open access
Optical coherence tomography and fundus autofluorescence in children with infantile nystagmus syndrome and early-onset retinal dystrophy
- Community Health Centre Ljubljana, Ljubljana, Slovenia
- Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
open access
Abstract
Abstract
Keywords
early-onset retinal dystrophy; optical coherence tomography; autofluorescence; children; nystagmus
Title
Optical coherence tomography and fundus autofluorescence in children with infantile nystagmus syndrome and early-onset retinal dystrophy
Journal
Issue
Vol 4 (2019): Continuous Publishing
Article type
Original paper
Pages
64-76
Published online
2019-11-13
Page views
610
Article views/downloads
908
DOI
Bibliographic record
Ophthalmol J 2019;4:64-76.
Keywords
early-onset retinal dystrophy
optical coherence tomography
autofluorescence
children
nystagmus
Authors
Alma Kurent
Jelka Brecelj
Branka Stirn-Kranjc
- Casteels I, Harris CM, Shawkat F, et al. Nystagmus in infancy. Br J Ophthalmol. 1992; 76(7): 434–437.
- CEMAS Working Group. National Eye Institute Sponsored Workshop and Publication on The Classification of Eye Movement Abnormalities and Strabismus (CEMAS). National Institutes of Health, The National Eye Institute Publications (www.nei.nih.gov). 2001.
- Thomas MG, Gottlob I. Optical coherence tomography studies provides new insights into diagnosis and prognosis of infantile nystagmus: a review. Strabismus. 2012; 20(4): 175–180.
- Fahim AT, Khan NW, Zahid S, et al. Diagnostic fundus autofluorescence patterns in achromatopsia. Am J Ophthalmol. 2013; 156(6): 1211–1219.e2.
- Good PA, Searle AE, Campbell S, et al. Value of the ERG in congenital nystagmus. Br J Ophthalmol. 1989; 73(7): 512–515.
- Wabbels B, Demmler A, Paunescu K, et al. Fundus autofluorescence in children and teenagers with hereditary retinal diseases. Graefes Arch Clin Exp Ophthalmol. 2006; 244(1): 36–45.
- Huang D, Swanson EA, Lin CP, et al. Optical coherence tomography. Science. 1991; 254(5035): 1178–1181.
- Helb HM, Charbel Issa P, Fleckenstein M, et al. Clinical evaluation of simultaneous confocal scanning laser ophthalmoscopy imaging combined with high-resolution, spectral-domain optical coherence tomography. Acta Ophthalmol. 2010; 88(8): 842–849.
- Jacobson SG, Cideciyan AV, Aleman TS, et al. Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations. Invest Ophthalmol Vis Sci. 2008; 49(10): 4573–4577.
- Chen RWS, Greenberg JP, Lazow MA, et al. Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa. Am J Ophthalmol. 2012; 153(1): 143–54.e2.
- Genead MA, Fishman GA, Rha J, et al. Photoreceptor structure and function in patients with congenital achromatopsia. Invest Ophthalmol Vis Sci. 2011; 52(10): 7298–7308.
- Hood DC, Zhang X, Ramachandran R, et al. The inner segment/outer segment border seen on optical coherence tomography is less intense in patients with diminished cone function. Invest Ophthalmol Vis Sci. 2011; 52(13): 9703–9709.
- Lima LH, Sallum JMF, Spaide RF. Outer retina analysis by optical coherence tomography in cone-rod dystrophy patients. Retina. 2013; 33(9): 1877–1880.
- von Rückmann A, Fitzke FW, Bird AC. Distribution of fundus autofluorescence with a scanning laser ophthalmoscope. Br J Ophthalmol. 1995; 79(5): 407–412.
- Lois N, Halfyard AS, Bird AC, et al. Quantitative evaluation of fundus autofluorescence imaged "in vivo" in eyes with retinal disease. Br J Ophthalmol. 2000; 84(7): 741–745.
- Schmitz-Valckenberg S, Holz FG, Bird AC, et al. Fundus Autofluorescence Imaging. Review and Perspectives. Retina. 2008; 28(3): 385–409.
- Scholl HPN, Chong NH, Robson AG, et al. Fundus autofluorescence in patients with leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2004; 45(8): 2747–2752.
- Lorenz B, Wabbels B, Wegscheider E, et al. 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(8): 1585–1594.
