Ординатура / Офтальмология / Английские материалы / Electrophysiology of Vision_Lam_2005
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44.Abraham FA. Sector retinitis pigmentosa. Electrophysiological and psychophysical study of the visual system. Doc Ophthalmol 1975; 39:13–28.
45.Andre´asson S, Ponjavic V, Abrahamson M, Ehinger B, Wu W, Fujita R, Buraczynska M, Swaroop A. Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene. Am J Ophthalmol 1997; 124:95–102.
46.Fishman GA, Grover S, Buraczynska M, Wu W, Swaroop A. A new 2-base pair deletion in the RPGR gene in ablack family with X-linked retinitis pigmentosa. Arch Ophthalmol 1998; 116:213–218.
47.Fishman GA, Weinberg AR, MacMahon TT. X-linked recessive retinitis pigmentosa: clinical characteristics of carriers. Arch Ophthalmol 1986; 104:1329–1335.
48.Weleber RG, Butler NS, Murphey WH, Sheffield VC, Stone EM. X-linked retinitis pigmentosa associated with a 2-based pair insertion in codon 99 of the RP3 gene RPGR. Arch Ophthalmol 1997; 115:1429–1435.
49.Grover S, Fishman GA, Anderson RJ, Lindeman M. A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa. Ophthalmology 2000; 107:386–396.
50.Jacobson SG, Roman AJ, Cideciyan AV, Robey MG, Iwata T, Inana G. X-linked retinitis pigmentosa: functional phenotype of an RP2 genotype. Invest Ophthalmol Vis Sci 1992; 33:3481–3492.
51.Arden GB, Carter RM, Hogg CR, Powell DJ, Ernst WJ, Clover GM, Lyness AL, Quinlan MP. A modified ERG technique and the results obtained in X-linked retinitis pigmentosa. Br J Ophthalmol 1983; 67:419–430.
52.Berson EL, Gouras P, Gunkel RD, Myrianthopoulos NC. Rod and cone responses in sex-linked retinitis pigmentosa. Arch Ophthalmol 1969; 81:215–225.
53.Peachey NS, Fishman GA, Derlacki DJ, Alexander KR. Rod and cone dysfunction in carriers of X-linked recessive retinitis pigmentosa. Ophthalmology 1988; 95:677–685.
Retinitis Pigmentosa and Pigmentary Retinopathies |
229 |
54.Andre´asson SOL, Ehinger B. Electroretinographic diagnosis in families with X-linked retinitis pigmentosa. Acta Ophthalmol 1990; 68:139–144.
55.Berson EL, Rosen JB, Simonoff EA. Electroretinographic testing as an aid in detection of carriers of X-choromosome- linked retinitis pigmentosa. Am J Ophthalmol 1979; 87: 460–468.
56.Vajaranant TS, Seiple W, Szlyk JP, Fishman GA. Detection using the multifocal electroretinogram of mosaic retinal dysfunction in carriers of X-linked retinitis pigmentosa. Ophthalmology 2002; 109:560–568.
57.Jacobson SG, Buraczynka M, Milam AH, Chen C, Jarvalainen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A. Disease expression in X-linked retinitis pigmentosa caused by putative null mutation in the RPGR gene. Invest Ophthalmol Vis Sci 1997; 38:1983–1997.
58.Cideciyan AV, Jacobson SG. Negative electroretinograms in retinitis pigmentosa. Invest Ophthalmol Vis Sci 1993; 34: 3253–3263.
59.Lam BL, M L, I HD. Low-frequency damped electroretinographic wavelets in young asymptomatic patients with dominant retinitis pigmentosa: a new electroretinographic finding. Ophthalmology 1999; 106:1109–1113.
60.Hood DC, Wladis EJ, Shady S, Holopigian K, Li J, Seiple W. Multifocal rod electroretinograms. Invest Ophthalmol Vis Sci 1998; 39:1152–1162.
61.Hood DC, Holopigian K, Greenstein V, Seiple W, Li J, Sutter EE, Carr RE. Assessment of local retinal function in patients with retinitis pigmentosa using the multi-focal ERG technique. Vis Res 1998; 38:163–179.
62.Seeliger M, Kretschmann U, Apfelstedt-Sylla E, Ruther K, Zrenner E. Multifocal electroretinography in retinitis pigmentosa. Am J Ophthalmol 1998; 125:214–226.
