Next Article in Journal
Special Issue Introduction: Role of Epigenetic Gene Regulation in Brain Function
Next Article in Special Issue
Outcome of Full-Thickness Macular Hole Surgery in Choroideremia
Previous Article in Journal
Development and Evaluation of a Novel Set of EST-SSR Markers Based on Transcriptome Sequences of Black Locust (Robinia pseudoacacia L.)
Previous Article in Special Issue
Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions
Open AccessArticle

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
Department of Ophthalmology and Vision Sciences, Program of Genetics and Genomic Biology, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada
Neurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
Department of Ophthalmology and Visual Science, Stephen A. Wynn Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA
Author to whom correspondence should be addressed.
Genes 2017, 8(7), 178;
Received: 6 May 2017 / Revised: 6 July 2017 / Accepted: 6 July 2017 / Published: 12 July 2017
Mutations in the EYS (eyes shut homolog) gene are a common cause of autosomal recessive (ar) retinitis pigmentosa (RP). Without a mammalian model of human EYS disease, there is limited understanding of details of disease expression and rates of progression of the retinal degeneration. We studied clinically and with chromatic static perimetry, spectral-domain optical coherence tomography (OCT), and en face autofluoresence imaging, a cohort of 15 patients (ages 12–51 at first visit), some of whom had longitudinal data of function and structure. Rod sensitivity was able to be measured by chromatic perimetry in most patients at their earliest visits and some patients retained patchy rod function into the fifth decade of life. As expected from RP, cone sensitivity persisted after rod function was no longer measurable. The photoreceptor nuclear layer of the central retina was abnormal except at the fovea in most patients at first visit. Perifoveal disease measured over a period of years indicated that photoreceptor structural loss was followed by dysmorphology of the inner retina and loss of retinal pigment epithelial integrity. Although there could be variability in severity, preliminary analyses of the rates of vision loss suggested that EYS is a more rapidly progressive disease than other ciliopathies causing arRP, such as USH2A and MAK. View Full-Text
Keywords: optical coherence tomography; rod; cone; autofluorescence; ciliopathy optical coherence tomography; rod; cone; autofluorescence; ciliopathy
Show Figures

Figure 1

MDPI and ACS Style

McGuigan, D.B.; Heon, E.; Cideciyan, A.V.; Ratnapriya, R.; Lu, M.; Sumaroka, A.; Roman, A.J.; Batmanabane, V.; Garafalo, A.V.; Stone, E.M.; Swaroop, A.; Jacobson, S.G. EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression. Genes 2017, 8, 178.

Show more citation formats Show less citations formats
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

Search more from Scilit
Back to TopTop