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
- 저널정보
- 영남대학교 의과대학 Journal of Yeungnam Medical Science Yeungnam University Journal of Medicine 제35권 제2호
- 발행연도
- 2018.1
- 수록면
- 232 - 235 (4page)
이용수
초록· 키워드
오류제보하기
Fabry disease (FD) is an X-linked, recessively inherited, rare, progressive, disorder of glycosphingolipid metabolism affecting multiple organs resulting in organ dysfunction. It is rare to find only one FD affected subject with a de novo mutation. Here we report a case of a 41-year-old Asian male diagnosed with de novo FD. Comprehensive ophthalmological evaluation was performed using slit lamp, color fundus photography, optical coherence tomography, fluorescein angiography, and indocyanine green angiography. On slit lamp examination, cornea verticillata and slightly tortuous, and aneurysmal dilatation of inferior bulbar conjunctival vessels were observed. Other imaging modalities showed unremarkable findings. Cornea verticillata and inferior bulbar conjunctival vascular abnormalities may be detected earlier than other ocular abnormalities in de novo FDs like hereditary FDs.
목차
등록된 정보가 없습니다.
참고문헌 (8)
참고문헌 신청
Terryn W / 2013 / Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice / Nephrol Dial Transplant 28:505~517
Pisani A / 2012 / Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature / Mol Genet Metab 107:267~275
Iemolo F / 2014 / De novo mutation in a male patient with Fabry disease:a case report / BMC Res Notes 7:11
Samiy N / 2008 / Ocular features of Fabry disease: diagnosis of a treatable life-threatening disorder / Surv Ophthalmol 53:416~423
Sher NA / 1979 / The ocular manifestations in Fabry’s disease / Arch Ophthalmol 97:671~676
Pisani A / 2012 / Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature / Mol Genet Metab 107:267~275
Iemolo F / 2014 / De novo mutation in a male patient with Fabry disease:a case report / BMC Res Notes 7:11
Samiy N / 2008 / Ocular features of Fabry disease: diagnosis of a treatable life-threatening disorder / Surv Ophthalmol 53:416~423
Sher NA / 1979 / The ocular manifestations in Fabry’s disease / Arch Ophthalmol 97:671~676
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