Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy

Publication type:
Journal article
Metadata:
Autoren
  • Johannes Birtel
  • Martin Gliem
  • Elisabeth Mangold
  • Lars Tebbe
  • Isabel Spier
  • Philipp L Muller
  • Frank G Holz
  • Christine Neuhaus
  • Uwe Wolfruni
  • Hanno J Bolz
  • Peter Charbel Issa
Autoren-URL
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=fis-test-1&SrcAuth=WosAPI&KeyUT=WOS:000410940400012&DestLinkType=FullRecord&DestApp=WOS_CPL
DOI
10.1167/iovs.17-21679
eISSN
1552-5783
Externe Identifier
  • Clarivate Analytics Document Solution ID: FH2AG
  • PubMed Identifier: 28785766
ISSN
0146-0404
Ausgabe der Veröffentlichung
10
Zeitschrift
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Schlüsselwörter
  • KIF11
  • next-generation sequencing
  • retinal dystrophy
  • retinopathy
  • ciliopathy
Paginierung
3950 - 3959
Datum der Veröffentlichung
2017
Status
Published
Titel
Novel Insights Into the Phenotypical Spectrum of <i>KIF11</i>-Associated Retinopathy, Including a New Form of Retinal Ciliopathy
Sub types
  • Article
Ausgabe der Zeitschrift
58

Data source: Web of Science (Lite)

Other metadata sources:
Autoren
  • Johannes Birtel
  • Martin Gliem
  • Elisabeth Mangold
  • Lars Tebbe
  • Isabel Spier
  • Philipp L Müller
  • Frank G Holz
  • Christine Neuhaus
  • Uwe Wolfrum
  • Hanno J Bolz
  • Peter Charbel Issa
DOI
10.1167/iovs.17-21679
ISSN
1552-5783
Ausgabe der Veröffentlichung
10
Zeitschrift
Investigative Opthalmology &amp; Visual Science
Sprache
en
Paginierung
3950 - 3950
Datum der Veröffentlichung
2017
Status
Published
Herausgeber
Association for Research in Vision and Ophthalmology (ARVO)
Herausgeber URL
http://dx.doi.org/10.1167/iovs.17-21679
Datum der Datenerfassung
2017
Titel
Novel Insights Into the Phenotypical Spectrum of <i>KIF11</i>-Associated Retinopathy, Including a New Form of Retinal Ciliopathy
Ausgabe der Zeitschrift
58

Data source: Crossref

Abstract
<h4>Purpose</h4>This study sought to characterize the ophthalmic and extraocular phenotype in patients with known and novel KIF11 mutations.<h4>Methods</h4>Four patients (3, 5, 36, and 38 years of age, on father-daughter constellation) from three unrelated families were characterized by retinal examination including multimodal retinal imaging, investigation for syndromic disease manifestations, and targeted next-generation sequencing. The subcellular localization of Kif11 in the retina was analyzed by light and electron microcopy.<h4>Results</h4>There was considerable interindividual and intrafamilial phenotypic heterogeneity of KIF11-related retinopathy. Two patients presented with a progressive retinal dystrophy, one with chorioretinal dysplasia and one with familial exudative vitreoretinopathy (FEVR) in one eye and thinning of the photoreceptor layer in the fellow eye. Obvious syndromic disease manifestations were present only in the youngest patient, but minor signs (e.g. reduced head circumference) were present in the three other individuals. Immunohistochemistry results demonstrated Kif11 localization in the inner segment and ciliary compartments of photoreceptor cells and in the retinal pigment epithelium.<h4>Conclusions</h4>Progressive retinal degeneration in KIF11-related retinopathy indicates a role for KIF11 not only in ocular development but also in maintaining retinal morphology and function. The remarkable variability of the ocular phenotype suggests four different types of retinopathy which may overlap. KIF11 should be considered in the screening of patients with retinal dystrophies because other syndromic manifestations may be subtle. Evaluation of head circumference may be considered as a potential shortcut to the genetic diagnosis. The localization of Kif11 in photoreceptor cells indicates a retinal ciliopathy.
Addresses
  • Department of Ophthalmology, University of Bonn, Bonn, Germany.
Autoren
  • Johannes Birtel
  • Martin Gliem
  • Elisabeth Mangold
  • Lars Tebbe
  • Isabel Spier
  • Philipp L Müller
  • Frank G Holz
  • Christine Neuhaus
  • Uwe Wolfrum
  • Hanno J Bolz
  • Peter Charbel Issa
DOI
10.1167/iovs.17-21679
eISSN
1552-5783
Externe Identifier
  • PubMed Identifier: 28785766
Funding acknowledgements
  • National Institute for Health Research (NIHR):
Open access
false
ISSN
0146-0404
Ausgabe der Veröffentlichung
10
Zeitschrift
Investigative ophthalmology & visual science
Schlüsselwörter
  • Animals
  • Humans
  • Mice
  • Tomography, Optical Coherence
  • Fluorescein Angiography
  • Electroretinography
  • Blotting, Western
  • Pedigree
  • DNA Mutational Analysis
  • Genetic Counseling
  • Visual Acuity
  • Phenotype
  • Mutation
  • Adult
  • Child, Preschool
  • Female
  • Male
  • Photoreceptor Cells, Vertebrate
  • Retinal Dystrophies
  • Optical Imaging
  • Multimodal Imaging
  • Kinesins
Sprache
eng
Medium
Print
Paginierung
3950 - 3959
Datum der Veröffentlichung
2017
Status
Published
Publisher licence
CC BY-NC-ND
Datum der Datenerfassung
2017
Titel
Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy.
Sub types
  • Journal Article
Ausgabe der Zeitschrift
58

