Utility of multimodal imaging in the clinical diagnosis of inherited retinal degenerations
Inherited retinal degeneration (IRD) is a heterogeneous group of genetic disorders of variable onset and severity, with vision loss being a common endpoint in most cases. More than 50 distinct IRD phenotypes and over 280 causative genes have been described. Establishing a clinical phenotype for pati...
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| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2024-12-01
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| Series: | Taiwan Journal of Ophthalmology |
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| Online Access: | https://journals.lww.com/10.4103/tjo.TJO-D-24-00066 |
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| author | Brian J. H. Lee Christopher Z. Y. Sun Charles J. T. Ong Kanika Jain Tien-En Tan Choi Mun Chan Ranjana S. Mathur Rachael W. C. Tang Yasmin Bylstra Sylvia P. R. Kam Weng Khong Lim Beau J. Fenner |
| author_facet | Brian J. H. Lee Christopher Z. Y. Sun Charles J. T. Ong Kanika Jain Tien-En Tan Choi Mun Chan Ranjana S. Mathur Rachael W. C. Tang Yasmin Bylstra Sylvia P. R. Kam Weng Khong Lim Beau J. Fenner |
| author_sort | Brian J. H. Lee |
| collection | DOAJ |
| description | Inherited retinal degeneration (IRD) is a heterogeneous group of genetic disorders of variable onset and severity, with vision loss being a common endpoint in most cases. More than 50 distinct IRD phenotypes and over 280 causative genes have been described. Establishing a clinical phenotype for patients with IRD is particularly challenging due to clinical variability even among patients with similar genotypes. Clinical phenotyping provides a foundation for understanding disease progression and informing subsequent genetic investigations. Establishing a clear clinical phenotype for IRD cases is required to corroborate the data obtained from exome and genome sequencing, which often yields numerous variants in genes associated with IRD. In the current work, we review the use of contemporary retinal imaging modalities, including ultra-widefield and autofluorescence imaging, optical coherence tomography, and multispectral imaging, in the diagnosis of IRD. |
| format | Article |
| id | doaj-art-ac0d70e121af4734bfe6508190e1bb09 |
| institution | Kabale University |
| issn | 2211-5056 2211-5072 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Taiwan Journal of Ophthalmology |
| spelling | doaj-art-ac0d70e121af4734bfe6508190e1bb092025-01-14T15:50:08ZengWolters Kluwer Medknow PublicationsTaiwan Journal of Ophthalmology2211-50562211-50722024-12-0114448649610.4103/tjo.TJO-D-24-00066Utility of multimodal imaging in the clinical diagnosis of inherited retinal degenerationsBrian J. H. LeeChristopher Z. Y. SunCharles J. T. OngKanika JainTien-En TanChoi Mun ChanRanjana S. MathurRachael W. C. TangYasmin BylstraSylvia P. R. KamWeng Khong LimBeau J. FennerInherited retinal degeneration (IRD) is a heterogeneous group of genetic disorders of variable onset and severity, with vision loss being a common endpoint in most cases. More than 50 distinct IRD phenotypes and over 280 causative genes have been described. Establishing a clinical phenotype for patients with IRD is particularly challenging due to clinical variability even among patients with similar genotypes. Clinical phenotyping provides a foundation for understanding disease progression and informing subsequent genetic investigations. Establishing a clear clinical phenotype for IRD cases is required to corroborate the data obtained from exome and genome sequencing, which often yields numerous variants in genes associated with IRD. In the current work, we review the use of contemporary retinal imaging modalities, including ultra-widefield and autofluorescence imaging, optical coherence tomography, and multispectral imaging, in the diagnosis of IRD.https://journals.lww.com/10.4103/tjo.TJO-D-24-00066autofluorescenceimaginginherited retinal degenerationinherited retinal diseaseoptical coherence tomographyretina |
| spellingShingle | Brian J. H. Lee Christopher Z. Y. Sun Charles J. T. Ong Kanika Jain Tien-En Tan Choi Mun Chan Ranjana S. Mathur Rachael W. C. Tang Yasmin Bylstra Sylvia P. R. Kam Weng Khong Lim Beau J. Fenner Utility of multimodal imaging in the clinical diagnosis of inherited retinal degenerations Taiwan Journal of Ophthalmology autofluorescence imaging inherited retinal degeneration inherited retinal disease optical coherence tomography retina |
| title | Utility of multimodal imaging in the clinical diagnosis of inherited retinal degenerations |
| title_full | Utility of multimodal imaging in the clinical diagnosis of inherited retinal degenerations |
| title_fullStr | Utility of multimodal imaging in the clinical diagnosis of inherited retinal degenerations |
| title_full_unstemmed | Utility of multimodal imaging in the clinical diagnosis of inherited retinal degenerations |
| title_short | Utility of multimodal imaging in the clinical diagnosis of inherited retinal degenerations |
| title_sort | utility of multimodal imaging in the clinical diagnosis of inherited retinal degenerations |
| topic | autofluorescence imaging inherited retinal degeneration inherited retinal disease optical coherence tomography retina |
| url | https://journals.lww.com/10.4103/tjo.TJO-D-24-00066 |
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