Diagnosis and complementary examinations

Developments in Ophthalmology

Volumn 53, Issue , 2014, Pages 53-69

  Menghini, Moreno ^a   Duncan, Jacque L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HUMAN; REPRODUCIBILITY; RETINAL DISEASES; VISUAL SYSTEM EXAMINATION;

DIAGNOSTIC TECHNIQUES, OPHTHALMOLOGICAL; HUMANS; REPRODUCIBILITY OF RESULTS; RETINAL DISEASES;

EID: 84922270898     PISSN: 02503751     EISSN: 16622790     Source Type: Book Series    
DOI: 10.1159/000357324     Document Type: Article

References (95)

1. Berson EL, Sandberg MA, Rosner B, Birch DG, Hanson AH: Natural course of retinitis pigmentosa over a three-year interval. Am J Ophthalmol 1985; 99: 240-251.
2. Gonin J: Le scotome annulaire dans la dégénérescence pigmentaire de la rétine. Ann Ocul 1901; 125: 101-130.
3. Grover S, Fishman GA, Brown J Jr: Patterns of visual field progression in patients with retinitis pigmentosa. Ophthalmology 1998; 105: 1069-1075.
4. Sandberg MA, Rosner B, Weigel-DiFranco C, Dryja TP, Berson EL: Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. Invest Ophthalmol Vis Sci 2007; 48: 1298-1304.
5. Schwartz SB, Aleman TS, Cideciyan AV, Windsor EA, Sumaroka A, Roman AJ, Rane T, Smilko EE, Bennett J, Stone EM, Kimberling WJ, Liu XZ, Jacobson SG: Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. Invest Ophthalmol Vis Sci 2005; 46: 734-743.
6. Fischer MD, Fleischhauer JC, Gillies MC, Sutter FK, Helbig H, Barthelmes D: A new method to monitor visual field defects caused by photoreceptor degeneration by quantitative optical coherence tomography. Invest Ophthalmol Vis Sci 2008; 49: 3617-3621.
7. Anderson C, Blaha GR, Marx JL: Humphrey visual field findings in hydroxychloroquine toxicity. Eye (Lond) 2011; 25: 1535-1545.
8. Hood DC, Ramachandran R, Holopigian K, Lazow M, Birch DG, Greenstein VC: Method for deriving visual field boundaries from OCT scans of patients with retinitis pigmentosa. Biomed Opt Express 2011; 2: 1106-1114.
9. Rangaswamy NV, Patel HM, Locke KG, Hood DC, Birch DG: A comparison of visual field sensitivity to photoreceptor thickness in retinitis pigmentosa. Invest Ophthalmol Vis Sci 2010; 51: 4213-4219.
10. Gerth C, Wright T, Heon E, Westall CA: Assessment of central retinal function in patients with advanced retinitis pigmentosa. Invest Ophthalmol Vis Sci 2007; 48: 1312-1318.
11. Lodha N, Westall CA, Brent M, Abdolell M, Heon E: A modified protocol for the assessment of visual function in patients with retinitis pigmentosa. Adv Exp Med Biol 2003; 533: 49-57.
12. Rohrschneider K, Bultmann S, Springer C: Use of fundus perimetry (microperimetry) to quantify macular sensitivity. Prog Retin Eye Res 2008; 27: 536-548.
13. Rohrschneider K, Springer C, Bultmann S, Volcker HE: Microperimetry-comparison between the micro perimeter 1 and scanning laser ophthalmoscope-fundus perimetry. Am J Ophthalmol 2005; 139: 125-134.
14. Fishman GA, Birch DG, Holder GE, Brigell MG: Electrophysiologic testing in disorders of the retina, optic nerve and visual pathway. Ophthalmol Monographs, ed 2. Oxford, Oxford University Press, 2001.
15. Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M: ISCEV Standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol 2009; 118: 69-77.
16. Frishman LJ: Electrogenesis of the electroretinogram; in Sadda SR (ed): Retinal Imaging and Diagnostics. Retina, ed 5. Amsterdam, Elsevier, 2013, pp 177-201.
17. Peachey NS, Ball SL: Electrophysiological analysis of visual function in mutant mice. Doc Ophthalmol 2003; 107: 13-36.
18. Miyake Y, Shinoda K: Clinical electrophysiology; in Sadda SR (ed): Retinal Imaging and Diagnostics. Retina, ed 5. Amsterdam, Elsevier, 2013, pp 202-226.
