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1 대한안과학회지 2015 년제 56 권제 4 호 J Korean Ophthalmol Soc 2015;56(4): ISSN (Print) ISSN (Online) Original Article 일측성망막색소상피변성증례건의문헌고찰 Unilateral Retinitis Pigmentosa: A Case Series and Literature Review 유승훈 1 선해정 1 이성진 1 온영훈 2 Seung Hoon Yoo, MD 1, Hae Jung Sun, MD 1, Sung Jin Lee, MD, PhD 1, Young Hoon Ohn, MD, PhD 2 순천향대학교의과대학서울병원안과학교실 1, 순천향대학교의과대학부천병원안과학교실 2 Department of Ophthalmology, Soonchunhyang University Seoul Hospital, Soonchunhyang University College of Medicine 1, Seoul, Korea Department of Ophthalmology, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine 2, Bucheon, Korea Purpose: We report 4 cases of unilateral retinitis pigmentosa (URP) with a literature review. Methods: A retrospective, observational case series of 4 URP patients with no signs of bilateral involvement during the follow-up period of up to 5 years. Results: The subjects were 4 female patients with an average age of 37 years. The mean follow-up period was 7 years. The subjects blood analysis excluded any infective diseases. History of trauma or any family history of ocular diseases including retinitis pigmentosa was absent. The full-field electroretinograms (ERGs) were normal in the unaffected eyes and the affected eyes showed markedly low or undetectable responses. Computerized visual field examinations were normal in the unaffected eyes, while 3 of the affected eyes had total visual field loss and 1 had concentric narrowing within 20 degrees. Conclusions: A long term follow-up of at least 5 years is required for diagnosis of URP to exclude a delayed onset in the unaffected eye. ERG is a reliable test to monitor the course of the disease and to confirm the diagnosis when uncertain. The etiology of URP is unknown although several studies regarding genetic causes that resulted in URP have been reported in recent years. J Korean Ophthalmol Soc 2015;56(4): Key Words: Electroretinogram, Retinitis pigmentosa, Unilateral 망막색소상피변성 (retinitis pigmentosa) 은전형적으로양측으로발생하는진행성의막대및원뿔세포의변성을보이는유전질환으로알려졌다. 1,2 전세계적으로 5,000명중 1명꼴로발생하며 3 대부분의경우질환의초기부터야맹증과주변시야의감소를주로호소하나중심시력은잘보존되다가말기에시력이감퇴한다. 4 망막색소상피변성에서나 Received: Revised: Accepted: Address reprint requests to Sung Jin Lee, MD, PhD Department of Ophthalmology, Soonchunhyang University Seoul Hospital, #59 Daesagwan-ro, Yongsan-gu, Seoul , Korea Tel: , Fax: 타나는전형적인안저소견은망막세동맥의전반적인협착, 주변부망막의뼈조각 (bone spicule) 모양의색소침착과시신경유두의창백등이다. 