ArticleDocumenta ophthalmologica. Advances in ophthalmology2026
Characterization of functional and structural impairments in best vitelliform macular dystrophy using visual electrophysiology and optical coherence tomography in pediatric and adult patients.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Review of the clinical electrooculogram - Part 2: the bestrophinopathies and modified protocols.Documenta ophthalmologica. Advances in ophthalmology · 2026Review
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6 authors.
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Abstract
purposeTo assess functional and anatomical impairments in pediatric patients and their affected adult family members with juvenile-onset Best vitelliform macular dystrophy (BVMD).
methodsFifteen genetically confirmed BVMD patients (10 pediatric and 5 adults) underwent a comprehensive ophthalmic examination with multimodal imaging and electrophysiological testing. We quantified BVMD lesion volumes using sequential spectral-domain OCT (SD-OCT) scans, facilitating correlation with clinical parameters and electroretinogram (ERG) findings.
resultsChildren presented less advanced stages of BVMD than adults, had better visual acuity [Log MAR 0.13 ± 0.17] than adults [Log MAR 0.91 ± 0.52, p < 0.001], and displayed lower lesion volumes [0.93 ± 0.71 mm
conclusionWhile juvenile presentations of BVMD are less severe and more circumscribed, adult presentations demonstrate more widespread functional abnormalities in both amplitude and implicit times correlated with anatomical progression and clinical progression. Interestingly, mfERG responses in children with 20/20 vision also revealed functional impairment, correlating more strongly with the degree of vitelliform liquefaction on OCT than with visual acuity. Our findings suggest that mfERG may serve as an early, reliable indicator of functional defects in BVMD.
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