19. Wu DM, Fawzi AA: Abnormalities of cone and rod function; in Schachat AP, Sadda SR (eds): Medical Retina. Retina, ed 5, Amsterdam, Elsevier, 2013, pp 899-906.
20. Krill AE, Deutman AF, Fishman M: The cone degenerations. Doc Ophthalmol 1973; 35: 1-80.
21. Ladewig M, Kraus H, Foerster MH, Kellner U: Cone dysfunction in patients with late-onset cone dystrophy and age-related macular degeneration. Arch Ophthalmol 2003; 121: 1557-1561.
22. Renner AB, Kellner U, Cropp E, Foerster MH: Dysfunction of transmission in the inner retina: incidence and clinical causes of negative electroretinogram. Graefes Arch Clin Exp Ophthalmol 2006; 244: 1467-1473.
23. Sikkink SK, Biswas S, Parry NR, Stanga PE, Trump D: X-linked retinoschisis: an update. J Med Genet 2007; 44: 225-232.
24. Kellner U, Brummer S, Foerster MH, Wessing A: X-linked congenital retinoschisis. Graefes Arch Clin Exp Ophthalmol 1990; 228: 432-437.
25. Audo I, Robson AG, Holder GE, Moore AT: The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction. Surv Ophthalmol 2008; 53: 16-40.
26. Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, Lorenz B, Jurklies B, Weber BH: Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet 1997; 17: 164-170.
27. Weber BH, Schrewe H, Molday LL, Gehrig A, White KL, Seeliger MW, Jaissle GB, Friedburg C, Tamm E, Molday RS: Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure. Proc Natl Acad Sci USA 2002; 99: 6222-6227.
28. Miyake Y, Shiroyama N, Ota I, Horiguchi M: Focal macular electroretinogram in X-linked congenital retinoschisis. Invest Ophthalmol Vis Sci 1993; 34: 512-515.
29. Vincent A, Robson AG, Neveu MM, Wright GA, Moore AT, Webster AR, Holder GE: A phenotype-genotype correlation study of X-linked retinoschisis. Ophthalmology 2013; 120: 1454-1464.
30. Miyake Y, Yagasaki K, Horiguchi M, Kawase Y, Kanda T: Congenital stationary night blindness with negative electroretinogram. A new classification. Arch Ophthalmol 1986; 104: 1013-1020.
31. Sieving PA: Photopic ON-and OFFpathway abnormalities in retinal dystrophies. Trans Am Ophthalmol Soc 1993; 91: 701-773.
32. Carr RE, Gouras P: Oguchi's Disease. Arch Ophthalmol 1965; 73: 646-656.
33. Niwa Y, Kondo M, Ueno S, Nakamura M, Terasaki H, Miyake Y: Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study. Invest Ophthalmol Vis Sci 2005; 46: 1480-1485.
34. Alexander KR, Fishman GA, Peachey NS, Marchese AL, Tso MO: 'On' response defect in paraneoplastic night blindness with cutaneous malignant melanoma. Invest Ophthalmol Vis Sci 1992; 33: 477-483.
35. Lu Y, Jia L, He S, Hurley MC, Leys MJ, Jayasundera T, Heckenlively JR: Melanoma-associated retinopathy: A paraneoplastic autoimmune complication. Arch Ophthalmol 2009; 127: 1572-1580.
36. Heckenlively JR, Ferreyra HA: Autoimmune retinopathy: A review and summary. Semin Immunopathol 2008; 30: 127-134.
37. Jacobson SG, Morales DS, Sun XK, Feuer WJ, Cideciyan AV, Gass JD, Milam AH: Pattern of retinal dysfunction in acute zonal occult outer retinopathy. Ophthalmology 1995; 102: 1187-1198.
38. Hood DC, Bach M, Brigell M, Keating D, Kondo M, Lyons JS, Marmor MF, Mc-Culloch DL, Palmowski-Wolfe AM: ISCEV standard for clinical multifocal electroretinography (mfERG) (2011 edition). Doc Ophthalmol 2012; 124: 1-13.
39. Hood DC, Frishman LJ, Saszik S, Viswanathan S: Retinal origins of the primate multifocal ERG: implications for the human response. Invest Ophthalmol Vis Sci 2002; 43: 1673-1685.
40. Hood DC: Assessing retinal function with the multifocal technique. Prog Retin Eye Res 2000; 19: 607-646.
41. Piao CH, Kondo M, Tanikawa A, Terasaki H, Miyake Y: Multifocal electroretinogram in occult macular dystrophy. Invest Ophthalmol Vis Sci 2000; 41: 513-517.
