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Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration
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Retinal Pigment Epithelial Changes in Gordon Holmes Syndrome

Edward S Lu1, Lindsay Klofas Kozek1, Luis Martinez-Velazquez1

  • 1Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.

Journal of Vitreoretinal Diseases
|May 15, 2026
PubMed
Summary

Gordon Holmes syndrome, linked to PNPLA6 variants, can show unusual retinal pigment changes and specific brain MRI findings. These discoveries expand understanding of this rare neurodegenerative disorder.

Keywords:
Gordon Holmes syndromefundus autofluorescenceocular neurogenetics

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