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

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Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy. / Birtel, Johannes; Gliem, Martin; Mangold, Elisabeth; Tebbe, Lars; Spier, Isabel; Müller, Philipp L; Holz, Frank G; Neuhaus, Christine; Wolfrum, Uwe; Bolz, Hanno J; Charbel Issa, Peter.

In: INVEST OPHTH VIS SCI, Vol. 58, No. 10, 01.08.2017, p. 3950-3959.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Birtel, J, Gliem, M, Mangold, E, Tebbe, L, Spier, I, Müller, PL, Holz, FG, Neuhaus, C, Wolfrum, U, Bolz, HJ & Charbel Issa, P 2017, 'Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy', INVEST OPHTH VIS SCI, vol. 58, no. 10, pp. 3950-3959. https://doi.org/10.1167/iovs.17-21679

APA

Birtel, J., Gliem, M., Mangold, E., Tebbe, L., Spier, I., Müller, P. L., Holz, F. G., Neuhaus, C., Wolfrum, U., Bolz, H. J., & Charbel Issa, P. (2017). Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy. INVEST OPHTH VIS SCI, 58(10), 3950-3959. https://doi.org/10.1167/iovs.17-21679

Vancouver

Birtel J, Gliem M, Mangold E, Tebbe L, Spier I, Müller PL et al. Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy. INVEST OPHTH VIS SCI. 2017 Aug 1;58(10):3950-3959. https://doi.org/10.1167/iovs.17-21679

Bibtex

@article{e587b7bdbe1f49f8b29bfc349bef178e,
title = "Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy",
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.",
keywords = "Adult, Animals, Blotting, Western, Child, Preschool, DNA Mutational Analysis, Electroretinography, Female, Fluorescein Angiography, Genetic Counseling, Humans, Kinesins/genetics, Male, Mice, Multimodal Imaging, Mutation, Optical Imaging, Pedigree, Phenotype, Photoreceptor Cells, Vertebrate/metabolism, Retinal Dystrophies/diagnosis, Tomography, Optical Coherence, Visual Acuity/physiology",
author = "Johannes Birtel and Martin Gliem and Elisabeth Mangold and Lars Tebbe and Isabel Spier and M{\"u}ller, {Philipp L} and Holz, {Frank G} and Christine Neuhaus and Uwe Wolfrum and Bolz, {Hanno J} and {Charbel Issa}, Peter",
year = "2017",
month = aug,
day = "1",
doi = "10.1167/iovs.17-21679",
language = "English",
volume = "58",
pages = "3950--3959",
journal = "INVEST OPHTH VIS SCI",
issn = "0146-0404",
publisher = "Association for Research in Vision and Ophthalmology Inc.",
number = "10",

}

RIS

TY - JOUR

T1 - Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy

AU - Birtel, Johannes

AU - Gliem, Martin

AU - Mangold, Elisabeth

AU - Tebbe, Lars

AU - Spier, Isabel

AU - Müller, Philipp L

AU - Holz, Frank G

AU - Neuhaus, Christine

AU - Wolfrum, Uwe

AU - Bolz, Hanno J

AU - Charbel Issa, Peter

PY - 2017/8/1

Y1 - 2017/8/1

N2 - 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.

AB - 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.

KW - Adult

KW - Animals

KW - Blotting, Western

KW - Child, Preschool

KW - DNA Mutational Analysis

KW - Electroretinography

KW - Female

KW - Fluorescein Angiography

KW - Genetic Counseling

KW - Humans

KW - Kinesins/genetics

KW - Male

KW - Mice

KW - Multimodal Imaging

KW - Mutation

KW - Optical Imaging

KW - Pedigree

KW - Phenotype

KW - Photoreceptor Cells, Vertebrate/metabolism

KW - Retinal Dystrophies/diagnosis

KW - Tomography, Optical Coherence

KW - Visual Acuity/physiology

U2 - 10.1167/iovs.17-21679

DO - 10.1167/iovs.17-21679

M3 - SCORING: Journal article

C2 - 28785766

VL - 58

SP - 3950

EP - 3959

JO - INVEST OPHTH VIS SCI

JF - INVEST OPHTH VIS SCI

SN - 0146-0404

IS - 10

ER -