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Nakanishi, Ayami, MD, PhD*; Ueno, Shinji, MD, PhD*; Hayashi, Takaaki, MD, PhD; Katagiri, Satoshi, MD, PhD; Ito, Yasuki, MD, PhD*; Kominami, Taro, MD, PhD*; Fujinami, Kaoru, MD, PhD; Tsunoda, Kazushige, MD, PhD; Iwata, Takeshi, PhD§; Terasaki, Hiroko, MD, PhD*

doi: 10.1097/IAE.0000000000002363
Original Study: PDF Only

Purpose: To assess the morphological changes of cone photoreceptors in eyes with autosomal recessive bestrophinopathy.

Methods: Both eyes of five patients with autosomal recessive bestrophinopathyunderwent spectral domain optical coherence tomography and adaptive optics fundus imaging. The cone photoreceptor densities were measured at intervals of 100 μm between 500 μm nasal and temporal eccentricities from the foveal center.

Results: The median age of the patients was 30 years (range, 23–45 years), and the best-corrected visual acuity ranged from 20/20 to 20/80. Adaptive optics fundus images showed reduced cone photoreceptor densities corresponding to the damages of the photoreceptor layer in the spectral domain optical coherence tomography images in four patients with relatively good best-corrected visual acuity. The cone photoreceptor densities at the center of the fovea were less than one-third of the normal cone densities (range 11,600–30,400 cells/mm2). Cone photoreceptor mosaics were visible over the lesions with serous retinal detachment and retinal edema, although they were partially hyporeflective.

Conclusion: There is a significant cone photoreceptor loss in the macular region of patients with autosomal recessive bestrophinopathy, although they had relatively good visual acuity. Monitoring cone photoreceptors by adaptive optics fundus imaging should provide accurate assessments of the disease status and indications for future therapeutic interventions.

Autosomal recessive bestrophinopathy is an inherited retinal dystrophy caused by biallelic variants of the BEST1 gene. In this observational case series of five patients with autosomal recessive bestrophinopathy, adaptive optics fundus imaging revealed that the cone photoreceptor densities in the macula region were significantly reduced despite relatively good visual acuity.

*Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan;

Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan;

Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Tokyo, Japan; and

§Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.

Reprint requests: Shinji Ueno, MD, PhD, Department of Ophthalmology, Nagoya University Graduate School of Medicine, 65 Tsuruma-cho, Showa-ku, Nagoya 466-8550, Japan; e-mail:

Supported by Grants-in-Aid for Scientific Research C (#25462709 to S.U. and #25462710 to Y.I.), Japan Society for the Promotion of Science.

Presented in part as a poster at the Association for Research in Vision and Ophthalmology Annual Meeting 2016, Seattle, WA, May 4, 2016.

None of the authors has any conflicting interests to disclose.

© 2019 by Ophthalmic Communications Society, Inc.