Journal
AMERICAN JOURNAL OF OPHTHALMOLOGY
Volume 168, Issue -, Pages 86-94Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.ajo.2016.04.023
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Funding
- JSPS KAKENHI [25462709, 25462738, 30255525, 26462674]
- Japan Agency for Medical Research and Development (AMED) [15ek0109072h0002]
- Santen Pharmaceutical Co, Ltd, Japan
- Novartis Pharma K.K., Japan
- Bayer Yakuhin, Ltd, Japan
- Pfizer Japan Inc
- Senju Pharmaceutical Co, Ltd, Japan
- Abbott Medical Optics Inc, Japan
- Wakamoto Pharmaceutical Co, Ltd, Japan
- R-Tech Ueno, Ltd., Japan
- Alcon Japan Ltd, Japan
- DAIICHI SANKYO COMPANY, LIMITED, Japan
- Mitsubishi Tanabe Pharma Corporation, Japan
- HOYA CORPORATION, Japan
- NIDEK CO, LTD, Japan
- Otsuka Pharmaceutical Co, Ltd, Japan
- MSD K.K., Japan
- KOWA PHARMACEUTICAL COMPANY LTD, Japan
- Pfizer Japan Inc, Japan
- WAKAMOTO Co, Ltd, Japan
- Grants-in-Aid for Scientific Research [26462674, 25462738] Funding Source: KAKEN
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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. ((C) 2016 Elsevier Inc. All rights reserved.)
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