Interocular Symmetry of Foveal Cone Topography in Congenital Achromatopsia

References

• Hirji N, Aboshiha J, Georgiou M, Bainbridge J, Michaelides M. Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options. Ophthalmic Genet. 2018;39(2):149–57. doi:10.1080/13816810.2017.1418389.
   PubMed Web of Science ®Google Scholar
• Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet. 1998;19(3):257–59. doi:10.1038/935.
   PubMed Web of Science ®Google Scholar
• Kohl S, Zobor D, Chiang W, Weisschuh N, Staller J, Menendez IG, Chang S, Beck SC, Garrido MG, Sothilingam V, et al. Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. Nat Genet. 2015;47(7):757–65. doi:10.1038/ng.3319.
   PubMed Web of Science ®Google Scholar
• Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC, European Retinal Disease Consortium, et al. A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet. 2012;91(3):527–32. doi:10.1016/j.ajhg.2012.07.006.
   PubMed Web of Science ®Google Scholar
• Kohl S, Baumann B, Broghammer M, Jägle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, et al. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet. 2000;9(14):2107–16. doi:10.1093/hmg/9.14.2107.
   PubMed Web of Science ®Google Scholar
• Kohl S, Baumann B, Rosenberg T, Kellner U, Lorenz B, Vadalà M, Jacobson SG, Wissinger B. Mutations in the cone photoreceptor G-protein α-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet. 2002;71(2):422–25. doi:10.1086/341835.
   PubMed Web of Science ®Google Scholar
• Thiadens AA, Slingerland NW, Roosing S, van Schooneveld MJ, van Lith-verhoeven JJ, van Moll-ramirez N, van den Born LI, Hoyng CB, Cremers FP, Klaver CC. Genetic etiology and clinical consequences of complete and incomplete achromatopsia. Ophthalmology. 2009;116(10):1984–89. doi:10.1016/j.ophtha.2009.03.053.
   PubMed Web of Science ®Google Scholar
• Langlo CS, Patterson EJ, Higgins BP, Summerfelt P, Razeen MM, Erker LR, Parker M, Collison FT, Fishman GA, Kay CN, et al. Residual foveal cone structure in CNGB3-associated achromatopsia. Invest Ophthalmol Vis Sci. 2016;57(10):3984–95. doi:10.1167/iovs.16-19313.
   PubMed Web of Science ®Google Scholar
• Langlo CS, Erker LR, Parker M, Patterson EJ, Higgins BP, Summerfelt P, Razeen MM, Collison FT, Fishman GA, Kay CN, et al. Repeatability and longitudinal assessment of foveal cone structure in CNGB3-associated achromatopsia. Retina. 2017;37(10):1956–66. doi:10.1097/IAE.0000000000001434.
   PubMed Web of Science ®Google Scholar
• Georgiou M, Litts KM, Kalitzeos A, Langlo CS, Kane T, Singh N, Kassilian M, Hirji N, Kumaran N, Dubra A, et al. Adaptive optics retinal imaging in CNGA3-associated achromatopsia: retinal characterization, interocular symmetry, and intrafamilial variability. Invest Ophthalmol Vis Sci. 2019;60(1):383–96. doi:10.1167/iovs.18-25880.
   PubMed Web of Science ®Google Scholar
• Mastey RR, Gaffney M, Litts KM, Langlo CS, Patterson EJ, Strampe MR, Kalitzeos A, Michaelides M, Carroll J. Assessing the interocular symmetry of foveal outer nuclear layer thickness in achromatopsia. Transl Vis Sci Technol. 2019;8(5):21. doi:10.1167/tvst.8.5.21.
   PubMed Web of Science ®Google Scholar
• Sundaram V, Wilde C, Aboshiha J, Cowing J, Han C, Langlo CS, Chana R, Davidson AE, Sergouniotis PI, Bainbridge JW, et al. Retinal structure and function in achromatopsia: implications for gene therapy. Ophthalmology. 2014;121(1):234–45. doi:10.1016/j.ophtha.2013.08.017.
