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Related Experiment Video

Updated: Feb 11, 2026

Application of Optical Coherence Tomography to a Mouse Model of Retinopathy
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Outer nuclear layer hyperreflectivity as an optical coherence tomography finding in Danon disease.

Maria Emfietzoglou1, Gustavo Sakuno1, Sandra Hoyek1

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

Acta Ophthalmologica
|February 10, 2026
PubMed
Summary

Outer nuclear layer (ONL) hyperreflectivity is a common optical coherence tomography (OCT) finding in Danon disease, indicating early retinal changes. This prevalent OCT feature is most noticeable in younger patients without significant outer retinal atrophy.

Keywords:
Danon diseaseLAMP2 deficiencyX‐linked dominantoptical coherence tomography (OCT)outer nuclear layerretinal biomarkersretinal imaging

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Area of Science:

  • Ophthalmology
  • Medical Imaging
  • Genetics

Background:

  • Danon disease is a rare genetic disorder affecting multiple organs, including the heart and eyes.
  • Retinal involvement in Danon disease can lead to visual impairment.
  • Optical coherence tomography (OCT) is a key imaging modality for assessing retinal structure.

Purpose of the Study:

  • To identify and describe a specific optical coherence tomography (OCT) finding associated with Danon disease.
  • To determine the prevalence of this OCT finding in genetically confirmed Danon disease patients.

Main Methods:

  • Retrospective observational case series combined with a systematic literature review.
  • Analysis of 52 macular OCT scans from 29 genetically confirmed Danon disease patients.
  • Two independent reviewers assessed OCT images for outer nuclear layer (ONL) hyperreflectivity.

Main Results:

  • Outer nuclear layer (ONL) hyperreflectivity was observed in 75% of analyzed macular OCT scans.
  • The finding was most evident in scans without macular atrophy or cystoid macular edema.
  • Only 2% of scans showed no ONL hyperreflectivity despite adequate image quality and preserved foveal architecture.

Conclusions:

  • Outer nuclear layer (ONL) hyperreflectivity is a highly prevalent OCT finding in Danon disease.
  • This OCT feature may indicate early retinal involvement, particularly in younger patients.
  • Further longitudinal studies are needed to establish the prognostic value of ONL hyperreflectivity in Danon disease.