Outer retinal structure in best vitelliform macular dystrophy.

Area of Science:

• Ophthalmology
• Retinal Imaging
• Genetics

Background:

• Best vitelliform macular dystrophy (BVMD) is an inherited retinal degeneration.
• Current imaging modalities may not fully capture subtle outer retinal changes in BVMD.

Purpose of the Study:

• To demonstrate the utility of adaptive optics scanning light ophthalmoscopy (AOSLO) for assessing outer retinal structure in BVMD.
• To characterize the photoreceptor layer in BVMD using both spectral-domain optical coherence tomography (SD-OCT) and AOSLO.

Main Methods:

• A prospective, observational case series of four symptomatic members of a family with BVMD.
• Outer retinal layer thickness was measured with SD-OCT.
• Photoreceptor mosaic imaging and cone density assessment were performed using AOSLO.

Main Results:

• AOSLO visualized photoreceptor disruption at all stages of BVMD.
• Substantial photoreceptor structure was retained within active BVMD lesions.
• Areas adjacent to lesions showed normal photoreceptor structure and density.
• Fine hyperreflective structures consistent with Henle fibers were observed.

Conclusions:

• AOSLO provides detailed cellular-level assessment of outer retinal structure in BVMD.
• Significant photoreceptor integrity within lesions contributes to preserved visual acuity.
• AOSLO enhances understanding of the cellular spectrum in inherited retinal degenerations like BVMD.