지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 93 - 96 (4page)
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초록· 키워드
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Purpose: We aimed to report a patient with autosomal recessive bestrophinopathy (ARB) who have novel compound heterozygous mutations in BEST1. Case summary: A 35-year old male patient who had no history of known trauma and disease was admitted to our hospital with bilateral visual disturbance since his childhood. Dilated fundus examination revealed widespread yellow-white subretinal accumulation and white scar formation on both posterior poles. Hyperfluorescent foci were observed along the vessel arcades in fundus autofluorescence imaging. Optical coherence tomography showed serous subretinal fluid under the bilateral macula. Arden rate was found to be 1.32 for right eye and 1.28 for left eye in the electrooculography examination. Bestrophinopathy was considered in the patient and a genetic examination test was performed for BEST1 gene. The whole gene sequence analysis test (Miseq-Illumina) performed on the BEST1 gene of the patient resulted in c.604C>T (p.Arg202Trp) (pR202W) /c.1013G>A (p.Trp338 *) (p.W338*) compound heterozygous mutation. Conclusions: ARB is a rare disease and usually associated with consanguineous marriage, the disease may also occur with different mutations of both spouses. For this reason, it is important that ophthalmologists consider the possibility of best retinopathy even in the absence of a consanguineous history.
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