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dc.contributor.authorDikkaya, Funda
dc.contributor.authorSeyhan, Serhat
dc.contributor.authorKaraman Erdur, Sevil
dc.contributor.authorŞentürk, Fevzi
dc.contributor.authorAras, Cengiz
dc.date.accessioned2020-08-05T08:15:58Z
dc.date.available2020-08-05T08:15:58Z
dc.date.issued2020en_US
dc.identifier.citationDikkaya, F., Seyhan, S., Karaman Erdur, S., Şentürk, F. ve Aras, C. (2020). Optical coherence tomography and fundus autofluorescence imaging in an infant with RD3-related leber congenital amaurosis. Ophthalmic Genetics, 41(1), 79-82. https://dx.doi.org/10.1080/13816810.2020.1731837en_US
dc.identifier.issn1381-6810
dc.identifier.issn1744-5094
dc.identifier.urihttps://dx.doi.org/10.1080/13816810.2020.1731837
dc.identifier.urihttps://hdl.handle.net/20.500.12511/5667
dc.description.abstractBackground: Leber congenital amaurosis (LCA) is both genetically and phenotypically heterogeneous group of retinal disorder. Mutations in retinal degeneration 3 (RD3) have been reported as an infrequent cause of LCA which account for less than 1% of all known LCA cases. This case report provides Optical Coherence Tomography (OCT) and Fundus Autofluorescence (FAF) findings of an infant with LCA related to a mutation in RD3. Materials and Methods: Single retrospective case report. Results: TruSight One Expanded Sequencing Panel was applied to the patient on the Illumina NextSeq. Homozygous pathogenic variant (c.112 C > T, p.Arg38Ter) was detected in the RD3 gene. Well-demarcated central foveal atrophy was noted in the infrared imaging. FAF imaging showed perifoveal hyperautofluorescent ring and irregular hyperautofluorescence outside the vascular arcade. An arrest in foveal development and loss of outer retinal structure including outer nuclear layer, external limiting membrane, ellipsoid zone and interdigitation zone at the fovea were detected in the OCT imaging. Conclusion: This study indicates that RD3-related LCA has a very severe phenotype with foveal development arrest and very early loss of all photoreceptor layer and external limiting membrane at the fovea.en_US
dc.language.isoengen_US
dc.publisherTaylor and Francis Inc.en_US
dc.rightsinfo:eu-repo/semantics/embargoedAccessen_US
dc.subjectLeber Congenital Amaurosisen_US
dc.subjectRD3 Mutationen_US
dc.subjectOptical Coherence Tomographyen_US
dc.subjectFundus Autofluorescenceen_US
dc.titleOptical coherence tomography and fundus autofluorescence imaging in an infant with RD3-related leber congenital amaurosisen_US
dc.typearticleen_US
dc.relation.journalOphthalmic Geneticsen_US
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümü, Göz Hastalıkları Ana Bilim Dalıen_US
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalıen_US
dc.authorid0000-0003-2312-2521en_US
dc.authorid0000-0002-7785-2995en_US
dc.authorid0000-0001-9829-7268en_US
dc.authorid0000-0002-8851-6559en_US
dc.authorid0000-0002-8047-5553en_US
dc.identifier.volume41en_US
dc.identifier.issue1en_US
dc.identifier.startpage79en_US
dc.identifier.endpage82en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.doi10.1080/13816810.2020.1731837en_US


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