دورية أكاديمية
أعرض في EDS

Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.

التفاصيل البيبلوغرافية
العنوان: Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.
المؤلفون: van Huet RA; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Siemiatkowska AM, Özgül RK, Yücel D, Hoyng CB, Banin E, Blumenfeld A, Rotenstreich Y, Riemslag FC, den Hollander AI, Theelen T, Collin RW, van den Born LI, Klevering BJ
المصدر: Acta ophthalmologica [Acta Ophthalmol] 2015 Feb; Vol. 93 (1), pp. 83-94. Date of Electronic Publication: 2014 Nov 11.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1755-3768 (Electronic) Linking ISSN: 1755375X NLM ISO Abbreviation: Acta Ophthalmol Subsets: MEDLINE
أسماء مطبوعة: Publication: Oxford, UK : Wiley-Blackwell
Original Publication: Oxford, UK ; Malden, MA : Blackwell Munksgaard
مواضيع طبية MeSH: Codon, Nonsense* , Mutation, Missense*, Photoreceptor Connecting Cilium/*metabolism , Protein Serine-Threonine Kinases/*genetics , Retinitis Pigmentosa/*genetics, Adult ; Aged ; Electroretinography ; Female ; Fluorescein Angiography ; Humans ; Male ; Middle Aged ; Pedigree ; Phenotype ; Protein Serine-Threonine Kinases/metabolism ; Retinitis Pigmentosa/pathology ; Surveys and Questionnaires ; Tomography, Optical Coherence ; Visual Field Tests ; Young Adult
مستخلص: Purpose: 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.
(© 2014 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.)
فهرسة مساهمة: Keywords: MAK; clinical variability; non-syndromic; retinitis pigmentosa
المشرفين على المادة: 0 (Codon, Nonsense)
EC 2.7.11.1 (Protein Serine-Threonine Kinases)
EC 2.7.11.22 (MAK protein, human)
تواريخ الأحداث: Date Created: 20141112 Date Completed: 20150624 Latest Revision: 20211203
رمز التحديث: 20221213
DOI: 10.1111/aos.12500
PMID: 25385675
قاعدة البيانات: MEDLINE
الوصف
تدمد:1755-3768
DOI:10.1111/aos.12500