Outer Retinal Alterations Associated With Visual Outcomes in Best Vitelliform Macular Dystrophy

Area of Science:

• Ophthalmology
• Retinal Imaging
• Genetic Eye Diseases

Background:

• Best vitelliform macular dystrophy (BVMD) is an inherited macular disease characterized by the accumulation of lipofuscin-like material in the retinal pigment epithelium.
• Spectral-domain optical coherence tomography (OCT) is a crucial imaging modality for visualizing retinal microstructures.

Purpose of the Study:

• To characterize outer retinal morphology in BVMD patients using spectral-domain OCT.
• To correlate OCT findings with best-corrected visual acuity (BCVA) and patient age in BVMD.

Main Methods:

• A retrospective cross-sectional study comparing 42 BVMD patients with 42 normal controls (NCs).
• Clinical evaluation included BCVA, fundus photography, spectral-domain OCT, and fundus autofluorescence.
• OCT analysis focused on lesion stage, central macular thickness (CMT), outer nuclear layer (ONL) thickness, and structural changes.

Main Results:

• ONL thickness was significantly reduced in BVMD patients compared to NCs (P < .001).
• BCVA significantly correlated with disease stage, age, CMT, and ONL thickness (P < .01 for all).
• Disruption of the external limiting membrane and ellipsoid zone was associated with decreased BCVA (P < .001).

Conclusions:

• Outer retinal structural integrity, particularly ONL thickness and photoreceptor outer segment length, are significant functional correlates in BVMD.
• These OCT-derived parameters serve as valuable outcome measures for assessing photoreceptor impairment and disease progression in BVMD.