1,2,5 이에반해일측성망막색소상피변성 (unilateral retinitis pigmentosa) 은전형적인망막색소상피변성의특징이한쪽눈에만나타나고반대쪽은정상일때를말한다. 6 이질환은 1865년 Pedraglia에의하여처음으로보고되었다. 7-9 이후간헐적으로몇몇증례만보고되던중 1952년 Francois and Verriest 6 가일측성망막색소상피변성의 4가지진단기준을제시하였고이는현재까지사용되고있다 단안망막색소상피변성은국외에서여러차례보고되었으며 6,10-17 현재까지국내에서는 1996년에 Kim et al 9 이하나의증례를보고한것이전부이다. 저자들은일측성망막색소상피변성 4예를통해서임상에 c2015 The Korean Ophthalmological Society This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. 559

2 - 대한안과학회지 2015 년제 56 권제 4 호 - 서경험하기힘든증례들을보고하고관련문헌고찰을통해일측성망막색소상피변성의최신지견을나누고자한다. 대상과방법 2005년 7월부터 2014년 8월까지본원안과를방문하여일측성망막색소상피변성으로진단받아최소 5.5년, 최대 8.5년의경과관찰한 4명의환자들의의무기록을후향적으로분석하였다. Francois and Verriest 6 는일측성망막색소상피변성으로진단기준으로다음의 4가지조건을모두만족시켜야한다고하였는데이는다음과같다. 1) 이환된눈은기능적변화와안저검사상전형적인망막색소상피변성의특징을보여야한다. 2) 반대쪽눈에망막색소상피변성의증상이없으며망막전위도가정상이어야한다. 3) 최소 5년이상의충분한경과관찰을통해지연성으로발생하는양측성망막색소상피변성을배제해야한다. 4) 이환된눈의감염성원인을배제해야한다. 4명의환자모두위의진단기준을충족시켰으며모든환자에서가족력과과거력을조사하였고감염성원인을배제하기위한일반혈액및혈청검사를시행하였으며최대교정시력및안압을측정하였고전안부및안저검사등기본적인안과검사를시행하였으며시야검사및망막전위도검사를시행하였다. 가족력은가족중안과적인문제가있 는지를확인하였으며감염성원인을배제하기위한혈액및혈청검사에는톡소플라즈마증, 매독, 풍진, 사상충증, 수두, 홍역등을포함시켰다. 안과검사와시야검사및망막전위도검사는정기적으로반복하여이환된눈의경과와반대쪽눈의발병여부를확인하였다. 시야검사는험프리자동시야계 (Humphrey field analyzer, Carl-Zeiss Meditec, Dublin, CA, USA) 를사용하였고전체시야망막전위도검사는 UTAS E-3000 (LKC technologies, Gaithersburg, MD, USA) system으로 Ganzfeld stimulator를이용하여시행하였고 International Society for Clinical Electrophysiology of Vision (ISCEV) 에서정한 5가지기본반응인막대세포반응 (Rod response), 최대복합반응 (Maximal combined response), 진동소파전위 (Oscillatory potentials), 단일섬광원뿔세포반응 (Single flash cone response) 과 30 Hz 점멸반응 (Flicker response) 을측정하였다. 18 결과 4명의환자모두여자였고초진당시평균연령은 37세였으며평균 7년간추적관찰하였다 (Table 1). 대상환자모두에서최초내원하였을때와최소 5년의경과관찰후모든안과검사와시야검사및망막전위도검사를시행하였다. 4명의환자모두에서이환된눈의망막전위도는무반응 Table 1. Demographic characteristics of the patients in unilateral RP Patient no. Sex/Age (years) Follow-up period (years) Affected eye BCVA at first visit BCVA at last visit 1 F/ OD AE FC/50 cm HM UE F/ OD AE HM NLP UE F/61 8 OD AE HM HM UE F/28 6 OD AE UE RP = retinitis pigmentosa; BCVA = best corrected visual acuity; AE = affected eye; UE = unaffected eye; FC = finger count; HM = hand motion; NLP = no light perception. Table 2. ERG values in unilateral RP at initial visit Patient no. Scotopic Mesopic Oscillatory potentials Photopic 30 Hz flicker 1 AE Undetectable Undetectable Undetectable Undetectable UE AE Undetectable Undetectable Undetectable Undetectable 6.1 UE AE Undetectable Undetectable Undetectable Undetectable UE AE Undetectable 38.9 Undetectable UE ERG = electroretinogram; RP = retinitis pigmentosa; AE = affected eye; UE = unaffected eye. 560