42. Mirza RG, Jampol LM: White spot syndromes and related diseases; in Schachat AP, Sadda SR (eds): Medical Retina. Retina, ed 5. Amsterdam, Elsevier, 2013, pp 1337-1380.
43. Marmor MF, Kellner U, Lai TY, Lyons JS, Mieler WF: Revised recommendations on screening for chloroquine and hydroxychloroquine retinopathy. Ophthalmology 2011; 118: 415-422.
44. Sohn EH, Mullins RF, Stone EM: Macular dystrophies; in Schachat AP, Sadda SR (eds): Medical Retina. Retina, ed 5. Amsterdam, Elsevier, 2013, pp 852-890.
45. Meunier I, Senechal A, Dhaenens CM, Arndt C, Puech B, Defoort-Dhellemmes S, Manes G, Chazalette D, Mazoir E, Bocquet B, Hamel CP: Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: A rationale for molecular analysis. Ophthalmology 2011; 118: 1130-1136.
46. Johnson RN, Fu AD, McDonald HR, Jumper JM, Ai E, Cunningham ET Jr, Lujan BJ: Fluorescein angiography: basic principles and interpretation; in Sadda SR (ed): Retinal Imaging and Diagnostics. Retina, ed 5. Amsterdam, Elsevier, 2013, pp 2-50.
47. Fishman GA, Stone EM, Grover S, Derlacki DJ, Haines HL, Hockey RR: Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. Arch Ophthalmol 1999; 117: 504-510.
48. Staurenghi G, Bottoni F, Giani A: Clinical applications of diagnostic indocyanine green angiography; in Sadda SR (ed): Retinal Imaging and Diagnostics. Retina, ed 5. Amsterdam, Elsevier, 2013, pp 51-81.
49. Dell'omo R, Wong R, Marino M, Konstantopoulou K, Pavesio C: Relationship between different fluorescein and indocyanine green angiography features in multiple evanescent white dot syndrome. Br J Ophthalmol 2010; 94: 59-63.
50. Slakter JS, Giovannini A, Yannuzzi LA, Scassellati-Sforzolini B, Guyer DR, Sorenson JA, Spaide RF, Orlock D: Indocyanine green angiography of multifocal choroiditis. Ophthalmology 1997; 104: 1813-1819.
51. Delori FC, Dorey CK, Staurenghi G, Arend O, Goger DG, Weiter JJ: In vivo fluorescence of the ocular fundus exhibits retinal pigment epithelium lipofuscin characteristics. Invest Ophthalmol Vis Sci 1995; 36: 718-729.
52. Schmitz-Valckenberg S, Fleckenstein M, Spaide R, Holz FG: Autofluorescence Imaging; in Holz FG, Spaide RF (eds): Medical Retina. Essentials in Ophthalmology. Berlin, Springer, 2010, pp 41-49.
53. Wing GL, Blanchard GC, Weiter JJ: The topography and age relationship of lipofuscin concentration in the retinal pigment epithelium. Invest Ophthalmol Vis Sci 1978; 17: 601-607.
54. Sparrow JR, Boulton M: RPE lipofuscin and its role in retinal pathobiology. Exp Eye Res 2005; 80: 595-606.
55. Bergmann M, Schutt F, Holz FG, Kopitz J: Inhibition of the ATP-driven proton pump in RPE lysosomes by the major lipofuscin fluorophore A2-E may contribute to the pathogenesis of age-related macular degeneration. FASEB J 2004; 18: 562-564.
56. Bessems GJ, Keizer E, Wollensak J, Hoenders HJ: Non-tryptophan fluorescence of crystallins from normal and cataractous human lenses. Invest Ophthalmol Vis Sci 1987; 28: 1157-1163.
57. von Ruckmann A, Fitzke FW, Bird AC: Distribution of fundus autofluorescence with a scanning laser ophthalmoscope. Br J Ophthalmol 1995; 79: 407-412.
58. Delori FC, Fleckner MR, Goger DG, Weiter JJ, Dorey CK: Autofluorescence distribution associated with drusen in age-related macular degeneration. Invest Ophthalmol Vis Sci 2000; 41: 496-504.
