PHOTORECEPTOR INNER SEGMENT MORPHOLOGY IN BEST VITELLIFORM MACULAR DYSTROPHY

Area of Science:

• Ophthalmology
• Retinal Imaging
• Cellular Biology

Background:

• Best vitelliform macular dystrophy (BVMD) is an inherited retinal degeneration.
• Understanding the structural changes in the outer retina is crucial for managing BVMD.

Purpose of the Study:

• To characterize outer retina structure in BVMD using advanced imaging techniques.
• To determine the impact of macular lesions on photoreceptors in BVMD.

Main Methods:

• Prospective follow-up of five BVMD patients using spectral domain optical coherence tomography and adaptive optics scanning light ophthalmoscopy (AOSLO).
• AOSLO imaging captured cone photoreceptor mosaics within and around retinal lesions.
• Cone density was measured, and longitudinal imaging was performed.

Main Results:

• Photoreceptor morphology within BVMD lesions showed significant variability based on disease stage.
• Outer retina structure was present even in advanced BVMD.
• Photoreceptor density adjacent to lesions was normal and stable over time.
• Mobile, disk-like structures, possibly macrophages, were observed.

Conclusions:

• Combined confocal and nonconfocal split-detector AOSLO imaging reveals significant variability within BVMD lesions across all stages.
• Longitudinal cellular photoreceptor imaging is a valuable tool for understanding BVMD progression.
• This imaging approach can monitor therapeutic treatment responses in inherited degenerations like BVMD.