Optical coherence tomography and fundus autofluorescence imaging in an infant with RD3-related leber congenital amaurosis

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dc.authorid0000-0003-2312-2521
dc.authorid0000-0002-7785-2995
dc.authorid0000-0001-9829-7268
dc.authorid0000-0002-8851-6559
dc.authorid0000-0002-8047-5553
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.issued2020
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümü, Göz Hastalıkları Ana Bilim Dalı
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı
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.
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/10.1080/13816810.2020.1731837
dc.identifier.doi10.1080/13816810.2020.1731837
dc.identifier.endpage82
dc.identifier.issn1381-6810
dc.identifier.issn1744-5094
dc.identifier.issue1
dc.identifier.scopusqualityQ2
dc.identifier.startpage79
dc.identifier.urihttps://dx.doi.org/10.1080/13816810.2020.1731837
dc.identifier.urihttps://hdl.handle.net/20.500.12511/5667
dc.identifier.volume41
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherTaylor and Francis Inc.
dc.relation.ispartofOphthalmic Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/embargoedAccess
dc.subjectLeber Congenital Amaurosis
dc.subjectRD3 Mutation
dc.subjectOptical Coherence Tomography
dc.subjectFundus Autofluorescence
dc.titleOptical coherence tomography and fundus autofluorescence imaging in an infant with RD3-related leber congenital amaurosis
dc.typeArticle

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