   PubMed Web of Science ®Google Scholar
• Abozaid MA, Langlo CS, Dubis AM, Michaelides M, Tarima S, Carroll J. Reliability and repeatability of cone density measurements in patients with congenital achromatopsia. Adv Exp Med Biol. 2016;854:277–83.
   PubMed Web of Science ®Google Scholar
• Scoles D, Sulai YN, Langlo CS, Fishman GA, Curcio CA, Carroll J, Dubra A. In vivo imaging of human cone photoreceptor inner segments. Invest Ophthalmol Vis Sci. 2014;55(7):4244–51. doi:10.1167/iovs.14-14542.
   PubMed Web of Science ®Google Scholar
• Dubis AM, Cooper RF, Aboshiha J, Langlo CS, Sundaram V, Liu B, Collison F, Fishman GA, Moore AT, Webster AR, et al. Genotype-dependent variability in residual cone structure in achromatopsia: towards developing metrics for assessing cone health. Invest Ophthalmol Vis Sci. 2014;55(11):7303–11. doi:10.1167/iovs.14-14225.
   PubMed Web of Science ®Google Scholar
• Hirji N, Georgiou M, Kalitzeos A, Bainbridge JW, Kumaran N, Aboshiha J, Carroll J, Michaelides M. Longitudinal assessment of retinal structure in achromatopsia patients with long-term follow-up. Invest Ophthalmol Vis Sci. 2018;59(15):5735–44. doi:10.1167/iovs.18-25452.
   PubMed Web of Science ®Google Scholar
• Aboshiha J, Dubis AM, Cowing J, Fahy RT, Sundaram V, Bainbridge JW, Ali RR, Dubra A, Nardini M, Webster AR, et al. A prospective longitudinal study of retinal structure and function in achromatopsia. Invest Ophthalmol Vis Sci. 2014;55(9):5733–43. doi:10.1167/iovs.14-14937.
   PubMed Web of Science ®Google Scholar
• Dubra A, Sulai Y. Reflective afocal broadband adaptive optics scanning ophthalmoscope. Biomed Opt Express. 2011;2(6):1757–68. doi:10.1364/BOE.2.001757.
   PubMed Web of Science ®Google Scholar
• Tanna P, Kasilian M, Strauss R, Tee J, Kalitzeos A, Tarima S, Visotcky A, Dubra A, Carroll J, Michaelides M. Reliability and repeatability of cone density measurements in patients with Stargardt disease and RPGR-associated retinopathy. Invest Ophthalmol Vis Sci. 2017;58(9):3608–15. doi:10.1167/iovs.17-21904.
   PubMed Web of Science ®Google Scholar
• Dubra A, Harvey Z. Registration of 2D images from fast scanning ophthalmic instruments. In: Fischer B, Dawant B and Lorenz C editors. Registration of 2D images from fast scanning ophthalmic instruments. Biomedical image registration. Berlin, Germany: Springer-Verlag; 2010.
   Google Scholar
• Salmon AE, Cooper RF, Langlo CS, Baghaie A, Dubra A, Carroll J. An automated reference frame selection (ARFS) algorithm for cone imaging with adaptive optics scanning light ophthalmoscopy. Transl Vis Sci Technol. 2017;6(2):9. doi:10.1167/tvst.6.2.9.
   PubMed Web of Science ®Google Scholar
• Chen M, Cooper RF, Han GK, Gee J, Brainard DH, Morgan JI. Multi-modal automatic montaging of adaptive optics retinal images. Biomed Opt Express. 2016;7(12):4899–918. doi:10.1364/BOE.7.004899.
   PubMed Web of Science ®Google Scholar
• Emsley H. Visual optics. 5th ed. London (UK). Butterworth & Co. Visual Optics; 1953.
   Google Scholar
• Schneider CA, Rasband WS, Eliceiri KW. NIH Image to ImageJ: 25 years of image analysis. Nat Methods. 2012;9(7):671–75. doi:10.1038/nmeth.2089.
   PubMed Web of Science ®Google Scholar
• Cunefare D, Cooper RF, Higgins B, Katz DF, Dubra A, Carroll J, Farsiu S. Automatic detection of cone photoreceptors in split detector adaptive optics scanning light ophthalmoscope images. Biomed Opt Express. 2016;7(5):2036–50. doi:10.1364/BOE.7.002036.
