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Emily Witsberger, Alan D Marmorstein, Jose S Pulido; Diffuse Outer Layer Opacification (DOLO) in Patients with Autosomal Recessive Bestrophinopathy. Invest. Ophthalmol. Vis. Sci. 2019;60(9):1547.
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© ARVO (1962-2015); The Authors (2016-present)
Autosomal recessive bestrophinopathy (ARB) is a rare inherited retinal dystrophy that results from mutations in the BEST1 gene which affect functioning of the retinal pigment epithelium (RPE). ARB has the most severe phenotypic spectrum of disease of the bestrophinopathies, and presents at a juvenile age. Like the other bestrophinopathies, descriptions of disease findings in patients with ARB to date have focused only on the macula. However, in this case series we are providing a report of previously undescribed mid-peripheral retinal changes occurring in four patients with ARB.
A single-center, retrospective review of medical records from patients with ARB who were examined at Mayo Clinic was performed. Imaging reviewed from each patient included fundus photography, fundus autofluorescence imaging, spectral domain optical coherence tomography, and fluorescein angiography. Demographic information and disease progression were also noted.
Four affected patients from three unrelated families were identified. All four patients were females, and their mean age was 12.5 years at first presentation (range 5-19 years). In each patient, diffuse mid-peripheral whitening was consistently noted on fundus photography, regardless of disease stage. Other pathologic imaging findings noted in each patient were in agreement with previous reports of ARB, with varying phenotypic severity.
This is the first descriptive report of pathologic findings in the retinal midperiphery in patients with ARB. This newly reported evidence of diffuse disease by multimodal imaging allows clinical visualization of the fact that all RPE cells can be affected by BEST1mutations. Continued efforts in characterizing the functional deficits in ARB will help further our understanding of how and why it primarily manifests as a macular degenerative disease.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.
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