Peripheral bright streaks in tuberous sclerosis
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Published on: March 24, 2023
Torgerð Hentze Eliesersdóttir1, Elin Holm2,3, Christina Eckmann-Hansen2,3
1Department of Ophthalmology, Landssjúkrahúsið, Tórshavn, Faroe Islands.
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.
