Outer nuclear layer hyperreflectivity as an optical coherence tomography finding in Danon disease

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.