3 - 유승훈외 : 일측성망막색소상피변성 4 예 - (undetectable response) 에가까운반응을보였고반대쪽눈은정상이었는데 (Table 2) 이때무반응의정의는 5가지기본반응에서암순응반응세가지와단일섬광원뿔세포반응의소실과 30 Hz 점멸반응에서 10 μv 이하의잡음수준의반응을보여측정불가한경우로정의하였다. 18 증례 1 24세여자환자로점차심해지는우안의시력저하로내원하였다. 내원당시최대교정시력은우안이안전수지 50 cm 로교정되지않았고좌안은 1.0이었으며안압은정상이었다. 병력청취상가족중안과적인문제가있는사람은없었고외상의과거력은없었으며장기간의병원입원이나수술등전신적인문제도없었고혈액및혈청검사에서감 염의증거는없었다. 우안의시력저하는 10대부터시작되었다고하며 8년전과 5년전에우안의외사시로총두번의수술을받았다고하였다. 전안부검사에서우안의백내장이관찰되었고교대가림검사에서 30 프리즘디옵터의우안의외사시를보였다. 안저검사에서우안은망막세동맥의전반적인협착과후극부의중심일부만제외한광범위한지역의뼈조각모양의색소침착및맹락망막변성과시신경유두의창백을보였고좌안은정상이었다 (Fig. 1). 험프리시야검사에서우안은전체시야가사라진반면좌안은정상이었다. 전체시야망막전위도에서우안은표준 5개반응모두기록되지않을정도로심하게감소되거나반응이없었고좌안은정상이었다 (Fig. 2). 눈전위도에서좌안 (2.18) 에비해우안 (1.69) 의 Arden비가감소되었다. 경과관찰중백내장및사시수술을원하여시력호전가능성이매우낮음을설명한뒤우안의초음파수정체유화흡인술및후방인공수정체삽입술을시행하였고술후우안의최대교정시력은수술전과동일한안전수지 50 cm로교정되지않았으며조금밝게보인다는일부주관적인증상의호전을보였다. 백내장수술 2달후시행한교대가림검사에서 35 프리즘디옵터의우안의외사시를보여외직근유착박리술을시행하였으며술후정위에가까운경미한우안외사시소견보였다. 이후 8.5년동안경과관찰중이며최종내원시최대교정시력은우안이안전수동으로교정불가였고좌안은 1.0이었으며안저검사상우안의후극부의중심을제외한영역의광범위한색소침착및맥락망막변성이황반부까지침범하였으나좌안은정상이었다. 전체시야망막전위도에서우안은표준 5가지반응모두변함없이기록되지않을정도로심하게감소되거나반응이없었고좌안은정상이었다. 이와같은소견으로우안의일측성망막색소상피변성을진단하였다. Figure 1. Color fundus photographs of each patient showing typical retinitis pigmentosa abnormalities, including attenuated retinal arterioles, intraretinal clumps of black pigment, and loss of retinal pigment epithelium in the affected eye of each patient while the unaffected eyes are normal (the unaffected eye of patient 2 shows myopic fundus changes including localized chorioretinal atrophy and peripapillary atrophy). 증례 2 36세여자환자로수년전부터시작된양안의시력저하를주소로내원하였다. 내원당시최대교정시력은우안이안전수동으로교정되지않았고좌안은 0.04이었으며안압은정상이었다. 병력청취상가족중안과적인문제가있는사람은없었고외상의과거력도없었으며, 담석으로인해복강경담낭절제술을받은것외에는특별한전신적인문제는없었고혈액및혈청검사에서감염의증거는없었다. 전안부검사상우안에서아탈구된수정체와양안의백내장이관찰되었고안저검사는매체혼탁으로관찰이어려워안구초음파검사를시행하였는데유리체혼탁소견외특이소견은보이지않았다. 안구직경을측정한결과우안은 mm, 좌안은 mm로측정되었다. 먼저좌안 561