59. Spaide RF: Fundus autofluorescence and age-related macular degeneration. Ophthalmology 2003; 110: 392-399.
60. Jorzik JJ, Bindewald A, Dithmar S, Holz FG: Digital simultaneous fluorescein and indocyanine green angiography, autofluorescence, and red-free imaging with a solidstate laser-based confocal scanning laser ophthalmoscope. Retina 2005; 25: 405-416.
61. Fleckenstein M, Schmitz-Valckenberg S, Holz FG: Autofluorescence imaging; in Sadda SR (ed): Retinal Imaging and Diagnostics. Retina, ed 5. Amsterdam, Elsevier, 2013, pp 111-132.
62. Cideciyan AV, Aleman TS, Swider M, Schwartz SB, Steinberg JD, Brucker AJ, Maguire AM, Bennett J, Stone EM, Jacobson SG: Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: A reappraisal of the human disease sequence. Hum Mol Genet 2004; 13: 525-534.
63. Chen Y, Roorda A, Duncan JL: Advances in imaging of Stargardt disease. Adv Exp Med Biol 2010; 664: 333-340.
64. Lois N, Halfyard AS, Bird AC, Holder GE, Fitzke FW: Fundus autofluorescence in Stargardt macular dystrophy-fundus flavimaculatus. Am J Ophthalmol 2004; 138: 55-63.
65. Bindewald A, Bird AC, Dandekar SS, Dolar-Szczasny J, Dreyhaupt J, Fitzke FW, Einbock W, Holz FG, Jorzik JJ, Keilhauer C, Lois N, Mlynski J, Pauleikhoff D, Staurenghi G, Wolf S: Classification of fundus autofluorescence patterns in early age-related macular disease. Invest Ophthalmol Vis Sci 2005; 46: 3309-3314.
66. Bindewald A, Schmitz-Valckenberg S, Jorzik JJ, Dolar-Szczasny J, Sieber H, Keilhauer C, Weinberger AW, Dithmar S, Pauleikhoff D, Mansmann U, Wolf S, Holz FG: Classification of abnormal fundus autofluorescence patterns in the junctional zone of geographic atrophy in patients with age related macular degeneration. Br J Ophthalmol 2005; 89: 874-878.
67. Robson AG, Michaelides M, Saihan Z, Bird AC, Webster AR, Moore AT, Fitzke FW, Holder GE: Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update. Doc Ophthalmol 2008; 116: 79-89.
68. Duncker T, Tabacaru MR, Lee W, Tsang SH, Sparrow JR, Greenstein VC: Comparison of near-infrared and shortwavelength autofluorescence in retinitis pigmentosa. Invest Ophthalmol Vis Sci 2013; 54: 585-591.
69. Lorenz B, Wabbels B, Wegscheider E, Hamel CP, Drexler W, Preising MN: Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65. Ophthalmology 2004; 111: 1585-1594.
70. Paskowitz DM, LaVail MM, Duncan JL: Light and inherited retinal degeneration. Br J Ophthalmol 2006; 90: 1060-1066.
71. Cideciyan AV, Swider M, Aleman TS, Roman MI, Sumaroka A, Schwartz SB, Stone EM, Jacobson SG: Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations. J Opt Soc Am A Opt Image Sci Vis 2007; 24: 1457-1467.
72. Keilhauer CN, Delori FC: Near-infrared autofluorescence imaging of the fundus: visualization of ocular melanin. Invest Ophthalmol Vis Sci 2006; 47: 3556-3564.
73. Boulton M, Dayhaw-Barker P: The role of the retinal pigment epithelium: topographical variation and ageing changes. Eye (Lond) 2001; 15: 384-389.
74. Kellner U, Kellner S, Weber BH, Fiebig B, Weinitz S, Ruether K: Lipofuscin-and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa. Eye (Lond) 2009; 23: 1349-1359.
75. Drexler W, Sattmann H, Hermann B, Ko TH, Stur M, Unterhuber A, Scholda C, Findl O, Wirtitsch M, Fujimoto JG, Fercher AF: Enhanced visualization of macular pathology with the use of ultrahigh-resolution optical coherence tomography. Arch Ophthalmol 2003; 121: 695-706.
76. Srinivasan VJ, Monson BK, Wojtkowski M, Bilonick RA, Gorczynska I, Chen R, Duker JS, Schuman JS, Fujimoto JG: Characterization of outer retinal morphology with high-speed, ultrahigh-resolution optical coherence tomography. Invest Ophthalmol Vis Sci 2008; 49: 1571-1579.
77. Lujan BJ, Roorda A, Knighton RW, Carroll J: Revealing Henle's fiber layer using spectral domain optical coherence tomography. Invest Ophthalmol Vis Sci 2011; 52: 1486-1492.