63.Jacobson SG, Knighton RW, Levene RM. Darkand lightadapted visual evoked cortical potentials in retinitis pigmentosa. Doc Ophthalmol 1985; 60:189–196.
230 |
Chapter 8 |
64.Jacobson JH, Hirose T, Suzuki T. Simultaneous ERG and VER in lesions of the optic pathway. Invest Ophthalmol 1968; 7:279–292.
65.Lennerstrand G. Delayed visual evoked cortical potentials in retinal disease. Acta Ophthalmol 1982; 60:497–504.
66.Nakamura Z, Ohzeki T. Electroretinograms and visual evoked potentials in the primary retinal dystrophies. Doc Ophthalmol Proc Ser 1982; 31:155–164.
67.Leber T. Ueber Retinitis pigmentosa und augeborene Amaurose. Albrecht von Graefes Arch Ophthalmol 1869; 15:1–25.
68.Nickel B, Hoyt CS. Leber’s congenital amaurosis: is mental retardation a frequent associated defect? Arch Ophthalmol 1982; 100:1089–1092.
69.Schroeder R, Mets MB, Maumenee IH. Leber’s congenital amaurosis: retrospective review of 43 cases and a new fundus finding in two cases. Arch Ophthalmol 1987; 105: 356–359.
70.Lotery AJ, Namperumalsamy P, Jacobson SG, Weleber RG, Fishman GA, Musarella MA, Hoyt CS, Heon E, Levin A, Jan J, Lam BL, Carr RE, Franklin A, Radha S, Andorf JL, Sheffield VC, Stone EM. Mutation analysis of 3 genes in patients affected with Leber’s congenital amaurosis. Arch Ophthalmol 2000; 118:538–543.
71.Perrault I, Rozer JM, Calvos P, Gerber S, Camuzat A, Dolfus H, Chatelin S, Souied E, Ghazi I, Leowski C, Bonnermaison M, Le Paslier D, Fre´zal J, Dufer J-L, Pittler S, Munnich A, Kalpan J. Retinal-specific guanylate cyclase gene mutations in Leber’s congenital amaurosis. Nat Genet 1996; 14: 461–464.
72.Marlhens F, Bareil C, Griffoin JM, Zrenner E, Amalric P, Eliaou C, Liu S-Y, Harris E, Redmond TM, Arnaud B, Claustres M, Hamel CP. Mutations in RPE65 cause Leber’s congenital amaurosis. Nat Genet 1997; 17:139–141.
73.Sohocki MM, Bowne SJ, Sullivan LS, Blackshaw S, Cepko CL, Payne AM, Bhattacharya SS, Khaliq S, Mehdi Q, Birch DG, Harrison WR, Elder FFB, Heckenlively JR, Daiger SP.
Retinitis Pigmentosa and Pigmentary Retinopathies |
231 |
Mutations in a new photoreceptor-pineal gene on 17q cause Leber congenital amaurosis. Nat Genet 2000; 24:79–83.
74.Swaroop A, Wang QL, Wu W, Cook J, Coats C, Xu S, Chen S, Zack DJ, Sieving PA. Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. Hum Mol Genet 1999; 8:299–305.
75.Good PA, Searle AET, Campbell S, Crewa SJ. Value of the ERG in congenital nystagmus. Br J Ophthalmol 1989; 73:512–515.
76.Lambert SR, Kriss A, Taylor D, Coffey R, Pembrey M. Followup and diagnostic reappraisal of 75 patients with Leber’s congenital amaurosis. Am J Ophthalmol 1989; 107:624–631.
77.Lorenz B, Gyurus P, Presiing M, Bremser D, Gu S, Andrassi M, Gerth C, Gal A. Early-onset severe rod–cone dystrophy in young children with RPE 65 mutations. Invest Ophthalmol Vis Sci 2000; 41:2735–2742.
78.Vaizy MJ, Sanders MD, Wybar KC, J W. Neurological abnormalities in congenital amaurosis of Leber. Review of 30 cases. Arch Dis Child 1977; 52:399–402.
79.Weiss AH, Biersdorf WR. Visual sensory disorders in congenital nystagmus. Ophthalmology 1989; 96:517–523.
80.Koenekoop RK, Fishman GA, Iannaccone A, Ezzeldin H, Ciccarelli ML, Baldi A, Suness JS, Lotery AJ, Jablonski MM, Pittler SJ, Manumenee I. Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations. Arch Ophthalmol 2002; 120:1325–1330.
