Retinitis pigmentosa caused by mutations in the ciliaryMAKgene is relatively mild and is not associated with apparent extra-ocular features

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ABSTRACT.Purpose:Defects inMAK, 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 withMAK-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 inMAKwere 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 inMAKgive 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 toRP1-associated RP, which could be explained by the close functional relation of these proteins.

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