Documenta ophthalmologica. Advances in ophthalmology · 2025
Characterization of functional and structural impairments in best vitelliform macular dystrophy using visual electrophysiology and optical coherence tomography in pediatric and adult patients.
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Polosa Anna, Lu Melissa, Dorfman Allison L, Masis-Solano Marisse, Costantino Santiago, Qian Cynthia X
Аннотация
PURPOSE: To assess functional and anatomical impairments in pediatric patients and their affected adult family members with juvenile-onset Best vitelliform macular dystrophy (BVMD).
METHODS: Fifteen 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.
RESULTS: Children 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 mm3] compared to adults [1.80 ± 0.79 mm3, p < 0.001]. Interestingly, in 3 eyes in Stage 3 disease (pseudohypopyon stage), despite a high lesion volume (1.74 ± 0.66 mm3), a good visual acuity was still observed (LogMAR of 0.00 in all 3 eyes). Multifocal ERG (mfERG) revealed macular dysfunction in all patients mostly pronounced in the 3 central rings [% of P1 reduction from control in Ring 1 in children and adults: 51% and 51%, Ring 2: 17% and 36% and Ring 3: 8% and 15%, respectively]. Furthermore, higher lesion volumes showed more affected mfERG responses. Full-field flash ERGs were normal in children, while reduced amplitudes and delayed responses were observed in some adults.
CONCLUSION: While 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.
METHODS: Fifteen 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.
RESULTS: Children 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 mm3] compared to adults [1.80 ± 0.79 mm3, p < 0.001]. Interestingly, in 3 eyes in Stage 3 disease (pseudohypopyon stage), despite a high lesion volume (1.74 ± 0.66 mm3), a good visual acuity was still observed (LogMAR of 0.00 in all 3 eyes). Multifocal ERG (mfERG) revealed macular dysfunction in all patients mostly pronounced in the 3 central rings [% of P1 reduction from control in Ring 1 in children and adults: 51% and 51%, Ring 2: 17% and 36% and Ring 3: 8% and 15%, respectively]. Furthermore, higher lesion volumes showed more affected mfERG responses. Full-field flash ERGs were normal in children, while reduced amplitudes and delayed responses were observed in some adults.
CONCLUSION: While 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.