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Peripheral bright streaks in tuberous sclerosis.

Torgerð Hentze Eliesersdóttir¹, Elin Holm^2,3, Christina Eckmann-Hansen^2,3

¹Department of Ophthalmology, Landssjúkrahúsið, Tórshavn, Faroe Islands.

American Journal of Ophthalmology Case Reports

|March 18, 2021

Summary

Bright hyperautofluorescent streaks in the peripheral retina were identified in a patient with tuberous sclerosis (TSC). This finding may represent a novel outer retinal abnormality linked to TSC1 mutations.

Keywords:

Fundus autofluorescence Fundus photography Optical coherence tomography Retina Tuberous sclerosis

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Area of Science:

Ophthalmology
Genetics

Background:

Tuberous sclerosis (TSC) is a genetic disorder characterized by the development of tumors in various organs.
Ocular manifestations of TSC can include retinal hamartomas, but peripheral retinal findings are less commonly described.

Observation:

A patient with a pathogenic TSC1 mutation presented with unique peripheral retinal findings.
Fundus examination revealed thin, yellowish streaks in the inferior peripheral fundus of one eye.

Findings:

The peripheral streaks exhibited bright hyperautofluorescence under blue light.
Optical coherence tomography demonstrated irregular thickening of the photoreceptor-pigment epithelium complex corresponding to the streaks.

Implications:

These streaks share similarities with achromatic patches, suggesting a potential link to somatic mutations in TSC1.
The pattern of hyperautofluorescence may resemble X-linked retinopathies, hinting at clonal cell origins.
Identifying this novel lesion expands diagnostic capabilities using fundus imaging in genetic disorders.