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Hyperreflective Outer Nuclear Layer as a Biomarker of Early Stargardt Disease. A Case Report


Authors: Omer Karti;  Ziya Ayhan;  Osman Saatci Ali
Authors‘ workplace: Dokuz Eylul University, Department of Ophthalmology, İzmir, Türkiye
Published in: Čes. a slov. Oftal., 82, 2026, No. 5, p. 273-276
Category: Case Report
doi: https://doi.org/10.31348/2025/37

Overview

Stargardt disease (STGD1) is among the most prevalent inherited macular dystrophies, characterized by typical flavimaculatus flecks and varying degrees of macular atrophy. This case report highlights the importance of optical coherence tomography (OCT) to detect subtle OCT changes in an 8-year-old girl without any detectable fundus abnormalities.

Keywords:

optical coherence tomography – ABCA4 gene – flavimaculatus flecks – Stargardt disease


Sources

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Labels
Ophthalmology
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