81.Weleber RG, Tongue AC. Congenital stationary night blindness presenting as Leber’s congenital amaurosis. Arch Ophthalmol 1987; 105:360–365.
82.Brecelj J, Stirn-Kranic B. ERG and VEP follow-up study in children with Leber’s congenital amaurosis. Eye 1999; 13:47–54.
232 |
Chapter 8 |
83.Brigell M, Marchese AL. The luminance-amplitude function of simultaneously recorded flash visual evoked potential and electroretinogram. Clin Vis Sci 1993; 8:41–46.
84.Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, Moller CG, Pelias MJ, Tranebjaerg L. Clinical diagnosis of the Usher syndromes. Usher syndrome consortium. Am J Med Genet 1994; 50:32–38.
85.Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD, Kelley PM, Kimberling WJ, Wagenaar M, Levi-Acobas F, Larget-Piet D, Munninich A, Steel KP, Brown SDM, Pelit C. Defective myosin VIIA gene responsible for Usher syndrome 1B. Nature 1995; 374:60–61.
86.Weston MD, Eudy JD, Fujita S, Yao-S-F, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller CG, Smith RJ, Sumegi J, Kimberling WJ. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Am J Hum Genet 2000; 66:2020.
87.Van Aarem A, Wagenaar M, Pinckers AJ, Huygen PL, Blee- ker-Wagemakers EM, Kimberling BJ, Cremers CW. Ophthalmologic findings in Usher syndrome type 2A. Ophthalmic Genet 1995; 16:151–158.
88.Pazza L, Fishman GA, Farber M, Derlacki D, Anderson RJ. Visual acuity loss in patients with Usher’s syndrome. Arch Ophthalmol 1988; 104:1336–1339.
89.Tsilou ET, Rubin BI, Caruso RC, Reed GF, Pikus A, Hejimancik JF, Iwata F, Redman JB, Kaiser-Kupfer MI. Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types? Acta Ophthalmol Scand 2002; 80:196–201.
90.Fishman GA, Anderson RJ, Lam BL, Derlacki DJ. Prevalence of foveal lesions in type 1 and type 2 Usher’s syndrome. Arch Ophthalmol 1995; 113:770–773.
91.Bharadwaj AK, Kasztejna JP, Huq S, Berson EL, Dryja TP. Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. Exp Eye Res 2000; 71:173–181.
Retinitis Pigmentosa and Pigmentary Retinopathies |
233 |
92.Seeliger MW, Zrenner E, Apfelstedt-Sylla E, Jaissle GB. Identification of Usher syndrome subtypes by ERG implicit time. Invest Ophthalmol Vis Sci 2001; 42:3066–3071.
93.Mets MB, Young NM, Pass A, Lasky JB. Early diagnosis of Usher syndrome in children. Trans Am Ophthalmol Soc 2000; 98:237–242.
94.Boughman J, Vernon M, Shaver K. Usher’s syndrome: definition and estimate of prevalence from 2 high risk population. J Chronic Dis 1983; 36:595–603.
95.Pinckers A, van Aarem A, Brink H. The electrooculogram in heterozygote carriers of Usher syndrome, retinitis pigmentosa, neuronal ceroid lipofuscinosis, Senior syndrome and choroideremia. Ophthalmic Genet 1994; 15:25–30.
96.van Aarem A, Cremers CW, Pinckers AJ, Huygen PL, Hombergen GC, Kimberling BJ. The Usher syndrome type 2A: clinical findings in obligate carriers. Int J Pediatr Otorhinolaryngol 1995; 31:159–174.
97.Wagenaar M, ter Rahe B, van Aarem A, Huygen P, Admiraal R, Bleeker-Wagemakers E, Pinckers A, Kimberling W, Cremers C. Clinical findings in Obligate carriers of type I Usher syndrome. Am J Med Genet 1995; 59:375–379.
98.Bardet G. Sur un syndrome d’obesite infantile avec polydactlie et retinite pigmentaire (contribution a I’etude des formes cliniques de I’obesite hypophysaire). Vol. Ph.D. thesis, Paris, France, 1920.
99.Biedl A. Ein Geschwisterpaar mit adiposo-genitaler Dystrophie. Disch Med Woschenschr 1922; 48:1630.
100.Green JS, Parfrey PS, Harnett JD, Farid NR, Cremer BC, Johnson G, Heath O, McManamon PJ, O’Leary E, Pryse-Phil- lips W. The cardinal manifestations of Bardet-Biedl syndrome. a form of Laurence–Moon–Biedl syndrome. New Eng J Med 1989; 321:1002–1009.