Data source: Europe PubMed Central

Abstract
PURPOSE: This study sought to characterize the ophthalmic and extraocular phenotype in patients with known and novel KIF11 mutations. METHODS: Four patients (3, 5, 36, and 38 years of age, on father-daughter constellation) from three unrelated families were characterized by retinal examination including multimodal retinal imaging, investigation for syndromic disease manifestations, and targeted next-generation sequencing. The subcellular localization of Kif11 in the retina was analyzed by light and electron microcopy. RESULTS: There was considerable interindividual and intrafamilial phenotypic heterogeneity of KIF11-related retinopathy. Two patients presented with a progressive retinal dystrophy, one with chorioretinal dysplasia and one with familial exudative vitreoretinopathy (FEVR) in one eye and thinning of the photoreceptor layer in the fellow eye. Obvious syndromic disease manifestations were present only in the youngest patient, but minor signs (e.g. reduced head circumference) were present in the three other individuals. Immunohistochemistry results demonstrated Kif11 localization in the inner segment and ciliary compartments of photoreceptor cells and in the retinal pigment epithelium. CONCLUSIONS: Progressive retinal degeneration in KIF11-related retinopathy indicates a role for KIF11 not only in ocular development but also in maintaining retinal morphology and function. The remarkable variability of the ocular phenotype suggests four different types of retinopathy which may overlap. KIF11 should be considered in the screening of patients with retinal dystrophies because other syndromic manifestations may be subtle. Evaluation of head circumference may be considered as a potential shortcut to the genetic diagnosis. The localization of Kif11 in photoreceptor cells indicates a retinal ciliopathy.
Autoren
  • Johannes Birtel
  • Martin Gliem
  • Elisabeth Mangold
  • Lars Tebbe
  • Isabel Spier
  • Philipp L Müller
  • Frank G Holz
  • Christine Neuhaus
  • Uwe Wolfrum
  • Hanno J Bolz
  • Peter Charbel Issa
Autoren-URL
https://www.ncbi.nlm.nih.gov/pubmed/28785766
DOI
10.1167/iovs.17-21679
eISSN
1552-5783
Funding acknowledgements
  • Department of Health:
Ausgabe der Veröffentlichung
10
Zeitschrift
Invest Ophthalmol Vis Sci
Schlüsselwörter
  • Adult
  • Animals
  • Blotting, Western
  • Child, Preschool
  • DNA Mutational Analysis
  • Electroretinography
  • Female
  • Fluorescein Angiography
  • Genetic Counseling
  • Humans
  • Kinesins
  • Male
  • Mice
  • Multimodal Imaging
  • Mutation
  • Optical Imaging
  • Pedigree
  • Phenotype
  • Photoreceptor Cells, Vertebrate
  • Retinal Dystrophies
  • Tomography, Optical Coherence
  • Visual Acuity
Sprache
eng
Country
United States
Paginierung
3950 - 3959
PII
2648196
Datum der Veröffentlichung
2017
Status
Published
Datum, an dem der Datensatz öffentlich gemacht wurde
2017
Titel
Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy.
Sub types
  • Journal Article
Ausgabe der Zeitschrift
58

Data source: PubMed

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