INTRARETINAL HYPERREFLECTIVE FOCI IN BEST VITELLIFORM MACULAR DYSTROPHY

Area of Science:

• Ophthalmology
• Medical Imaging
• Genetics

Background:

• Best vitelliform macular dystrophy (BVMD) is an inherited macular disease.
• Spectral domain optical coherence tomography (SD-OCT) is crucial for visualizing retinal structures.
• Hyperreflective foci (HF) are potential indicators of retinal pathology.

Purpose of the Study:

• To investigate the presence and characteristics of HF in BVMD patients using SD-OCT.
• To correlate HF findings with different stages of BVMD.
• To assess the relationship between HF and best-corrected visual acuity (BCVA).

Main Methods:

• Prospective cross-sectional study of BVMD patients and controls.
• Ophthalmologic examination including BCVA and SD-OCT.
• Identification and quantification of intraretinal HF in relation to disease stage.

Main Results:

• HF were present in 83% of BVMD eyes, notably in later stages (Stages 4 & 5).
• HF were predominantly small and located in the outer nuclear layer, often in the macula.
• A significant increase in HF was observed in Stage 4 compared to earlier stages, and BCVA worsened with increasing HF count.

Conclusions:

• SD-OCT effectively identifies HF in BVMD.
• HF presence and number correlate with BVMD stage and severity.
• HF may serve as a valuable biomarker for monitoring BVMD progression.