101.Nishimura DY, Searby CC, Carmi R, Elbedour K, van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Halder NB, Kwitek-Black AE, Ying L, Duhi DM, Gorman SM, Heon E, Iannacconne A, Jacobson SG, Stone EM, Sheffield VC. Positional cloning of novel gene on
234 Chapter 8
chromosome 16q causing Bardet–Biedl syndrome (BBS2). Hum Mol Genet 2001; 10:865–874.
102.Katsanis N, Beales PL, Woods ML, Lewis RA, Green JS, Parfrey PS, Anslay SJ, Davidson WS, Lupuki JR. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet–Biedl syndrome. Nat genet 2000; 26:67–70.
103.Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Mussarella MA, Parfrey PS, Sheffleid VC, Biesecker LG. Mutations in MKKS cause Bardet–Biedl syndrome. Nat genet 2000; 26:15–16.
104.Fulton AB, Hansen RM, Glynn RJ. Natural course of visual functions in the Bardet–Biedl syndrome. Arch Ophthalmol 1993; 111:1500–1506.
105.Iannaccone A, De Propris G, Roncati S, Rispoli E, Del Porto G, Pannarale MR. The ocular phenotype of the Bardet–Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa. Ophthalmic Genet 1997; 18:13–26.
106.Spaggiari E, Salati R, Nicolini P, Borgatti R, Pozzoli U, Polenghi F. Evolution of ocular clinical and electrophysiological findings in pediatric Bardet–Biedl syndrome. Int Ophthalmol 1999; 23:61–67.
107.Jacobson SG, Borruat FX, Apa´thy PP. Patterns of rod and cone dysfunction in Bardet–Biedl syndrome. Am J Ophthalmol 1990; 109:676–688.
108.Iannaccone A, Vingolo EM, Rispoli E, De Propris G, Tanzilli P, Pannarale MR. Electroretinographic alterations in the Laurence–Moon–Bardet–Biedl phenotype. Acta Ophthalmol Scand 1996; 74:8–13.
109.Lavy T, Harris CM, Shawkat F, Thompson D, Taylor D, Kriss A. Electrophysiological and eye-movement abnormalities in children with the Bardet–Biedl syndrome. J Pediatr Ophthalmol Strabismus 1995; 32:364–367.
110.Cox GF, Hansen RM, Quinn N, Fulton AB. Retinal function in carriers of Bardet–Biedl syndrome. Arch Ophthalmol 2003; 121:804–810.
Retinitis Pigmentosa and Pigmentary Retinopathies |
235 |
111.Refsum S. [Heredopathia atactica polyneuritiformis, Hexadecanoic acid storage disease (Refsum’s disease) definition treatment and pathogenesis. A short review]. Psychiatr Neurol Med Psychol Beih 1977; 22-23:11–18.
112.Refsum S, Salomonsen L, Skatvedt M. Heredopathia atactica polyneuritiformis in children. J Pediatr 1949; 35: 335–343.
113.Wills AJ, Manning NJ, Reilly MM. Refsum’s disease. QJM 2001; 94:403–406.
114.Hansen E, Bachen NI, Flage T. Refsum’s disease. Eye manifestations in a patient treated with low phytol low phytanic acid diet. Acta Ophthalmol (Copenh) 1979; 57:899–913.
115.Rinaldi E, Cotticelli L, Di Meo A, Romano A. Ocular findings in Refsum’s disease. Metab Pediatr Ophthalmol 1981; 5: 149–154.
116.Weleber RG, Tongue AC, Kennaway NG, Budden SS, Buist NR. Ophthalmic manifestations of infantile phytanic acid storage disease. Arch Ophthalmol 1984; 102:1317–1721.
117.Yamamoto S, Onozu H, Yamada N, Hayasaka S, Watanabe A. Mild retinal changes in a 47-year-old patient with phytanic acid storage disease. Ophthalmologica 1995; 209:251–255.
118.Bassen FA, Kornzweig AL. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood 1950; 5: 381–387.
119.Salt HB, Wolff OH, Lloyd JK, Fosbrooke AS, Cameron AH, Hubble DV. On having no beta-lipoprotein: a syndrome comprising abetalipoproteineaemia, acanthocytosis, and steatorrhoea. Lancet 1960; 11:325–329.
