Abstract
Purpose
Our aim was to analyze retinal structure in young patients with Best disease with reference to future gene therapy.
Methods
This was a retrospective observational spectral domain optical coherence tomography study of four patients aged 10 years or less with Best disease.
Results
Findings ranged from subtle thickening at the level of the retinal pigment epithelium-photoreceptor interdigitation line, to subretinal fluid and precipitate-like changes at the level of the photoreceptor outer segments, and further to choroidal neovascularization. The photoreceptor inner segment ellipsoid layer could be visualized seemingly undisturbed above the vitelliform lesions, except in the case of choroidal neovascularization.
Conclusions
Clinical variability is evident even among young patients aged 10 years or less with Best disease. The earliest structural alterations seem to occur at the level of the retinal pigment epithelium-photoreceptor interdigitation line. The photoreceptor inner segment seems to be unaffected unless choroidal neovascularization develops, which seems promising regarding future gene therapy.
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Acknowledgments
We appreciate the technical assistance with imaging modalities provided by Ms. Hajer Ahmad Al-Abaiji at the Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark and Mr Johnny Ring at the Department of Ophthalmology, Clinical Sciences, Lund University, Sweden.
Funding/support
Grants from the Cronqvist Stiftelse of the Swedish Society of Medicine, Eye Foundation, Dag Lenard Foundation, and Foundation for the Visually Impaired in Skane County.
Contributions to authors
Design of the study (PS, DS, SAH, SA, ML).
Conduct of the study (PS, DS, SAH, SA, ML).
Collection, management, analysis, and interpretation of the data (PS, DS, SAH, SA, ML).
Preparation, review and approval of the manuscript (PS, DS, SAH, SA, ML).
Statement
Patrik Schatz had full access to all of the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis
Conflict of interest
All authors certify that they have NO affiliations with or involvement in any organization or entity with any financial interest (such as honoraria; educational grants; participation in speakers’ bureaus; membership, employment, consultancies, stock ownership, or other equity interest; and expert testimony or patent-licensing arrangements), or non-financial interest (such as personal or professional relationships, affiliations, knowledge or beliefs) in the subject matter or materials discussed in this manuscript.
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Grant support is listed in the Acknowledgements section. None of the authors have any propriety interest in the materials described in the manuscript.
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Schatz, P., Sharon, D., Al-Hamdani, S. et al. Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy. Graefes Arch Clin Exp Ophthalmol 254, 215–221 (2016). https://doi.org/10.1007/s00417-015-3025-z
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DOI: https://doi.org/10.1007/s00417-015-3025-z