4 - 대한안과학회지 2015 년제 56 권제 4 호 - Figure 2. Full-field electroretinograms of each patient showing all 5 standard responses (rod response, maximal combined response, oscillatory potentials, cone response, 30-Hz flicker response). The responses are nearly non-recorded in the affected eyes while the unaffected eyes show nearly normal ERG responses. ERG = electroretinogram. 562

5 - 유승훈외 : 일측성망막색소상피변성 4 예 - 의초음파수정체유화흡인술및후방인공수정체삽입술을시행하였으며술후좌안의안저검사상고도근시로인한국소적인맹락망막변성과유두주위맹락망막위축소견을확인하였다 (Fig. 1). 4개월이후우안의아탈구된백내장및유리체혼탁으로유리체절제술, 평면부수정체절제술을시행하였으며수술중확인한안저는망막세동맥의전반적인협착과후극부를포함한광범위한지역의뼈조각모양의색소침착및맹락망막변성과시신경유두의창백을보였다 (Fig. 1). 전체시야망막전위도에서우안은표준 5개반응모두기록되지않을정도로심하게감소되거나반응이없었고좌안은정상이었다 (Fig. 2). 이후 5.5년동안경과관찰중이며최종내원시최대교정시력은우안이광각무로교정불가였고좌안은 0.5이었고우안안저의광범위한색소침착및맹락망막변성은큰변화가없었고좌안도고도근시로인한국소적인맹막망막변성과유두주위맹락망막위축의큰변화는없었다. 전체시야망막전위도에서우안은표준 5가지반응모두변함없이기록되지않을정도로심하게감소되거나반응이없었고좌안은정상이었다. 이와같은소견으로우안의일측성망막색소상피변성을진단하였다. 증례 3 61세여자환자로우안의시력저하를주소로내원하였다. 과거력상약 20년전에우안망막에이상이있다는말을들었으나추가적인검사및치료는하지않았었고 10년전우안익상편절제술을받았다고하였다. 내원당시최대교정시력은우안이안전수동으로교정되지않았고좌안은 1.0이었으며안압은정상이었다. 병력청취상가족중안과적인문제가있는사람은없었고외상의과거력은없었으며고혈압외에는특별한전신적인문제는없었고혈액및혈청검사에서감염의증거는없었다. 전안부검사에서우안의백내장이관찰되었고안저검사에서우안은망막세동맥의전반적인협착이관찰되었고시신경유두상이측으로쐐기모양의정상망막을제외한광범위한지역의뼈조각모양의색소침착및맹락망막변성과시신경유두의창백이보였고좌안은정상이었다 (Fig. 1). 험프리시야검사상우안은전체시야결손을보였으나좌안은정상이었다. 전체시야망막전위도에서우안은표준 5개반응모두기록되지않을정도로심하게감소되거나반응이없었고좌안은정상이었다 (Fig. 2). 이후 8년동안경과관찰중이며최종내원시최대교정시력은우안이안전수동으로교정불가였고좌안은 1.0이었으며우안안저에서쐐기모양의정상망막의면적이조금줄어든양상을보였으며정상망막을제외한광범위한지역의뼈조각모양의색소침착및 맹락망막변성과시신경유두의창백은큰변화가없었고좌안은정상이었다. 전체시야망막전위도에서우안은표준 5가지반응모두변함없이기록되지않을정도로심하게감소되거나반응이없었고좌안은정상이었다. 이와같은소견으로우안의일측성망막색소상피변성을진단하였다. 증례 4 28세여자환자로 1년전부터시작된우안의광시증을주소로내원하였다. 과거력상 7년전부터발생한우안의비문증외에는특이사항은없었다. 내원당시최대교정시력은우안이 0.9이었고좌안은 1.0이었으며안압은정상이었다. 병력청취상가족중안과적인문제가있는사람은없었고외상의과거력은없었으며장기간의병원입원이나수술등전신적인문제도없었고혈액및혈청검사에서감염의증거는없었다. 전안부검사에서특이사항은없었고안저검사에서우안은망막세동맥의전반적인협착과후극부를제외한광범위한지역의뼈조각모양의색소침착을보였고좌안은정상이었다 (Fig. 1). 험프리시야검사상우안은중심 20도이내의시야협착을보였고좌안은정상이었다 (Fig. 3). 전체시야망막전위도에서우안은표준 5개 A B Figure 3. Visual field change of affected eye in case 4. Concentric narrowing of visual field within 20 degrees was noticed at first visit (A). Six years later, the visual field was more narrowed about 5 degrees (B). Visual field using the Humphrey visual field analyzer (Carl-Zeiss Meditec, Dublin, CA, USA; C30-2 program). 563

