July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
Multimodal Imaging in Best Vitelliform Macular Dystrophy
Author Affiliations & Notes
  • Jose R. Carvalho-Jr
    Hospital das Clinicas de Pernambuco-Empresa Brasileira de Servicos Hospitalares (EBSERH), Department of Ophthalmology, Federal University of Pernambuco, Recife, Pernambuco, Brazil
    Department of Ophthalmology, Columbia University, New York, New York, United States
  • Winston Lee
    Department of Ophthalmology, Columbia University, New York, New York, United States
  • Maarjaliis Paavo
    Department of Ophthalmology, Columbia University, New York, New York, United States
  • Karen Sophia Park
    Department of Ophthalmology, Columbia University, New York, New York, United States
    Jonas Children’s Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Columbia University, New York, New York, United States
  • Lijuan Chen
    Department of Ophthalmology, Columbia University, New York, New York, United States
  • Stephen Tsang
    Jonas Children’s Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Columbia University, New York, New York, United States
    Department of Ophthalmology, Columbia University, New York, New York, United States
  • Janet R Sparrow
    Department of Ophthalmology, Columbia University, New York, New York, United States
  • Footnotes
    Commercial Relationships   Jose R. Carvalho-Jr, None; Winston Lee, None; Maarjaliis Paavo, None; Karen Park, None; Lijuan Chen, None; Stephen Tsang, None; Janet Sparrow, None
  • Footnotes
    Support  NIH [P30EY019007, R01EY018213, R01EY024698, R01EY026682, R21AG050437], Foundation Fighting Blindness [TA-NMT-0116-0692-COLU], Research to Prevent Blindness (RPB) Physician-Scientist Award, Global Ophthalmology Awards Program (GOAP), a Bayer-sponsored initiative committed to supporting ophthalmic research across the world.
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 5013. doi:https://doi.org/
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    • Get Citation

      Jose R. Carvalho-Jr, Winston Lee, Maarjaliis Paavo, Karen Sophia Park, Lijuan Chen, Stephen Tsang, Janet R Sparrow; Multimodal Imaging in Best Vitelliform Macular Dystrophy. Invest. Ophthalmol. Vis. Sci. 2019;60(9):5013. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : To assess RPE integrity within and outside the vitelliform lesion by analysis of short wavelength (SW-AF) and near-infrared fundus autofluorescence (NIR-AF) quantitative analysis and spectral domain optical coherence tomography (SD-OCT).

Methods : Fourteen patients heterozygous for BEST1 were recruited. Each patient had a complete ophthalmologic evaluation and the images were acquired. Best Vitelliform Macular Dystrophy (BVMD) patients were staged according to OCT findings. Quantitative autofluorescence (qAF) imaging was performed using SW-AF images generated by Spectralis HRA+OCT (Heidelberg Engineering, Germany) equipped with an internal fluorescent reference. Mean gray levels were determined in eight concentric segments at an eccentricity of approximately 7 to 9° from the fovea and the outer contour of the high AF signal was used as the outer limits of the lesion. An HRA2 (Heidelberg Engineering, Germany) (787 nm; sensitivity of 96) was used to capture NIR-AF images that were saved in the non-normalized mode. ImageJ (Microsoft Java 1.1.4) was used to quantify the NIR-AF image. SD-OCT images were also acquired with the Spectralis HRA+OCT.

Results : We analyzed 28 eyes from 14 patients with BVMD. One patient was excluded from the quantitative analysis because lesion size and position precluded measurements outside the lesion. SW-AF images within the lesion varied with the stage of disease from normal in pre-clinical to a mottled pattern in vitelliruptive stage. NIR-AF imaging revealed an area of reduced fluorescence in pre-vitelliform stage while in vitelliruptive stage puncta of elevated signal were present. In both SW and NIR-AF images the atrophic stage had reduced signal. Importantly, non-lesion qAF was within the 95% confidence intervals for healthy eyes, independent of the stage of the disease. Similarly, the NIR-AF intensity measurements outside lesion were comparable to the control eyes. SD-OCT scans revealed a fluid-filled detachment between the interdigitation zone (IZ) and the hyperreflectivity band attributable to RPE/Bruch’s membrane.

Conclusions : Mutations in BEST1 are not associated with increased levels of SW-AF outside the vitelliform lesion. The high levels of SW-AF within the vitelliform lesion likely reflect the inability of RPE to phagocytose shed outer segment membrane due to the fluid-filled separation between RPE and photoreceptor cells together with progression photoreceptor cell impairment.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

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