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Ayami Nakanishi, Shinji Ueno, Taro Kominami, Yasuki Ito, Takaaki Hayashi, Satoshi Katagiri, Takeshi Iwata, Hiroko Terasaki; Diminished density of cone photoreceptors in fovea of eyes with autosomal recessive bestrophinopathy. Invest. Ophthalmol. Vis. Sci. 2016;57(12):5107.
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© ARVO (1962-2015); The Authors (2016-present)
Autosomal recessive bestrophinopathy (ARB) is an inherited retinal disease caused by biallelic variants of the BEST1 gene. Variants of BEST1 gene can cause RPE dysfunction and subsequent alterations of the neurosensory retina. The purpose of this study was to report the density of the cone photoreceptors in eyes with ARB.
Five ARB patients were studied. The diagnosis of ARB was made by the visual acuity, funduscopic examinations, fundus autofluorescence images, electroocculograms, and optical coherence tomography. Biallelic variants of BEST1 gene were confirmed to be present by directed sequencing. AO fundus imaging was performed by flood-illuminated AO camera (rtx1; Imagine Eyes, Orsay, France), and the cone density was analyzed.
A contiguous array of cone photoreceptors was observed in four of the five patients within the area of the serous retinal detachment and retinal edema. The visual acuity of these four patients was only mildly reduced (none worse than 20/40). However, the cone density in the central fovea was highly reduced with a range of 33,006 to11,586 cells /mm2 which is about 10-20% of that of normal subjects shown in histological studies. The appearance of the cone mosaics was altered partly by hyporeflective and mound-like shapes in the surrounding foveal area.
Analysis of the cone photoreceptors of ARB patients by AO imaging showed that cone mosaics were clearly present even in the detached regions, but the cone density of the fovea was markedly reduced even though the patients had relatively good visual acuity.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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