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Am J Ophthalmol. 2016 Aug;168:86-94. doi: 10.1016/j.ajo.2016.04.023. Epub 2016 May 7.

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort.

Author information

1
Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
2
Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan. Electronic address: ueno@med.nagoya-u.ac.jp.
3
Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
4
Department of Ophthalmology, Teikyo University School of Medicine, Tokyo, Japan.
5
Department of Ophthalmology, Kyorin University School of Medicine, Tokyo, Japan.
6
Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Tokyo, Japan.
7
Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Tokyo, Japan.

Abstract

PURPOSE:

To report the clinical and genetic findings of 9 Japanese patients with autosomal recessive bestrophinopathy (ARB).

DESIGN:

Retrospective, multicenter observational case series.

METHODS:

Nine ARB patients from 7 unrelated Japanese families that were examined in 3 institutions in Japan were studied. A series of ophthalmic examinations including fundus photography, spectral-domain optical coherence tomography, fundus autofluorescence, electrooculography (EOG), electroretinography, and the results of genetic analysis were reviewed.

RESULTS:

Genetic analyses identified 7 pathogenic variants in BEST1 including 2 novel variants, c.478G>C (p.A160P) and c.948+1delG. Homozygous variants were found in 4 families and compound heterozygous variants were found in 3 families. Two patients were diagnosed as ARB only after the whole exome sequencing analyses. The Arden ratio of the EOG was less than 1.5 in all 7 patients tested. Vitelliform lesions typical for Best vitelliform macular dystrophy were not seen in any of the patients. Seven patients shared some of the previously described features of ARB: subretinal deposits, extensive subretinal fluid, and cystoid macular edema (CME). However, the other 2 patients with severe retinal degeneration lacked these features. Focal choroidal excavations were present bilaterally in 2 patients. One case had a marked reduction of the CME and expansion of subretinal deposits over an 8-year of follow-up period.

CONCLUSIONS:

Japanese ARB patients had some but not all of the previously described features. Genetic analyses are essential to diagnose ARB correctly in consequence of considerable phenotypic variations.

PMID:
27163236
DOI:
10.1016/j.ajo.2016.04.023
[Indexed for MEDLINE]

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