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Deutman Researchfonds Oogheelkunde, Nijmegen, The Netherlands"},{"name":"Foundation Fighting Blindness USA","award":["C-GE-0811-0545-RAD01"],"award-info":[{"award-number":["C-GE-0811-0545-RAD01"]}]},{"name":"Foundation Fighting Blindness USA","award":["BR-GE-0510-0489-RAD"],"award-info":[{"award-number":["BR-GE-0510-0489-RAD"]}]},{"DOI":"10.13039\/501100001826","name":"The Netherlands Organization for Health Research and Development","doi-asserted-by":"crossref","award":["40-00812-98-09047"],"award-info":[{"award-number":["40-00812-98-09047"]}],"id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2015,2]]},"abstract":"Abstract<\/jats:title>Purpose<\/jats:title>Defects in MAK<\/jats:styled-content><\/jats:italic>, encoding a protein localized to the photoreceptor connecting cilium, have recently been associated with autosomal recessive retinitis pigmentosa (RP<\/jats:styled-content>). The aim of this study is to describe our detailed clinical observations in patients with MAK<\/jats:styled-content><\/jats:italic>\u2010associated RP<\/jats:styled-content>, including an assessment of syndromic symptoms frequently observed in ciliopathies.<\/jats:p><\/jats:sec>Methods<\/jats:title>In this international collaborative study, 11 patients carrying nonsense or missense mutations in MAK<\/jats:styled-content><\/jats:italic> were clinically evaluated, including extensive assessment of the medical history, slit\u2010lamp biomicroscopy, ophthalmoscopy, kinetic perimetry, electroretinography (ERG<\/jats:styled-content>), spectral\u2010domain optical coherence tomography (SD<\/jats:styled-content>\u2010OCT<\/jats:styled-content>), autofluorescence imaging and fundus photography. Additionally, we used a questionnaire to evaluate the presence of syndromic features and tested the olfactory function.<\/jats:p><\/jats:sec>Results<\/jats:title>MAK<\/jats:styled-content><\/jats:italic>\u2010associated RP<\/jats:styled-content> is not associated with syndromic features, not even with subclinical dysfunction of the olfactory apparatus. All patients experienced typical RP<\/jats:styled-content> symptoms of night blindness followed by visual field constriction. Symptoms initiated between childhood and the age of 43 (mean: 23\u00a0years). Although some patients experienced vision loss, the visual acuity remained normal in most patients. ERG<\/jats:styled-content> and ophthalmoscopy revealed classic RP<\/jats:styled-content> characteristics, and SD<\/jats:styled-content>\u2010OCT<\/jats:styled-content> demonstrated thinning of the overall retina, outer nuclear layer and photoreceptor\u2013pigment epithelium complex.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Nonsense and missense mutations in MAK<\/jats:styled-content><\/jats:italic> give rise to a non\u2010syndromic recessive RP<\/jats:styled-content> phenotype without apparent extra\u2010ocular features. When compared to other retinal ciliopathies, MAK<\/jats:styled-content><\/jats:italic>\u2010associated RP<\/jats:styled-content> appears to be relatively mild and shows remarkable resemblance to RP<\/jats:styled-content>1<\/jats:italic>\u2010associated RP<\/jats:styled-content>, which could be explained by the close functional relation of these proteins.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.12500","type":"journal-article","created":{"date-parts":[[2014,11,11]],"date-time":"2014-11-11T07:47:15Z","timestamp":1415692035000},"page":"83-94","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Retinitis pigmentosa caused by mutations in the ciliary MAK<\/scp><\/i> gene is relatively mild and is not associated with apparent extra\u2010ocular features"],"prefix":"10.1111","volume":"93","author":[{"given":"Ramon A. 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