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Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB)

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Abstract

The objective of the paper is to study the retinal microstructure and function in a patient with autosomal recessive bestrophinopathy (ARB). Retinal function and morphology assessment in a patient diagnosed with a biallelic mutation in the BEST1 gene (heterozygote mutations: Leu88del17 and A195V) included: full-field electroretinogram (ffERG) and multifocal electroretinogram (mfERG), electro-oculogram (EOG) testing, and imaging with a high-resolution Fourier-domain optical coherence tomography (Fd-OCT) system (UC Davis Medical Center; axial resolution: 4.5 μm, acquisition speed: 9 frames/s, 1,000 A-scans/frame) combined with a flexible scanning head (Bioptigen Inc.). The 11-year old asymptomatic boy showed a well-demarcated retinopathy with deposits. Functional assessment revealed normal visual acuity, reduced central mfERG responses, delayed rod and rod-cone b-wave ffERG responses, and reduced light rise in the EOG. Fd-OCT demonstrated RPE deposits, photoreceptor detachment, elongated and thickened photoreceptor outer segments, but preserved inner retinal layers. In conclusion, ARB associated retinal dystrophy shows functional and morphological changes that overlap with classic Best disease. For the first time, high-resolution imaging provided in vivo evidence of RPE and photoreceptor involvement in ARB.

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Abbreviations

EOG:

Electro-oculogram

Fd-OCT:

Fourier-domain optical coherence tomography

ffERG:

Full-field electroretinogram

ISCEV:

International Society for Clinical Electrophysiology of Vision

mfERG:

Multifocal electroretinogram

RPE:

Retinal pigment epithelium

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Acknowledgments

This study was supported by NIH/NEI grant 014743 (JSW), Research to Prevent Blindness Senior Scientist Award (JSW), the Mira Godard Fund (EH) and the Albrecht Fund (JSW) in collaboration with Bioptigen, Inc. We thank Yesmino Elia for study coordination, Carmelina Trimboli-Heidler for fundus photography, and Tom Wright and Carole Panton for help with data analysis.

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Authors and Affiliations

  1. Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, Canada

    Christina Gerth & Elise Héon

  2. Department of Ophthalmology, University of Rostock, Doberaner Street 140, Rostock, 18055, Germany

    Christina Gerth

  3. Department of Ophthalmology & Vision Science, Vision Science and Advanced Retinal Imaging Laboratory (VSRI), University of California, Davis, USA

    Robert J. Zawadzki & John S. Werner

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  1. Christina Gerth
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  2. Robert J. Zawadzki
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  3. John S. Werner
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  4. Elise Héon
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Correspondence to Christina Gerth.

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Gerth, C., Zawadzki, R.J., Werner, J.S. et al. Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB). Doc Ophthalmol 118, 239–246 (2009). https://doi.org/10.1007/s10633-008-9154-5

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  • DOI: https://doi.org/10.1007/s10633-008-9154-5

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