Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort  

Oleh:

Nakanishi, Ayami ; Ueno, Shinji ; Hayashi, Takaaki ; Kominami, Taro ; Ito, Yasuki ; Gekka, Tamaki ; Masuda, Yoichiro ; Tsuneoka, Hiroshi ; Shinoda, Kei ; Hirakata, Akito ; Inoue, Makoto ; Fujinami, Kaoru ; Tsunoda, Kazushige ; Iwata, Takeshi ; Terasaki, Hiroko

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: American Journal of Ophthalmology (keterangan: ada di ClinicalKey) vol. 168 (Aug. 2016), page 86-94.
Topik: Autosomal Recessive Bestrophinopathy; ARB
Fulltext: A12 v168 p86 kelik2016.pdf (2.16MB)

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Perpustakaan FK Nomor Panggil: A12.K Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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.

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