A case with bilateral C-shaped autofluorescence in retinal degeneration
Purpose: To report a case of a 19-year-old male with Optic Atrophy-13 (OPA13) associated with a de novo heterozygous missense variant in the single-strand DNA-binding protein 1 (SSBP1) gene, characterized by a bilateral double C-shaped hyper-autofluorescent ring on fundus autofluorescence (FAF). Obs...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-06-01
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| Series: | American Journal of Ophthalmology Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2451993625001045 |
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| author | Hsin Hsu Chunya Kang Eugene Yu-Chuan Kang Nan-Kai Wang |
| author_facet | Hsin Hsu Chunya Kang Eugene Yu-Chuan Kang Nan-Kai Wang |
| author_sort | Hsin Hsu |
| collection | DOAJ |
| description | Purpose: To report a case of a 19-year-old male with Optic Atrophy-13 (OPA13) associated with a de novo heterozygous missense variant in the single-strand DNA-binding protein 1 (SSBP1) gene, characterized by a bilateral double C-shaped hyper-autofluorescent ring on fundus autofluorescence (FAF). Observations: A 19-year-old male exhibited poor visual acuity, pale optic discs, vessel attenuation, and peripheral pigmentary changes. FAF imaging revealed a bilateral double C-shaped hyper-autofluorescent ring, which was not frequently observed. Optical coherence tomography (OCT) showed retinal thinning and ellipsoid zone disruption, while electroretinography (ERG) indicated cone-rod dystrophy. Genetic testing identified a pathogenic SSBP1 missense variant, confirming the diagnosis of OPA13. Parental genetic analysis excluded the variant, establishing it as a de novo one. Conclusions and importance: This report highlights a novel retinal feature—a double C-shaped autofluorescent ring—associated with OPA13, potentially serving as a diagnostic marker for the disease. The findings emphasize the role of genetic testing in diagnosing OPA13 and distinguishing it from other retinal and optic neuropathies. Recognition of this feature could enhance early diagnosis and management strategies for patients with suspected OPA13. |
| format | Article |
| id | doaj-art-9ac2ad9e99454f6ea4208afcfba067f1 |
| institution | Kabale University |
| issn | 2451-9936 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | American Journal of Ophthalmology Case Reports |
| spelling | doaj-art-9ac2ad9e99454f6ea4208afcfba067f12025-08-20T03:54:01ZengElsevierAmerican Journal of Ophthalmology Case Reports2451-99362025-06-013810235110.1016/j.ajoc.2025.102351A case with bilateral C-shaped autofluorescence in retinal degenerationHsin Hsu0Chunya Kang1Eugene Yu-Chuan Kang2Nan-Kai Wang3Department of Medicine, College of Medicine, Chang Gung University, Taoyuan, TaiwanDepartment of Education, Keelung Chang Gung Memorial Hospital, Keelung, TaiwanDepartment of Medicine, College of Medicine, Chang Gung University, Taoyuan, Taiwan; Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan; Department of Ophthalmology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA; Graduate Institute of Clinical Medical Sciences, College of Medicine, Chang Gung University, Taoyuan, Taiwan; Corresponding author. Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, No. 5, Fu Shin St., Kuei-Shan, Taoyuan, 333, Taiwan.Department of Medicine, College of Medicine, Chang Gung University, Taoyuan, Taiwan; Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan; Department of Ophthalmology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USAPurpose: To report a case of a 19-year-old male with Optic Atrophy-13 (OPA13) associated with a de novo heterozygous missense variant in the single-strand DNA-binding protein 1 (SSBP1) gene, characterized by a bilateral double C-shaped hyper-autofluorescent ring on fundus autofluorescence (FAF). Observations: A 19-year-old male exhibited poor visual acuity, pale optic discs, vessel attenuation, and peripheral pigmentary changes. FAF imaging revealed a bilateral double C-shaped hyper-autofluorescent ring, which was not frequently observed. Optical coherence tomography (OCT) showed retinal thinning and ellipsoid zone disruption, while electroretinography (ERG) indicated cone-rod dystrophy. Genetic testing identified a pathogenic SSBP1 missense variant, confirming the diagnosis of OPA13. Parental genetic analysis excluded the variant, establishing it as a de novo one. Conclusions and importance: This report highlights a novel retinal feature—a double C-shaped autofluorescent ring—associated with OPA13, potentially serving as a diagnostic marker for the disease. The findings emphasize the role of genetic testing in diagnosing OPA13 and distinguishing it from other retinal and optic neuropathies. Recognition of this feature could enhance early diagnosis and management strategies for patients with suspected OPA13.http://www.sciencedirect.com/science/article/pii/S2451993625001045SSBP1OPA13Optic atrophyFundus autofluorescence |
| spellingShingle | Hsin Hsu Chunya Kang Eugene Yu-Chuan Kang Nan-Kai Wang A case with bilateral C-shaped autofluorescence in retinal degeneration American Journal of Ophthalmology Case Reports SSBP1 OPA13 Optic atrophy Fundus autofluorescence |
| title | A case with bilateral C-shaped autofluorescence in retinal degeneration |
| title_full | A case with bilateral C-shaped autofluorescence in retinal degeneration |
| title_fullStr | A case with bilateral C-shaped autofluorescence in retinal degeneration |
| title_full_unstemmed | A case with bilateral C-shaped autofluorescence in retinal degeneration |
| title_short | A case with bilateral C-shaped autofluorescence in retinal degeneration |
| title_sort | case with bilateral c shaped autofluorescence in retinal degeneration |
| topic | SSBP1 OPA13 Optic atrophy Fundus autofluorescence |
| url | http://www.sciencedirect.com/science/article/pii/S2451993625001045 |
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