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dc.contributor.authorSisk, R.A.
dc.contributor.authorHufnagel, R.B.
dc.contributor.authorLaham, A.
dc.date.accessioned2019-05-17T13:21:16Z
dc.date.available2019-05-17T13:21:16Z
dc.date.issued2018
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85050804552&doi=10.1155%2f2018%2f2984934&partnerID=40&md5=a7e98ce6640f9246f35cb70263f57f3c
dc.identifier.urihttp://hdl.handle.net/10713/9192
dc.description.abstractPurpose. To present new clinical features, multimodal and ultrawide-field imaging characteristics of peripheral cone dystrophy (PCD), and results of laboratory and genetic investigation to decipher the etiology. Methods. Retrospective observational case-series. Results. Three patients with PCD presented with bilateral paracentral scotomas and a mean visual acuity of 20/25. All exhibited confluent macular hyperautofluorescence with a central bull's eye lesion. Spectral-domain optical coherence tomography revealed loss of outer retinal elements, particularly the inner segment ellipsoid band and external limiting membrane, within the area of macular hyperautofluorescence. This area corresponded with a lightened fundus appearance and variable retinal pigment epithelium (RPE) abnormalities. Full field and multifocal electroretinography distinguished PCD from other photoreceptor dystrophies. Ultrawide-field imaging revealed irregular peripheral retinal lesions in a distribution greater nasally than temporally and not contiguous with the macular lesion. Functional and anatomic testing remained stable over a mean follow-up of 3 years. Laboratory investigation for causes of uveitis was negative. Whole exome sequencing identified rare variants in genes associated with macular or cone dystrophy or degeneration. Conclusions. In contrast to the original description, the funduscopic and fluorescein angiographic appearance of PCD is abnormal, although the defects are subtle. Peripheral lesions may be observed in some patients. Bilateral, symmetric, macular hyperautofluorescence associated with outer retinal atrophy that spares the fovea is a characteristic of PCD. Pathogenic variants in the same gene were not shared across the cohort, suggesting genetic heterogeneity. Further evaluation is warranted. Copyright 2018 Robert A. Sisk et al.en_US
dc.description.sponsorshipThe Baylor-Hopkins Center for Mendelian Genomics (BHCMG) and the National Ophthalmic Disease Geno-typing and Phenotyping Network (eyeGENE) performed genetic analysis at no cost to the patients or the authors. Grants from the National Human Genome Research Institute, (1U54HG006542) and National Institute for Deafness and Communication Disorders (R01DC016295) provided support for this work.en_US
dc.description.urihttps://dx.doi.org/10.1155/2018/2984934en_US
dc.language.isoen_USen_US
dc.publisherHindawi Limiteden_US
dc.relation.ispartofJournal of Ophthalmology
dc.subjectperipheral cone dystrophyen_US
dc.subject.meshCone Dystrophy--geneticsen_US
dc.subject.meshElectroretinographyen_US
dc.titlePeripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysisen_US
dc.typeArticleen_US
dc.identifier.doi10.1155/2018/2984934


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