Universität zu Köln

Birtel, Johannes, Gliem, Martin, Mangold, Elisabeth, Tebbe, Lars, Spier, Isabel, Muller, Philipp L., Holz, Frank G., Neuhaus, Christine, Wolfruni, Uwe, Bolz, Hanno J. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2017). Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy. Invest. Ophthalmol. Vis. Sci., 58 (10). S. 3950 - 3960. ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

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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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Birtel, Johannes UNSPECIFIED UNSPECIFIED UNSPECIFIED Gliem, Martin UNSPECIFIED UNSPECIFIED UNSPECIFIED Mangold, Elisabeth UNSPECIFIED UNSPECIFIED UNSPECIFIED Tebbe, Lars UNSPECIFIED UNSPECIFIED UNSPECIFIED Spier, Isabel UNSPECIFIED UNSPECIFIED UNSPECIFIED Muller, Philipp L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Holz, Frank G. UNSPECIFIED UNSPECIFIED UNSPECIFIED Neuhaus, Christine UNSPECIFIED UNSPECIFIED UNSPECIFIED Wolfruni, Uwe UNSPECIFIED UNSPECIFIED UNSPECIFIED Bolz, Hanno J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Issa, Peter Charbel UNSPECIFIED orcid.org/0000-0002-0351-6673 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-224091
DOI:	10.1167/iovs.17-21679
Journal or Publication Title:	Invest. Ophthalmol. Vis. Sci.
Volume:	58
Number:	10
Page Range:	S. 3950 - 3960
Date:	2017
Publisher:	ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Place of Publication:	ROCKVILLE
ISSN:	1552-5783
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language MENTAL RETARDATION SYNDROME; KIF11 MUTATIONS; MICROTUBULE ORGANIZATION; CONGENITAL LYMPHEDEMA; CHORIORETINOPATHY; KINESIN; EG5; REGULATORS; DYSTROPHY; STEP Multiple languages Ophthalmology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/22409