6 - 대한안과학회지 2015 년제 56 권제 4 호 - 반응모두기록되지않을정도로심하게감소되거나반응이없었고좌안은정상이었다 (Fig. 2). 이후 6년동안경과관찰중이며최종내원시최대교정시력은우안이 0.8, 좌안이 1.0이었고안저검사상우안의망막세동맥의전반적인협착과후극부를제외한광범위한지역의뼈조각모양의색소침착은큰차이없었고좌안은정상이었다. 험프리시야검사상우안의시야협착은약 5도정도증가하였으나좌안은정상이었고 (Fig. 3), 전체시야망막전위도는우안은표준 5가지반응모두변함없이기록되지않을정도로심하게감소되거나반응이없었고좌안은정상이었다. 이와같은소견으로우안의일측성망막색소상피변성을진단하였다. 고찰 망막색소상피변성은임상적으로유사한표현형 (phenotype) 을보이는다양한유전자변이를묶어놓은하나의질환군이다. 유병률은전세계적으로 5,000명당 1명꼴이며세부적으로미국은 5,200명당 1명, 스위스는 7,000명당 1명, 중국은 4,016명당 1명, 이스라엘은 4,500명당 1명, 나바호인디언 (Navajo indians) 은 1,878명당 1명이라는연구가있다. 18 일반적으로초기에야맹증을호소하고이후중간주변부의시야협착을느끼다점차중심쪽으로시야가줄어들면서터널시야 (tunnel vision) 을보이는경과를밟는다. 세포학적인측면에서초기에는주로막대세포의변성으로시작되지만병이진행하면원뿔세포의변성이발생하고점차실명에이르게된다. 1,2 유전형태는대부분의경우상염색체열성유전이며그외상염색체우성유전, 그리고 X염색체관련유전형태를보이는데현재까지망막색소상피변성과관련된유전자는 40여가지이상이알려져있다. 가장특징적인안저소견은주변부망막색소상피의탈색소및위축, 뼈조각모양의색소침착, 망막세동맥의가늘어짐, 왁스모양의시신경유두창백등이다. 1,2,5 그밖에동반될수있는소견으로백내장, 원추각막, 근시, 난시, 개방각녹내장등이있다. 18 진단을위한검사로는망막전위도및눈전위도, 형광안저혈관조영술, 시야검사, 대비감도, 내과적병력조사및임상병리검사, 가족력조사등이있으며진단은망막색소상피변성의전형적인안저소견과대부분의경우에서초기부터측정불가로나타나는망막전위도, 그리고시야검사에서시야의협착을보일때진단할수있다. 특히망막전위도및눈전위도는증상이나증후가모호한경우진단에도움이된다. 10,16 감별진단으로는풍진, 매독, 톡소플라즈마, 헤르페스등의감염으로인한염증성망막질환, 악성종양과관련된부종양망막병증, chlorpromazine, chloroquine 등에의한약물독성, 외상성망막병증, Pigmented Paravenous Retinochoroidal Atrophy (PPRCA), Diffuse unilateral subacute neuroretinitis (DUSN), 원뿔-막대및원뿔세포이상증등이있다. 18 일측성망막색소상피변성은 1865년 Pedraglia 7 에의하여처음으로보고되었고이후간헐적으로몇몇증례가보고되던중 1952년 Francois and Verriest 6 는일측성망막색소상피변성의 4가지진단기준을제시하였고이는현재까지사용되고있으며외국에서는여러차례보고되었으나국내에서는 1996년 Kim et al 9 이하나의증례를보고한것이전부이다. 발병원인으로과거대부분의문헌에서일측성의발병형태, 양측성에비해더늦은발병나이, 가족력이없는점등을이유로일측성망막색소상피변성은유전과관련되어있지않을것이라고발표하였다. 10,11,19,20 그외에 1968년 Svĕrák et al 21 은일측성망막색소상피변성환자에서망막순환장애를확인하였고 1968년 Kandori et al 22 은일측성망막색소상피변성이안동맥분지의만성허헐에의해이차적으로유발된다고보고하였다. 최근연구에서이와는다르게유전적인원인으로발병할수있다는주장과함께관련유전자가규명되고있는데먼저 2009년 Farrell 23 은 272명의망막색소상피변성환자중총 14명 (5%) 의일측성망막색소상피변성을찾아내이를대상으로가족력을조사한결과이중 5명이가족력이있었는데 4명은상염색체우성, 1명은상염색체열성유전의형태를보였으나유전검사결과원인유전자는규명하지못하였다. 그리고 2011년 Mukhopadhyay et al 24 은처음으로일측성망막색소상피변성과동반되는생식계열돌연변이를확인하였는데이는상염색체우성으로유전되는망막색소상피변성의가장흔한원인유전자중하나로 RP1 유전자의이형접합성넌센스돌연변이 (heterozygous nonsense mutation) p.r677x이었다. 2012년 Marsiglia et al 16 은 5명의일측성망막색소상피변성환자를대상으로유전자검사를시행해 1명에서 USH2AW4149R 돌연변이를확인하였고이또한양측성망막색소상피변성의흔한원인돌연변이중하나였다. 따라서일측성망막색소상피변성이의심된다면양측성망막색소상피변성에서와마찬가지로유전자검사를시행하는것이진단및치료에도움이될수있겠다. Francois and Verriest 6 는최소 5년이상의경과관찰을통해지연성으로발생하는양측성망막색소상피변성을배제해야한다는진단기준을제시하였고이는그후많은문헌에서인용되고있다. 이와관련하여 2012년 Kato et al 15 은 8년의경과관찰을통해일측성망막색소상피변성으로진단받은환자에서 2년뒤반대쪽눈을침범한지연성으로발 564

