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Purpose <p>To assess functional and anatomical impairments in pediatric patients and their affected adult family members with juvenile-onset Best vitelliform macular dystrophy (BVMD).</p> Methods <p>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.</p> Results <p>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, <i>p</i> &lt; 0.001], and displayed lower lesion volumes [0.93 ± 0.71 mm<sup>3</sup>] compared to adults [1.80 ± 0.79 mm<sup>3</sup>, <i>p</i> &lt; 0.001]. Interestingly, in 3 eyes in Stage 3 disease (pseudohypopyon stage), despite a high lesion volume (1.74 ± 0.66 mm<sup>3</sup>), 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.</p> Conclusion <p>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.</p>

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Characterization of functional and structural impairments in best vitelliform macular dystrophy using visual electrophysiology and optical coherence tomography in pediatric and adult patients

  • 期刊论文

  • 发表日期：

    2025年11月12日

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  • Anna Polosa,
  • Melissa Lu,
  • Allison L. Dorfman,
  • Marisse Masis-Solano,
  • Santiago Costantino,
  • Cynthia X. Qian

摘要

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.