Optical coherence tomography studies provides new insights into diagnosis and prognosis of infantile nystagmus: A review

Strabismus

Volumn 20, Issue 4, 2012, Pages 175-180

  Thomas, Mervyn G ^a   Gottlob, Irene ^a  

^a UNIVERSITY OF LEICESTER   (United Kingdom)

Author keywords

Achromatopsia; Fovea; Nystagmus; Optical coherence tomography; PAX6

Indexed keywords

TRANSCRIPTION FACTOR PAX6;

ALBINISM; COLOR BLINDNESS; DIAGNOSTIC IMAGING; GENE MUTATION; HUMAN; HYPOPLASIA; INFANT; INFANT DISEASE; NONHUMAN; NYSTAGMUS; OPTICAL COHERENCE TOMOGRAPHY; PATIENT SELECTION; PHOTORECEPTOR; PREDICTION; PRIORITY JOURNAL; PROGNOSIS; RETINA; RETINA CONE; RETINA FOVEA; REVIEW; VISUAL ACUITY;

ABNORMALITIES, MULTIPLE; COLOR VISION DEFECTS; DIAGNOSIS, DIFFERENTIAL; FOVEA CENTRALIS; HUMANS; NYSTAGMUS, CONGENITAL; PROGNOSIS; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 84870706507     PISSN: 09273972     EISSN: 17445132     Source Type: Journal    
DOI: 10.3109/09273972.2012.735336     Document Type: Review

References (33)

1. Akerblom H, Larsson E, Eriksson U, Holmstrom G. Central macular thickness is correlated with gestational age at birth in prematurely born children. Br J Ophthalmol 2011;95(6): 799-803.
2. Alexander JJ, Umino Y, Everhart D, et al. Restoration of cone vision in a mouse model of achromatopsia. Nature Med 2007;13(6): 685-687.
3. Barthelmes D, Sutter FK, Kurz-Levin MM, et al. Quantitative analysis of OCT characteristics in patients with achromatopsia and blue-cone monochromatism. Invest Ophthalmol Vis Sci 2006;47(3): 1161-1166.
4. Betts-Henderson J, Bartesaghi S, Crosier M, et al. The nystagmusassociated FRMD7 gene regulates neuronal outgrowth and development. Hum Mol Genet 2009;19(2): 342-351.
5. Biel M, Seeliger M, Pfeifer A, et al. Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3. Proc Natl Acd Sci USA 1999;96(13): 7553-7557.
6. Chang B, Dacey MS, Hawes NL, et al. Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2. Invest Ophthalmol Vis Sci 2006;47(11): 5017-5021.
7. Chong GT, Farsiu S, Freedman SF, et al. Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography. Arch Ophthalmol 2009;127(1): 37-44.
8. Creel DJ, Summers CG, King RA. Visual anomalies associated with albinism. Ophthalmic Paediatr Genet 1990;11(3): 193-200.
9. Drexler W, Fujimoto JG. State-of-the-art retinal optical coherence tomography. Prog Retin Eye Res 2008;27(1): 45-88.
10. Gottlob I. Nystagmus. Current Opin Ophthalmol 2000;11(5): 330-335.
11. Hammer DX, Iftimia NV, Ferguson RD, et al. Foveal fine structure in retinopathy of prematurity: an adaptive optics Fourier domain optical coherence tomography study. Invest Ophthalmol Vis Sci 2008;49(5): 2061-2070.
12. Hanson IM, Seawright A, Hardman K, et al. PAX6 mutations in aniridia. Human Mol Genet 1993;2(7): 915-920.
13. Harvey PS, King RA, Summers CG. Spectrum of foveal development in albinism detected with optical coherence tomography. J AAPOS 2006;10(3): 237-242.
14. Hendrickson AE, Yuodelis C. The morphological development of the human fovea. Ophthalmology 1984;91(6): 603-612.
15. Holmstrom G, Eriksson U, Hellgren K, Larsson E. Optical coherence tomography is helpful in the diagnosis of foveal hypoplasia. Acta Ophthalmol 2009;88(4): 439-442.
16. Jacobs JB, Dell'Osso LF, Hertle RW, Acland GM, Bennett J. Eye movement recordings as an effectiveness indicator of gene therapy in RPE65-deficient canines: implications for the ocular motor system. Invest Ophthalmol Vis Sci 2006;47(7): 2865-2875.
17. Maguire AM, High KA, Auricchio A, et al. Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet 2009;374(9701): 1597-1605.
18. Marmor MF, Choi SS, Zawadzki RJ, Werner JS. Visual insignificance of the foveal pit: reassessment of foveal hypoplasia as fovea plana. Arch Ophthalmol 2008;126(7): 907-913.
19. Michaelides M, Hunt DM, Moore AT. The cone dysfunction syndromes. Br J Ophthalmol 2004;88(2): 291-297.
20. Michalakis S, Geiger H, Haverkamp S, Hofmann F, Gerstner A, Biel M. Impaired opsin targeting and cone photoreceptor migration in the retina of mice lacking the cyclic nucleotide-gated channel CNGA3. Invest Ophthalmol Vis Sci 2005;46(4): 1516-1524.
21. Mietz H, Green WR, Wolff SM, Abundo GP. Foveal hypoplasia in complete oculocutaneous albinism: a histopathologic study. Retina 1992;12(3): 254-260.
22. Mohammad S, Gottlob I, Kumar A, et al. The functional significance of foveal abnormalities in albinism measured using spectral-domain optical coherence tomography. Ophthalmology 2011;118(8): 1645-1652.
23. Narfstrom K, Katz ML, Bragadottir R, et al. Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog. Invest Ophthalmol Vis Sci 2003;44(4): 1663-1672.
24. Prosser J, van Heyningen V. PAX6 mutations reviewed. Hum Mutat 1998;11(2): 93-108.
25. Seo JH, Yu YS, Kim JH, Choung HK, Heo JW, Kim SJ. Correlation of visual acuity with foveal hypoplasia grading by optical coherence tomography in albinism. Ophthalmology 2007;114(8): 1547-1551.
26. Sergouniotis PI, Holder GE, Robson AG, Michaelides M, Webster AR, Moore AT. High-resolution optical coherence tomography imaging in KCNV2 retinopathy. Br J Ophthalmol 2011;96(2): 213-217.
27. Tarpey P, Thomas S, Sarvananthan N, et al. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet 2006;38(11): 1242-1244.
28. Thiadens AA, Somervuo V, van den Born LI, et al. Progressive loss of cones in achromatopsia: an imaging study using spectraldomain optical coherence tomography. Invest Ophthalmol Vis Sci 2010 51(11): 5952-5957.
29. Thomas MG, Kumar A, Mohammad S, et al. Structural grading of foveal hypoplasia using spectral domain optical coherence tomography; a predictor of visual acuity? Ophthalmology 2011a;118(8): 1653-1660.
30. Thomas MG, Crosier M, Lindsay S, et al. The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus. Brain 2011b;134(3): 892-902.
31. Thomas MG, Kumar A, Kohl S, et al. High-resolution in vivo imaging in achromatopsia. Ophthalmology 2011c;118(5): 882-887.
32. Thomas MG, Kumar A, Thompson JR, Proudlock FA, Straatman K, Gottlob I. Is high-resolution spectral domain optical coherence tomography reliable in nystagmus? Br J Ophthalmol 2011d.(Epub ahead of print).
33. Varsanyi B, Somfai GM, Lesch B, Vamos R, Farkas A. Optical coherence tomography of the macula in congenital achromatopsia. Invest Ophthalmol Vis Sci 2007;48(5): 2249-2253.