7 - 유승훈외 : 일측성망막색소상피변성 4 예 - 생한양측성망막색소상피변성을보고하였고 2014년 Weller et al 17 은 30년의경과관찰을하여반대쪽눈을침범하지않았던일측성망막색소상피변성 1예를보고하였다. 이렇듯진단에는최소 5년이상의경과관찰이필요하나가능하다면지속적으로반대쪽눈의침범여부를확인하는것이좋겠다. 망막전위도의진폭이남아있는망막의기능을뜻하고이는망막색소상피변성의자연경과에대한연구에서중요하게여겨지는데 1985년 Berson et al 25 은망막색소상피변성에서잔여망막전위도의진폭의연간감소율을 % 라고하였으며, 2011년 Potsidis et al 13 은 15명의일측성망막색소상피변성환자를대상으로골드만시야검사와전체시야망막전위도를시행하여정상눈과반대쪽이환된눈의시간에따른시기능의감소율을비교하였고정상눈과비교하였을때이환된눈의 Visual field area (VFA), 단일섬광원뿔세포반응및 30 Hz 점멸반응진폭의감소율이유의하게더컸으며특히단일섬광원뿔세포반응의반응도달시간 (Implicit time) 이 40 millisecond 이상인경우그렇지않은경우보다 VFA, 단일섬광원뿔세포반응및 30 Hz 점멸반응의진폭의감소율이더유의하게컸고초진시 35세이상이었던경우더빠른시력의감소를보였다고보고하였다. 이처럼망막전위도는질병의자연경과를판단하는데도움을줄수있겠다. 일측성망막색소상피변성은임상에서흔히접하기어려운질환으로원인은명확하게밝혀지지않았지만최근유전인자에대한연구가진행되고있는상황이다. 임상에서환자를직접접한다면반대쪽눈의발병가능성이적고반대쪽눈의시기능은정상눈과차이가없음을설명해안심시키고그외가족력조사및유전상담등을통해다른가족의이환여부및발병가능성을확인하는것이필요하며 5년이상의충분한경과관찰이필요함을설명해야할것이다. REFERENCES 1) Carr RE, Noble KG. Retinitis pigmentosa. Ophthalmology 1981; 88: ) Grover S, Fishman GA, Anderson RJ, et al. Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or older. Ophthalmology 1999;106: ) Bunker CH, Berson EL, Bromley WC, et al. Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol 1984;97: ) Frank MH, Sayegh MH. Immunomodulatory functions of mesenchymal stem cells. Lancet 2004;363: ) Noble KG, Carr RE. Peripapillary pigmentary retinal degeneration. Am J Ophthalmol 1978;86: ) Francois J, Verriest G. Retinitis pigmentosa unilateral. Ophthalmologica 1952;124: ) Pedraglia C. Retinitis pigmentosa. Klin Monbl Augenheilkd 1865; 3: ) Brill TF. Marcus Gunn pupil in a possible case of unilateral retinitis pigmentosa. Am J Optom Physiol Opt 1979;56: ) Kim KH, Park YH, Hahn DK. A case of unilateral retinitis pigmentosa. J Korean Ophthalmol Soc 1996;37: ) Spadea L, Magni R, Rinaldi G, et al. Unilateral retinitis pigmentosa: clinical and electrophysiological report of four cases. Ophthalmologica 1998;212: ) Chen H, Wu D, Huang S, Jiang F. Unilateral retinitis pigmentosa with amblyopia in the fellow eye. Graefes Arch Clin Exp Ophthalmol 2006;244: ) Thakur A, Puri L. Unilateral retinitis pigmentosa. Clin Exp Optom 2010;93: ) Potsidis E, Berson EL, Sandberg MA. Disease course of patients with unilateral pigmentary retinopathy. Invest Ophthalmol Vis Sci 2011;52: ) Dreisler KK. Unilateral retinitis pigmentosa; two cases. Acta Ophthalmol (Copenh) 1948;26: ) Kato K, Miyake Y, Matsubara H, Uji Y. Long-term follow-up of a case of unilateral retinitis pigmentosa. Nihon Ganka Gakkai Zasshi 2012;116: ) Marsiglia M, Duncker