속발개방각녹내장과 유리체혼탁으로 발현된 가족성 아밀로이드 다발신경병증
Secondary Open-angle Glaucoma and Vitreous Opacity as Presenting Manifestations of Familial Amyloid Polyneuropathy
0
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
목적: 개방각녹내장과 점차 증가하는 유리체혼탁을 보인 환자에서 가족성 아밀로이드 다발신경병증이 진단되어 이를 보고하고자 한다. 증례요약: 62세 여자 환자가 약물 치료로 조절되지 않는 좌안 고안압에 대해 내원하였다. 고혈압 외에 다른 전신질환의 기왕력은 없었다. 좌안 섬유주절제술을 시행하였고, 수술 후 13개월째 우안 안압이 50 mmHg으로 갑자기 상승한 후 약물 치료에도 조절되지 않아 우안도 섬유주절제술을 시행하였다. 양안 전방각은 넓고 개방되어 있었으며 다른 이상 소견은 없었다. 양안 유리체혼탁이 점차 증가하는 양상을 보였다. 환자가 발저림 증상을 호소하여 신경학적 검사를 시행하였으며 가족성 아밀로이드 다발신경병증으로 확진되었다. 결론: 안압이 높은 개방각녹내장 환자에서 진행하는 유리체혼탁이 보이는 경우 드물지만 가족성 아밀로이드 다발신경병증 및 이로 인한 속발녹내장의 가능성을 염두에 둬야 할 것으로 보인다.
Abstract
Purpose: We report a case of familial amyloid polyneuropathy in a patient presenting with open-angle glaucoma and progressive vitreous opacity. Case summary: A 62-year-old female patient presented with uncontrolled intraocular pressure (IOP) in the left eye that did not respond to medical treatment. She had no history of systemic diseases other than hypertension. Trabeculectomy was performed in the left eye. Thirteen months later, as IOP in the right eye suddenly increased to 50 mmHg and was not controlled, trabeculectomy was also performed in the right eye. Anterior chamber angle was wide and open in both eyes and there were no abnormalities. Vitreous opacity increased gradually in both eyes. Neurological examination was conducted as the patient complained of numbness in the feet, and a diagnosis of familial amyloid polyneuropathy was confirmed. Conclusions: Although rare, familial amyloid polyneuropathy and secondary glaucoma should be considered as differential diagnoses in open-angle glaucoma patients showing high intraocular pressure accompanied by progressive vitreous opacity.
참고문헌 (29)
- Aryasit O, "Clinical presentation, treatment, and prognosis of periocular and orbital amyloidosis in a university-based referral center", Clin Ophthalmol, 7, pp.801~805 (2013)
- Picken MM, "Amyloidosis-where are we now and where are we heading?", Arch Pathol Lab Med, 134, pp.545~551 (2010)
- Caggiati A, "Primary amyloidosis of the eyelid: a case report", In Vivo, 24, pp.575~578 (2010)
- Brownstein MH, "Ophthalmologic aspects of amyloidosis", Am J Ophthalmol, 69, pp.423~430 (1970)
- Gean-Marton AD, "Focal amyloidosis of the head and neck: evaluation with CT and MR imaging", Radiology, 181, pp.521~525 (1991)
- Song BR, "Primary localized amyloidosis of bulbar conjunctiva and cornea", J Korean Ophthalmol Soc, 34, pp.352~356 (1993)
- 한선협, "외안근을 침범한 원발 국소아밀로이드증", 대한안과학회지, 60(12), pp.1301~1306 (2019), 대한안과학회
- Ando Y, "Role of autonomic nerve functions in patients with familial amyloidotic polyneuropathy as analyzed by laser Doppler flowmetry, capsule hydrograph, and cardiographic R-R interval", Muscle Nerve, 15, pp.507~512 (1992)
- Ando Y, "Disturbed metabolism of glucose and related hormones in familial amyloidotic polyneuropathy: hypersensitivities of the autonomic nervous system and therapeutic prevention", J Auton Nerv Syst, 35, pp.63~70 (1991)
- Sandgren O, "Ocular amyloidosis, with special reference to the hereditary forms with vitreous involvement", Surv Ophthalmol, 40, pp.173~196 (1995)
- Koga T, "Vitreous opacities and outcome of vitreous surgery in patients with familial amyloidotic polyneuropathy", Am J Ophthalmol, 135, pp.188~193 (2003)
- Hara R, "Impact of liver transplantation on transthyretin-related ocular amyloidosis in Japanese patients", Arch Ophthalmol, 128, pp.206~210 (2010)
- Ando E, "Ocular manifestations of familial amyloidotic polyneuropathy type I: long-term follow up", Br J Ophthalmol, 81, pp.295~298 (1997)
- Nelson GA, "Ocular amyloidosis and secondary glaucoma", Ophthalmology, 106, pp.1363~1366 (1999)
- Falls HF, "Ocular manifestations of hereditary primary systemic amyloidosis", AMA Arch Ophthalmol, 54, pp.660~664 (1955)
- Futa R, "Familial amyloidotic polyneuropathy:ocular manifestations with clinicopathological observation", Jpn J Ophthalmol, 28, pp.289~298 (1984)
- Haltia M, "Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein", Biochem Biophys Res Commun, 167, pp.927~932 (1990)
- Nichols WC, "A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy", Genomics, 8, pp.318~323 (1990)
- Tawara S, "Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type)", Biochem Biophys Res Commun, 116, pp.880~888 (1983)
- Dwulet FE, "Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana", Swiss), 1986, pp.78, 880~886
- Reynolds MM, "Ocular manifestations of familial transthyretin amyloidosis", Am J Ophthalmol, 183, pp.156~162 (2017)
- Holmgren G, "Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis", Lancet, 341, pp.1113~1116 (1993)
- Cavallaro T, "The retinal pigment epithelium is the unique site of transthyretin synthesis in the rat eye", Invest Ophthalmol Vis Sci, 31, pp.497~501 (1990)
- Kawaji T, "Transthyretin synthesis in rabbit ciliary pigment epithelium", Exp Eye Res, 81, pp.306~312 (2005)
- Kimura A, "Secondary glaucoma in patients with familial amyloidotic polyneuropathy", Arch Ophthalmol, 121, pp.351~356 (2003)
- Silva-Araújo AC, "Aqueous outflow system in familial amyloidotic polyneuropathy, Portuguese type", Graefes Arch Clin Exp Ophthalmol, 231, pp.131~135 (1993)
- Schweitzer K, "Oculoleptomeningeal amyloidosis in 3 individuals with the transthyretin variant Tyr69His", Can J Ophthalmol, 44, pp.317~319 (2009)
- Doft BH, "Pars plana vitrectomy for vitreous amyloidosis", Ophthalmology, 94, pp.607~611 (1987)
- Irvine AR, "Recurrent amyloid involvement in the vitreous body after vitrectomy", Am J Ophthalmol, 82, pp.705~708 (1976)