Peripheral bright streaks in tuberous sclerosis

Purpose: To describe the finding of bright hyperautofluorescent streaks in the peripheral retina in tuberous sclerosis. Observations: A woman with a pathogenic TSC1 mutation and cutaneous manifestations of tuberous sclerosis underwent fundus examination and was found to have a cluster of thin, yello...

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Bibliographic Details
Main Authors: Torgerð Hentze Eliesersdóttir, Elin Holm, Christina Eckmann-Hansen, Marie Wistrup Torm, Mohamed Belmouhand, Michael Larsen
Format: Article
Language:English
Published: Elsevier 2021-06-01
Series:American Journal of Ophthalmology Case Reports
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2451993621000414
Description
Summary:Purpose: To describe the finding of bright hyperautofluorescent streaks in the peripheral retina in tuberous sclerosis. Observations: A woman with a pathogenic TSC1 mutation and cutaneous manifestations of tuberous sclerosis underwent fundus examination and was found to have a cluster of thin, yellowish streaks in the inferior peripheral fundus of her left eye. The streaks were hyperautofluorescent in blue light and associated with irregular thickening of the photoreceptor-pigment epithelium complex on optical coherence tomography. Conclusions and importance: The cluster of outer retinal abnormalities in a sector of the peripheral retina in one eye of a TSC1 patient has features in common with the more centrally located and less numerous lesions called achromatic patches. The resemblance of the streak pattern with the pattern of hypoautofluorescence in X-linked retinopathies suggests that the streaks may represent a clone of cells derived from a single somatic mutation in TSC1. The identification of this lesion type expands the scope of conditions that can be diagnosed by fundus imaging.
ISSN:2451-9936