@article{oai:nagoya.repo.nii.ac.jp:00022917,
 author = {Nakanishi, Ayami and Ueno, Shinji and Hayashi, Takaaki and Katagiri, Satoshi and Kominami, Taro and Ito, Yasuki and Gekka, Tamaki and Masuda, Yoichiro and Tsuneoka, Hiroshi and Shinoda, Kei and Hirakata, Akito and Inoue, Makoto and Fujinami, Kaoru and Tsunoda, Kazushige and Iwata, Takeshi and Terasaki, Hiroko},
 journal = {American Journal of Ophthalmology},
 month = {Aug},
 note = {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.},
 pages = {86--94},
 title = {Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort},
 volume = {168},
 year = {2016}
}