78. Spaide RF, Curcio CA: Anatomical correlates to the bands seen in the outer retina by optical coherence tomography: literature review and model. Retina 2011; 31: 1609-1619.
79. Spaide RF: Questioning optical coherence tomography. Ophthalmology 2012; 119: 2203-2204.e2201.
80. Lesch B, Szabo V, Kanya M, Somfai GM, Vamos R, Varsanyi B, Pamer Z, Knezy K, Salacz G, Janaky M, Ferencz M, Hargitai J, Papp A, Farkas A: Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. Mol Vis 2008; 14: 2321-2332.
81. Yu J, Ni Y, Keane PA, Jiang C, Wang W, Xu G: Foveomacular schisis in juvenile X-linked retinoschisis: an optical coherence tomography study. Am J Ophthalmol 2010; 149: 973-978.e972.
82. Thiadens AA, Somervuo V, van den Born LI, Roosing S, van Schooneveld MJ, Kuijpers RW, van Moll-Ramirez N, Cremers FP, Hoyng CB, Klaver CC: Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography. Invest Ophthalmol Vis Sci 2010; 51: 5952-5957.
83. Barthelmes D, Sutter FK, Kurz-Levin MM, Bosch MM, Helbig H, Niemeyer G, Fleischhauer JC: Quantitative analysis of OCT characteristics in patients with achromatopsia and blue-cone monochromatism. Invest Ophthalmol Vis Sci 2006; 47: 1161-1166.
84. Blatter C, Klein T, Grajciar B, Schmoll T, Wieser W, Andre R, Huber R, Leitgeb RA: Ultrahigh-speed non-invasive widefield angiography. J Biomed Opt 2012; 17: 070505.
85. Kim DY, Fingler J, Zawadzki RJ, Park SS, Morse LS, Schwartz DM, Fraser SE, Werner JS: Optical imaging of the chorioretinal vasculature in the living human eye. Proc Natl Acad Sci USA DOI: 10.1073/pnas.1307315110.
86. Roorda A, Romero-Borja F, Donnelly W III, Queener H, Hebert T, Campbell M: Adaptive optics scanning laser ophthalmoscopy. Opt Express 2002; 10: 405-412.
87. Godara P, Dubis AM, Roorda A, Duncan JL, Carroll J: Adaptive optics retinal imaging: emerging clinical applications. Optom Vis Sci 2010; 87: 930-941.
88. Duncan JL, Zhang Y, Gandhi J, Nakanishi C, Othman M, Branham KE, Swaroop A, Roorda A: High-resolution imaging with adaptive optics in patients with inherited retinal degeneration. Invest Ophthalmol Vis Sci 2007; 48: 3283-3291.
89. Genead MA, Fishman GA, Rha J, Dubis AM, Bonci DM, Dubra A, Stone EM, Neitz M, Carroll J: Photoreceptor structure and function in patients with congenital achromatopsia. Invest Ophthalmol Vis Sci 2011; 52: 7298-7308.
90. Choi SS, Doble N, Hardy JL, Jones SM, Keltner JL, Olivier SS, Werner JS: In vivo imaging of the photoreceptor mosaic in retinal dystrophies and correlations with visual function. Invest Ophthalmol Vis Sci 2006; 47: 2080-2092.
91. Wolfing JI, Chung M, Carroll J, Roorda A, Williams DR: High-resolution retinal imaging of cone-rod dystrophy. Ophthalmology 2006; 113: 1019.e1011.
92. Duncan JL, Talcott KE, Ratnam K, Sundquist SM, Lucero AS, Day S, Zhang Y, Roorda A: Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene. Invest Ophthalmol Vis Sci 2011; 52: 1557-1566.
93. Carroll J: Adaptive optics retinal imaging: applications for studying retinal degeneration. Arch Ophthalmol 2008; 126: 857-858.
94. Talcott KE, Ratnam K, Sundquist SM, Lucero AS, Lujan BJ, Tao W, Porco TC, Roorda A, Duncan JL: Longitudinal study of cone photoreceptors during retinal degeneration and in response to ciliary neurotrophic factor treatment. Invest Ophthalmol Vis Sci 2011; 52: 2219-2226.
95. Tuten WS, Tiruveedhula P, Roorda A: Adaptive optics scanning laser ophthalmoscope-based microperimetry. Optom Vis Sci 2012; 89: 563-574.