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Diffuse Pigmented Lesions in the Outer Retina: An Unusual Fundus Appearance
Matthew D Benson1, Uriel Rubin1, Marvi Cheema1
1Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Alberta, Canada.
Journal of Vitreoretinal Diseases
|April 3, 2023
Summary
This case study details a 40-year-old woman with unusual bilateral retinal pigmented lesions. Findings suggest a possible retinal dystrophy, expanding the known spectrum of pigmented fundus variations.
Area of Science:
- Ophthalmology
- Medical Genetics
Background:
- Bilateral retinal pigmented lesions can present diagnostic challenges.
- Differentiating between congenital anomalies and dystrophies is crucial for patient management.
Observation:
- A 40-year-old woman presented with multiple, flat, gray, bilateral retinal pigmented lesions.
- Optical coherence tomography (OCT) revealed retinal pigment epithelium thickening and overlying layer disruption.
- Electroretinography showed generalized reduced a- and b-wave amplitudes.
Findings:
- Lesion characteristics and OCT findings mimicked congenital grouped pigmentation.
- Negative hereditary retinal dystrophy panel testing and absence of malignancy indicators were noted.
- The bilateral, symmetric presentation and electroretinographic changes pointed towards a retinal dystrophy.
Implications:
- This case expands the phenotypic diversity of pigmented fundus lesions.
- Highlights the importance of comprehensive evaluation, including electroretinography, for atypical pigmented lesions.
- Suggests potential for novel genetic or acquired retinal dystrophies presenting with pigmented lesions.
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