Optical Coherence Tomography Studies Provides New Insights into Diagnosis and Prognosis of Infantile Nystagmus: A Review

REFERENCES

• 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.
   Google Scholar
• 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.
   Google Scholar
• 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.
   Google Scholar
• Betts-Henderson J, Bartesaghi S, Crosier M, et al. The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development. Hum Mol Genet 2009;19(2):342–351.
   Google Scholar
• 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.
   Google Scholar
• 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.
   Google Scholar
• 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.
   PubMedGoogle Scholar
• Creel DJ, Summers CG, King RA. Visual anomalies associated with albinism. Ophthalmic Paediatr Genet 1990;11(3):193–200.
   Google Scholar
• Drexler W, Fujimoto JG. State-of-the-art retinal optical coherence tomography. Prog Retin Eye Res 2008;27(1):45–88.
   PubMed Web of Science ®Google Scholar
• Gottlob I. Nystagmus. Current Opin Ophthalmol 2000;11(5):330–335.
   Google Scholar
• 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.
   Google Scholar
• Hanson IM, Seawright A, Hardman K, et al. PAX6 mutations in aniridia. Human Mol Genet 1993;2(7):915–920.
   Google Scholar
• Harvey PS, King RA, Summers CG. Spectrum of foveal development in albinism detected with optical coherence tomography. J AAPOS 2006;10(3):237–242.
   Google Scholar
• Hendrickson AE, Yuodelis C. The morphological development of the human fovea. Ophthalmology 1984;91(6):603–612.
   Google Scholar
• 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.
   Google Scholar
• 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.
   Google Scholar
• 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.
   PubMedGoogle Scholar
• 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.
   Google Scholar
• Michaelides M, Hunt DM, Moore AT. The cone dysfunction syndromes. Br J Ophthalmol 2004;88(2):291–297.
   Google Scholar
• 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.
   Google Scholar
• Mietz H, Green WR, Wolff SM, Abundo GP. Foveal hypoplasia in complete oculocutaneous albinism: a histopathologic study. Retina 1992;12(3):254–260.
   Google Scholar
• 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.
   Google Scholar
• 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.
   Google Scholar
• Prosser J, van Heyningen V. PAX6 mutations reviewed. Hum Mutat 1998;11(2):93–108.
   Google Scholar
• 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.
   Google Scholar
• 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.
   Google Scholar
• 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.
   Google Scholar
• Thiadens AA, Somervuo V, van den Born LI, et al. Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography. Invest Ophthalmol Vis Sci 2010 51(11):5952–5957.
   Google Scholar
• 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.
   Google Scholar
• 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.
   Google Scholar
• Thomas MG, Kumar A, Kohl S, et al. High-resolution in vivo imaging in achromatopsia. Ophthalmology 2011c;118(5):882–887.
   Google Scholar
• 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).
   Google Scholar
• 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.
   Google Scholar