, Lucy</au><au>Axelrod, Felicia</au><au>Kaufmann, Horacio</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Selective retinal ganglion cell loss in familial dysautonomia</atitle><jtitle>Journal of neurology</jtitle><stitle>J Neurol</stitle><addtitle>J Neurol</addtitle><date>2014-04-01</date><risdate>2014</risdate><volume>261</volume><issue>4</issue><spage>702</spage><epage>709</epage><pages>702-709</pages><issn>0340-5354</issn><eissn>1432-1459</eissn><abstract>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
< 0.0001; and 21 % nasally,
p
< 0.005). RNFL loss was greatest in older FD subjects and was associated with decreased visual acuity and color vision, central visual field defects, temporal optic nerve pallor, and delayed visual evoked potentials. Asymptomatic carriers of the FD gene mutation all had thinner RNFL (12 % globally,
p
< 0.005). OCT and clinical neuro-ophthalmological findings suggest that maculopapillary ganglion cells are primarily affected in FD subjects, leading to a specific optic nerve damage that closely resembles mitochondrial optic neuropathies. This raises the possibility that reduced IKAP levels may affect mitochondrial proteins and their function in the nervous system, particularly in the retina.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>24487827</pmid><doi>10.1007/s00415-014-7258-2</doi><tpages>8</tpages></addata></record> |
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| 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 |
| title | Selective retinal ganglion cell loss in familial dysautonomia |
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