Pathognomonic (diagnostic) ERGs A Review and Update

Retina

Volumn 33, Issue 1, 2013, Pages 5-12

  Vincent, Ajoy ^a   Robson, Anthony ^b,c   Holder, Graham ^b,c  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNV2; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR NR2E3; UNCLASSIFIED DRUG;

B WAVE; BRADYOPSIA; ELECTROPHYSIOLOGY; ELECTRORETINOGRAM; ELECTRORETINOGRAPHY; ENHANCED S CONE SYNDROME; GENE MUTATION; GENETIC SCREENING; HUMAN; MUTATIONAL ANALYSIS; NIGHT BLINDNESS; NYSTAGMUS; PATTERN ELECTRORETINOGRAM; PHOTOTRANSDUCTION; RETINA CONE DYSTROPHY SUPERNORMAL ROD ERG; RETINA DISEASE; REVIEW; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; VISUAL ACUITY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; DIAGNOSIS, DIFFERENTIAL; ELECTROPHYSIOLOGY; ELECTRORETINOGRAPHY; EYE DISEASES, HEREDITARY; HUMANS; MEMBRANE PROTEINS; ORPHAN NUCLEAR RECEPTORS; POTASSIUM CHANNELS, VOLTAGE-GATED; RETINAL DEGENERATION; RETINITIS PIGMENTOSA; VISION DISORDERS;

EID: 84872075197     PISSN: 0275004X     EISSN: 15392864     Source Type: Journal    
DOI: 10.1097/IAE.0b013e31827e2306     Document Type: Review

References (33)

1. Marmor MF, Fulton AB, Holder GE, et al. Standard for clinical electroretinography (2008 update). Doc Ophthalmol 2009;118: 69-77.
2. Frishman LJ. Origins of the electroretinogram. In: Heckenlively JR, Arden GB, eds. Principles and Practice of Clinical Electrophysiology of Vision. 2nd ed. Cambridge, MA: MIT Press; 2006:139-183.
3. Robson AG, Webster AR, Michaelides M, et al. "Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology. Retina 2010;30:51-62.
4. Sieving PA, Bush RA. Inner retinal contributions to the primate photopic fast flicker electroretinogram. J Opt Soc Am A Opt Image Sci Vis 1996;13:557-565.
5. Bush RA, Sieving PA. A proximal retinal component in the primate photopic ERG a-wave. Invest Ophthalmol Vis Sci 1994;35:635-645.
6. Luo X, Frishman LJ. Retinal pathway origins of the pattern electroretinogram (PERG). Invest Ophthalmol Vis Sci 2011; 52:8571-8584.
7. Holder GE. The pattern electroretinogram and an integrated approach to visual pathway diagnosis. Prog Retin Eye Res 2001;20:531-561.
8. Bach M, Brigell MG, Hawlina M, et al. ISCEV standard for clinical pattern electroretinography (PERG): 2012 update. Doc Ophthalmol. 2012 Oct 17. [Epub ahead of print].
9. Arden G, Wolf J, Berninger T, et al. S-cone ERGs elicited by a simple technique in normals and in tritanopes. Vis Res 1999; 39:641-650.
10. Audo I, Michaelides M, Robson AG, et al. Phenotypic variation in enhanced S-cone syndrome. Invest Ophthalmol Vis Sci 2008; 49:2082-2093.
11. Sustar M, Hawlina M, Brecelj J. ON- and OFF-response of the photopic electro-retinogram in relation to stimulus characteristics. Doc Ophthalmol 2006;113:43-52.
12. Gouras P, Eggers HM, MacKay CJ. Cone dystrophy, nyctalopia, and supernormal rod responses. A new retinal degeneration. Arch Ophthalmol 1983;101:718-724.
13. Wu H, Cowing JA, Michaelides M, et al. Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans. Am J Hum Genet 2006;79:574-579.
14. Michaelides M, Holder GE, Webster AR, et al. A detailed phenotypic study of "cone dystrophy with supernormal rod ERG". Br J Ophthalmol 2005;89:332-339.
15. Salah SB, Kamei S, Sénéćhal A, et al. Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram. Am J Ophthalmol 2008;145:1099-1106.
16. Khan AO, Alrashed M, Alkuraya FS. Cone dystrophy with supernormal rod response in children. Br J Ophthalmol 2012; 96:422-426.
17. Friedburg C, Wissinger B, Schambeck M, et al. Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2. Invest Ophthalmol Vis Sci 2011;52:8621-8629.
18. Sergouniotis PI, Holder GE, Robson AG, et al. High-resolution optical coherence tomography imaging in KCNV2 retinopathy. Br J Ophthalmol 2012;96:213-217.
19. Marmor MF, Jacobson SG, Foerster MH, et al. Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. Am J Ophthalmol 1990;110:124-134.
20. Haider NB, Jacobson SG, Cideciyan AV, et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet 2000;24: 127-131.
21. Milam AH, Rose L, Cideciyan AV, et al. The nuclear receptor NR2E3 plays a role in human photoreceptor differentiation and degeneration. Proc Natl Acad Sci U S A 2002;99:473-478.
22. Lam BL, Goldberg JL, Hartley KL, et al. Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene. Am J Ophthalmol 2007;144:157-159.
23. Coppieters F, Leroy BP, Beysen D, et al. Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. Am J Hum Genet 2007;81:147-157.
24. Escher P, Gouras P, Roduit R, et al. Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. Hum Mutat 2009;30:342-351.
25. Akhmedov NB, Piriev NI, Chang B, et al. A deletion in a photoreceptor- specific nuclear receptor mRNA causes retinal degeneration in rd7 mouse. Proc Natl Acad Sci U S A 2000; 97:5551-5556.
26. Haider NB, Naggert JK, Nishina PM. Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice. Hum Mol Genet 2001;10:1619-1626.
27. Kooijman AC, Houtman A, Damhof A, van Engelen JP. Prolonged electro-retinal response suppression (PERRS) in patients with stationary subnormal visual acuity and photophobia. Doc Ophthalmol 1991;78:245-254.
28. Nishiguchi KM, Sandberg MA, Kooijman AC, et al. Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. Nature 2004;427:75-78.
29. Cheng JY, Luu CD, Yong VH, et al. Bradyopsia in an Asian man. Arch Ophthalmol 2007;125:1138-1140.
30. Hartong DT, Pott JW, Kooijman AC. Six patients with bradyopsia (slow vision): clinical features and course of the disease. Ophthalmology 2007;114:2323-2331.
31. Michaelides M, Li Z, Rana NA, et al. Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia). Ophthalmology 2010;117: 120-127.
32. Chen CK, Burns ME, He W, et al. Slowed recovery of rod photoresponse in mice lacking the GTPase accelerating protein RGS9-1. Nature 2000;403:557-560.
33. Lyubarsky AL, Naarendorp F, Zhang X, et al. RGS9-1 is required for normal inactivation of mouse cone phototransduction. Mol Vis 2001;7:71-78.