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dc.contributor.authorvan Huet, Ramon A. C.
dc.contributor.authorSiemiatkowska, Anna M.
dc.contributor.authorOzgul, Riza K.
dc.contributor.authorYucel, Didem
dc.contributor.authorHoyng, Carel B.
dc.contributor.authorBanin, Eyal
dc.contributor.authorBlumenfeld, Anat
dc.contributor.authorRotenstreich, Ygal
dc.contributor.authorRiemslag, Frans C. C.
dc.contributor.authorden Hollander, Anneke I.
dc.contributor.authorTheelen, Thomas
dc.contributor.authorCollin, Rob W. J.
dc.contributor.authorvan den Born, L. Ingeborgh
dc.contributor.authorKlevering, B. Jeroen
dc.date.accessioned2020-02-14T17:55:07Z
dc.date.available2020-02-14T17:55:07Z
dc.date.issued2015
dc.identifier.issn1755-375X
dc.identifier.urihttps://doi.org/10.1111/aos.12500
dc.identifier.urihttp://hdl.handle.net/11655/22096
dc.description.abstractPurpose: Defects in MAK, encoding a protein localized to the photoreceptor connecting cilium, have recently been associated with autosomal recessive retinitis pigmentosa (RP). The aim of this study is to describe our detailed clinical observations in patients with MAK-associated RP, including an assessment of syndromic symptoms frequently observed in ciliopathies. Methods: In this international collaborative study, 11 patients carrying nonsense or missense mutations in MAK were clinically evaluated, including extensive assessment of the medical history, slit-lamp biomicroscopy, ophthalmoscopy, kinetic perimetry, electroretinography (ERG), spectral-domain optical coherence tomography (SD-OCT), autofluorescence imaging and fundus photography. Additionally, we used a questionnaire to evaluate the presence of syndromic features and tested the olfactory function. Results: MAK-associated RP is not associated with syndromic features, not even with subclinical dysfunction of the olfactory apparatus. All patients experienced typical RP symptoms of night blindness followed by visual field constriction. Symptoms initiated between childhood and the age of 43 (mean: 23 years). Although some patients experienced vision loss, the visual acuity remained normal in most patients. ERG and ophthalmoscopy revealed classic RP characteristics, and SD-OCT demonstrated thinning of the overall retina, outer nuclear layer and photoreceptor-pigment epithelium complex. Conclusion: Nonsense and missense mutations in MAK give rise to a non-syndromic recessive RP phenotype without apparent extra-ocular features. When compared to other retinal ciliopathies, MAK-associated RP appears to be relatively mild and shows remarkable resemblance to RP1-associated RP, which could be explained by the close functional relation of these proteins.tr_TR
dc.language.isoentr_TR
dc.publisherWileytr_TR
dc.relation.isversionof10.1111/aos.12500tr_TR
dc.rightsinfo:eu-repo/semantics/openAccesstr_TR
dc.subjectClinical variabilitytr_TR
dc.subjectMAKtr_TR
dc.subjectNon-syndromictr_TR
dc.subjectRetinitis pigmentosatr_TR
dc.subject.lcshSağlıktr_TR
dc.titleRetinitis Pigmentosa Caused By Mutations in the Ciliary MAK Gene is Relatively Mild and is not Associated with Apparent Extra-Ocular Featurestr_TR
dc.typeinfo:eu-repo/semantics/articletr_TR
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalActa Ophthalmologicatr_TR
dc.contributor.departmentPediatrik Temel Bilimlertr_TR
dc.identifier.volume93tr_TR
dc.identifier.issue1tr_TR
dc.identifier.startpage83tr_TR
dc.identifier.endpage94tr_TR
dc.indexingWoStr_TR
dc.fundingYoktr_TR


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