T, Peiretti E, et al. Unilateral retinitis pigmentosa: a proposal of genetic pathogenic mechanisms. Eur J Ophthalmol 2012;22: ) Weller JM, Michelson G, Juenemann AG. Unilateral retinitis pigmentosa: 30 years follow-up. BMJ Case Rep 2014; ) Ryan SJ. Retina, 5th ed. Vol. 2. Philadelphia: Saunders, 2013; ) Weiss JF, Nicholl RJ. Nonsyphilitic unilateral retinitis pigmentosa. Am J Ophthalmol 1968;65: ) Carr RE, Siegel IM. Unilateral retinitis pigmentosa. Arch Ophthalmol 1973;90: ) Svĕrák J, Peregrin J, Velický J. Unilateral pigmentary degeneration. A further case controlled by EOG and ERG. Acta Ophthalmol (Copenh) 1968;46: ) Kandori F, Tamai A, Watanabe T, Kurimoto S. Unilateral pigmentary degeneration of the retina. Report of two cases. Am J Ophthalmol 1968;66: ) Farrell DF. Unilateral retinitis pigmentosa and cone-rod dystrophy. Clin Ophthalmol 2009;3: ) Mukhopadhyay R, Holder GE, Moore AT, Webster AR. Unilateral retinitis pigmentosa occurring in an individual with a germline mutation in the RP1 gene. Arch Ophthalmol 2011;129: ) Berson EL, Sandberg MA, Rosner B, et al. Natural course of retinitis pigmentosa over a three-year interval. Am J Ophthalmol 1985;99:

8 - 대한안과학회지 2015 년제 56 권제 4 호 - = 국문초록 = 일측성망막색소상피변성증례건의문헌고찰 목적 : 일측성망막색소상피변성환자 4 예를경험하였기에문헌고찰과함께보고하고자한다. 대상과방법 : 5 년이상의경과관찰을통해반대쪽눈이이환되지않음을확인한일측성망막색소상피변성환자 4 명의의무기록을후향적으로분석하였다. 결과 : 4 명의환자모두여자였고초진당시평균연령은 37 세였으며평균 7 년의추적관찰을하였다. 일반혈액검사및혈청검사상감염의증거는없었고망막색소상피변성을포함한다른안과적질환을진단받거나치료를받은가족력도없었으며외상의과거력또한없었다. 전체시야망막전위도에서이환된 4 안모두 5 개표준반응이측정되지않을정도로감소하거나반응이없었으나반대쪽은정상이었다. 험프리자동시야검사에서반대쪽눈은모두정상이었으나이환된눈중 3 안은전체시야소실을보였고 1 안은 20 도이내의시야협착을보였다. 결론 : 일측성망막색소상피변성의진단에는최소 5 년이상의경과관찰이필요하고진단이불확실한경우에는망막전위도가진단에도움이될수있다. 일측성망막색소상피변성의원인은명확하게밝혀진것은없지만최근에는유전인자에대한연구가진행되고있다. < 대한안과학회지 2015;56(4): > 566

<283732372D3733312920B4D9C3CAC1A120BCD2C7C1C6AEC4DCC5C3C6AEB7BBC1EEC0C720B3EBBEC8C0C720BDC3B7C2BAB8C1A4BFA120B4EBC7D120C0AFBFEBBCBA20C6F2B0A1283035292E687770>

<283732372D3733312920B4D9C3CAC1A120BCD2C7C1C6AEC4DCC5C3C6AEB7BBC1EEC0C720B3EBBEC8C0C720BDC3B7C2BAB8C1A4BFA120B4EBC7D120C0AFBFEBBCBA20C6F2B0A1283035292E687770> 대한안과학회지 제 49 권 제 5 호 2008 J Korean Ophthalmol Soc 49(5):727-731, 2008 DOI : 10.3341/jkos.2008.49.5.727 다초점 소프트콘택트렌즈의 노안의 시력보정에 대한 유용성 평가 김현경 1 김효명 2 정성근 1 가톨릭대학교 의과대학 성모병원 안과학교실 1, 고려대학교 의과대학 안암병원 안과학교실

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