Optical coherence tomography in Best vitelliform macular dystrophy.

Area of Science:

• Ophthalmology
• Medical Imaging
• Retinal Diseases

Background:

• Vitelliform macular dystrophy (VMD) is a group of inherited retinal disorders characterized by the accumulation of lipofuscin-like material in the macula.
• Spectral-domain optical coherence tomography (SD-OCT) is a key imaging modality for visualizing retinal microstructures and assessing disease progression.

Purpose of the Study:

• To analyze spectral-domain optical coherence tomography (SD-OCT)-specific findings in the different stages of vitelliform macular dystrophy (VMD).
• To stratify SD-OCT findings according to VMD stage and describe characteristics of intraretinal hyperreflective foci.

Main Methods:

• Prospective recruitment of 37 patients with VMD.
• Comprehensive ophthalmologic examination including best-corrected visual acuity (BCVA) and SD-OCT.
• Evaluation of vitelliform material, neurosensory detachment, hyperreflective foci, and outer retinal layer integrity (External Limiting Membrane, Ellipsoid Zone, Retinal Pigment Epithelium).

Main Results:

• Outer retinal layers were preserved in stage 1 but showed progressive disruption and absence in stages 2-5.
• Vitelliform material was consistently found in stages 2-3, present in 89% of stage 4, and rare in stage 5 (33%).
• Neurosensory detachment increased in stages 3-4 (80%, 72%). Hyperreflective foci (16% of eyes) increased from stages 2-4, located in outer nuclear/plexiform layers, without visual acuity correlation.

Conclusions:

• Advanced VMD stages exhibit progressive outer retinal layer deterioration.
• Reduced vitelliform material in stages 3-4 correlates with increased neurosensory detachment.
• Hyperreflective foci, regardless of size or location, do not correlate with reduced BCVA in VMD.