120.Wetterau JR, Aggerbeck LP, Bouma M-E, Eisenberg C, Munck A, Hermier M, Schmitz J, Gay G, Rader DJ, Gregg RE. Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science 1992; 258: 999–1001.
121.Sharp D, Blinderman L, Combs KA, Kienzle B, Ricci B, Wager-Smith K, Gil CM, Turck CW, Bouma M-E, Rader DJ, Aggerneck LP, Gregg RE, Gordon DA, Wetterau JR.
236 |
Chapter 8 |
Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinemia. Nature 1993; 365:65–69.
122.Carr RE. Abetalipoproteinemia and the eye. Birth Defects Orig Artic Ser 1976; 12:385–408.
123.Bishara S, Merin S, Cooper M, Azizi E, Delpre G, Deckelbaum RJ. Combined vitamin A and E therapy prevents retinal electrophysiological deterioration in abe talipoproteinaemia. Br J Ophthalmol 1982; 66:767–770.
124.Brin MF, Pedley TA, Lovelace RE, et al. Electrophysiologic features of abetalipoproteinemia: functional consequences of vitamin E deficiency. Neurology 1986; 36:669–673.
125.Fagan ER, Taylor MJ. Longitudinal multimodal evoked potential studies in abetalipoproteinaemia. Can J Neurol Sci 1987; 14:617–621.
126.Gouras P, Carr RE, Gunkel RD. Retinitis pigmentosa in abetalipoproteinemia: effects of vitamin A. Invest Ophthalmol 1971; 10:784–793.
127.Judisch GF, Rhead WJ, Miller DK. Abetalipoproteinemia. Report of an unusual patient. Ophthalmologica 1984; 189:73–79.
128.Sperling MA, Hiles DA, Kennerdell JS. Electroretinographic responses following vitamin A therapy in abetalipoproteinemia. Am J Ophthalmol 1972; 73:342–351.
129.Chowers I, Banin E, Merin S, Cooper M, Granot E. Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients. Eye 2001; 15: 525–530.
130.Muller DP, Lloyd JK, Bird AC. Long-term management of abetalipoproteinemia: possible role for vitamin E. Arch Dis Child 1977; 52:209–214.
131.Runge P, Muller DP, McAllister J, Calver D, Lloyd JK, Taylor D. Oral vitamin E supplements can prevent the retinopathy of abetalipoproteinaemia. Br J Ophthalmol 1986; 70:166–173.
Retinitis Pigmentosa and Pigmentary Retinopathies |
237 |
132.Goebel HH. The neuronal ceroid-lipofuscinoses. J Child Neurol 1995; 10:424–437.
133.Mole SE. Batten’s disease: eight genes and still counting? Lancet 1999; 354:443–445.
134.Batten PE. Cerebral degeneration with symmetrical changes in the maculas in two members of a family. Trans Ophthalmol Soc UK 1903; 23:386–390.
135.Copenhaver RM, Goodman G. The electroretinogram in infantile, late infantile, and juvenile amaurotic family idocy. Arch Ophthalmol 1960; 63:559–566.
136.Weleber RG. The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinosis. Eye 1998; 12:580–590.
137.Eksandh LB, Ponjavic VB, Munroe PB, Eiberg HE, Uvebrant PE, Ehinger BE, Mole SE, Andreasson S. Full-field ERG in patients with Batten=Speilmeyer-Vogt disease caused by mutations in the CLN3 gene. Ophthalmic Genet 2000; 21:69–77.
138.Horiguchi M, Miyake Y. Batten disease-deteriorating course of ocular findings. Jpn J Ophthalmol 1992; 36:91–96.
139.Dawson WW, Armstrong D, Greer M, Maida TM, Samuelson DA. Disease-specific electrophysiological findings in adult ceroid-lipofuscinosis (Kufs disease). Doc Ophthalmol 1985; 60:163–171.
140.Gottlob I, Leipert KP, Kohlschutter A, Goebel HH. Electrophysiological findings of neuronal ceroid lipofuscinosis in heterozygotes. Graefes Arch Clin Exp Ophthalmol 1988; 226:516–521.
141.Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmoplegia, and complete heart block: unusual syndrome with histologic study in one of two cases. Arch Ophthalmol 1958; 60:280–289.
142.Mullie MA, Harding AE, Petty RK, Ikeda H, Morgan-Hughes JA, Sanders MD. The retinal manifestations of mitochondrial myopathy. A study of 22 cases. Arch Ophthalmol 1985; 103:1825–1830.