A case with bilateral C-shaped autofluorescence in retinal degeneration

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.

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Publication Details

Journal
American Journal of Ophthalmology Case Reports
Published
2025-05-02
DOI
https://doi.org/10.1016/j.ajoc.2025.102351
Primary Topic
Porphyrin Metabolism and Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

A case with bilateral C-shaped autofluorescence in retinal degeneration

Nan‐Kai Wang, Eugene Yu‐Chuan Kang, Hueih‐Shing Hsu, Chunya Kang
American Journal of Ophthalmology Case Reports
Porphyrin Metabolism and Disorders
article

A case with bilateral C-shaped autofluorescence in retinal degeneration

Nan‐Kai Wang, Eugene Yu‐Chuan Kang, Hueih‐Shing Hsu, Chunya Kang
article en

Abstract

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.

American Journal of Ophthalmology Case ReportsVol. 38
Chang Gung University (TW), Chang Gung Memorial Hospital (TW), Keelung Chang Gung Memorial Hospital (TW), Columbia University (US)
Zero hunger
Openalex Percentile: Top 92%
Porphyrin Metabolism and Disorders
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A case with bilateral C-shaped autofluorescence in retinal degeneration — Nan‐Kai Wang, Eugene Yu‐Chuan Kang, et al. · American Journal of Ophthalmology Case Reports (2025) | TGRS Research Map | TGRS