Ocular manifestations in a patient with de novo Fabry disease
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
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.
Abstract
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.
참고문헌 (8)
- Terryn W, "Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice", Nephrol Dial Transplant, 28, pp.505~517 (2013)
- Pisani A, "Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature", Mol Genet Metab, 107, pp.267~275 (2012)
- Iemolo F, "De novo mutation in a male patient with Fabry disease:a case report", BMC Res Notes, 7, pp.11~ (2014)
- Samiy N, "Ocular features of Fabry disease: diagnosis of a treatable life-threatening disorder", Surv Ophthalmol, 53, pp.416~423 (2008)
- Sher NA, "The ocular manifestations in Fabry’s disease", Arch Ophthalmol, 97, pp.671~676 (1979)
- 이희경, "한 가족에서 발생한 파브리병 환자 및 파브리병 보인자 9예", 대한안과학회지, 47(9), pp.1496~1501 (2006), 대한안과학회
- Pisani A, "Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease", BMC Res Notes, 8, pp.711~ (2015)
- Branton MH, "Natural history of Fabry renal disease:influence of alpha-galactosidase A activity and genetic mutations on clinical course", Medicine (Baltimore), 81, pp.122~138 (2002)