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

David B McGuigan; Elise Heon; Artur V Cideciyan; Rinki Ratnapriya; Monica Lu; Alexander Sumaroka; Alejandro J Roman; Vaishnavi Batmanabane; Alexandra V Garafalo; Edwin M Stone; Anand Swaroop; Samuel G Jacobson

doi:10.3390/genes8070178

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

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

David B McGuigan, Elise Heon, Artur V Cideciyan, Rinki Ratnapriya, Monica Lu, Alexander Sumaroka, Alejandro J Roman, Vaishnavi Batmanabane, Alexandra V Garafalo, Edwin M Stone, …

Genes, Vol.8(7), p.178

2017

DOI: 10.3390/genes8070178

PMCID: PMC5541311

PMID: 28704921

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Abstract

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 .

autofluorescence

optical coherence tomography

cone

rod

ciliopathy

Details

Title: Subtitle: EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression
Creators: David B McGuigan - 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
Elise Heon - 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
Artur V Cideciyan - 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
Rinki Ratnapriya - 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
Monica Lu - 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
Alexander Sumaroka - 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
Alejandro J Roman - 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
Vaishnavi Batmanabane - 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
Alexandra V Garafalo - 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
Edwin M Stone - 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
Anand Swaroop - 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
Samuel G Jacobson - 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
Resource Type: Journal article
Publication Details: Genes, Vol.8(7), p.178
DOI: 10.3390/genes8070178
PMID: 28704921
PMCID: PMC5541311
NLM abbreviation: Genes (Basel)
ISSN: 2073-4425
eISSN: 2073-4425
Publisher: MDPI
Language: English
Date published: 2017
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983980052802771

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