- Oishi M, Oishi A, Ogino K, et al. Wide-field fundus autofluorescence abnormalities and visual function in patients with cone and cone-rod dystrophies. Invest Ophthalmol Vis Sci. 2014; 55(6): 3572–3577.
- Cronin TH, Hertle RW, Ishikawa H, et al. Spectral domain optical coherence tomography for detection of foveal morphology in patients with nystagmus. J AAPOS. 2009; 13(6): 563–566.
- Lee H, Proudlock FA, Gottlob I. Pediatric Optical Coherence Tomography in Clinical Practice-Recent Progress. Invest Ophthalmol Vis Sci. 2016; 57(9): OCT69–OCT79.
- Varsányi B, Somfai GM, Lesch B, et al. Optical coherence tomography of the macula in congenital achromatopsia. Invest Ophthalmol Vis Sci. 2007; 48(5): 2249–2253.
- 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.
- Thomas MG, McLean RJ, Kohl S, et al. Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia. Br J Ophthalmol. 2012; 96(9): 1232–1236.
- Hess DB, Asrani SG, Bhide MG, et al. Macular and retinal nerve fiber layer analysis of normal and glaucomatous eyes in children using optical coherence tomography. Am J Ophthalmol. 2005; 139(3): 509–517.
- El-Dairi MA, Asrani SG, Enyedi LB, et al. Optical coherence tomography in the eyes of normal children. Arch Ophthalmol. 2009; 127(1): 50–58.
- Eriksson U, Alm A. Repeatability in and interchangeability between the macular and the fast macular thickness map protocols: a study on normal eyes with Stratus optical coherence tomography. Acta Ophthalmol. 2009; 87(7): 725–730.
- Prakalapakorn SG, Freedman SF, Lokhnygina Y, et al. Longitudinal reproducibility of optical coherence tomography measurements in children. J AAPOS. 2012; 16(6): 523–528.
- Turk A, Ceylan OM, Arici C, et al. Evaluation of the nerve fiber layer and macula in the eyes of healthy children using spectral-domain optical coherence tomography. Am J Ophthalmol. 2012; 153(3): 552–559.e1.
- Huynh SC, Wang XY, Rochtchina E, et al. Distribution of macular thickness by optical coherence tomography: findings from a population-based study of 6-year-old children. Invest Ophthalmol Vis Sci. 2006; 47(6): 2351–2357.
- Beharić A, Stirn-Kranjc B, Brecelj J. Elektrofiziološka ocena mrežnice otrok s prirojenim nistagmusom. Zdr Vestn. 2012; 81: 73–82.
- Kurent A, Stirn-Kranjc B, Brecelj J. Electroretinographic characteristics in children with infantile nystagmus syndrome and early-onset retinal dystrophies. Eur J Ophthalmol. 2015; 25(1): 33–42.
- Eriksson U, Holmström G, Alm A, et al. A population-based study of macular thickness in full-term children assessed with Stratus OCT: normative data and repeatability. Acta Ophthalmol. 2009; 87(7): 741–745.
- Kellner U, Wissinger B, Tippmann S, et al. Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster. Graefes Arch Clin Exp Ophthalmol. 2004; 242(9): 729–735.
- Yang H, Yu T, Sun C, et al. Spectral-domain optical coherence tomography in patients with congenital nystagmus. Int J Ophthalmol. 2011; 4(6): 627–630.
- Lee H, Sheth V, Bibi M, et al. Potential of handheld optical coherence tomography to determine cause of infantile nystagmus in children by using foveal morphology. Ophthalmology. 2013; 120(12): 2714–2724.
- Lee H, Proudlock F, Gottlob I. Is handheld optical coherence tomography reliable in infants and young children with and without nystagmus? Invest Ophthalmol Vis Sci. 2013; 54(13): 8152–8159.
- Greenberg JP, Duncker T, Woods RL, et al. Quantitative fundus autofluorescence in healthy eyes. Invest Ophthalmol Vis Sci. 2013; 54(8): 5684–5693.
- Giani A, Cigada M, Choudhry N, et al. Reproducibility of retinal thickness measurements on normal and pathologic eyes by different optical coherence tomography instruments. Am J Ophthalmol. 2010; 150(6): 815–824.