   PubMed Web of Science ®Google Scholar
• Bland JM, Altman DG. Measuring agreement in method comparison studies. Stat Methods Med Res. 1999;8(2):135–60. doi:10.1177/096228029900800204.
   PubMed Web of Science ®Google Scholar
• Bartlett JW, Frost C. Reliability, repeatability and reproducibility: analysis of measurement errors in continuous variables. Ultrasound Obstet Gynecol. 2008;31(14):466–75. doi:10.1002/uog.5256.
   PubMed Web of Science ®Google Scholar
• Zhang T, Godara P, Blancob ER, Griffin RL, Wang X, Curcio CA, Zhang Y. Variability in human cone topography assessed by adaptive optics scanning laser ophthalmoscopy. Am J Ophthalmol. 2015;160(2):290–300. doi:10.1016/j.ajo.2015.04.034.
   PubMed Web of Science ®Google Scholar
• Wang Y, Bensaid N, Tiruveedhula P, Ma J, Ravikumar S, Roorda A. Human foveal cone photoreceptor topography and its dependence on eye length. eLife. 2019;8:e47148. doi:10.7554/eLife.47148.
   PubMed Web of Science ®Google Scholar
• Wilk MA, Wilk BM, Langlo CS, Cooper RF, Carroll J. Evaluating outer segment length as a surrogate measure of peak foveal cone density. Vision Res. 2017;130:57–66. doi:10.1016/j.visres.2016.10.012.
   PubMed Web of Science ®Google Scholar
• Matet A, Kohl S, Baumann B, Antonio A, Mohand-Said S, Sahel JA, Audo I. Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia. Sci Rep. 2018;8(1):5665. doi:10.1038/s41598-018-23919-w.
   PubMed Web of Science ®Google Scholar
• Cava JA, Allphin M, Mastey RR, Cooper RF, Carroll J. Assessing interocular symmetry of foveal cone density. Invest Ophthalmol Vis Sci. 2019;60:E-Abstract:4578.
   Web of Science ®Google Scholar
• Zobor D, Werner A, Stanzial F, Benedicenti F, Rudolph G, Kellner U, Hamel C, Andréasson S, Zobor G, Strasser T, et al. The clinical phenotype of CNGA3-related achromatopsia: pretreatment characterization in preparation of a gene replacement therapy trial. Invest Ophthalmol Vis Sci. 2017;58(2):821–32. doi:10.1167/iovs.16-20427.
   PubMed Web of Science ®Google Scholar
• Aboshiha J, Luong V, Cowing J, Dubis AM, Bainbridge JW, Ali RR, Webster AR, Moore AT, Fitzke FW, Michaelides M. Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials. Invest Ophthalmol Vis Sci. 2014;55(10):6340–49. doi:10.1167/iovs.14-14910.
   PubMed Web of Science ®Google Scholar
• Davidson B, Kalitzeos A, Carroll J, Dubra A, Ourselin S, Michaelides M, Bergeles C. Automatic cone photoreceptor localisation in healthy and Stargardt afflicted retinas using deep learning. Sci Rep. 2018;8(1):7911. doi:10.1038/s41598-018-26350-3.
   PubMed Web of Science ®Google Scholar
• Cunefare D, Fang L, Cooper RF, Dubra A, Carroll J, Farsiu S. Open source software for automatic detection of cone photoreceptors in adaptive optics ophthalmoscopy using convolutional neural networks. Sci Rep. 2017;7(1):6620. doi:10.1038/s41598-017-07103-0.
   PubMed Web of Science ®Google Scholar
• Cunefare D, Langlo CS, Patterson EJ, Blau S, Dubra A, Carroll J, Farsiu S. Deep learning based detection of cone photoreceptors with multimodal adaptive optics scanning light ophthalmoscope images of achromatopsia. Biomed Opt Express. 2018;9(8):3740–56. doi:10.1364/BOE.9.003740.
   PubMed Web of Science ®Google Scholar
• Curcio CA, Sloan KR, Kalina RE, Hendrickson AE. Human photoreceptor topography. J Comp Neurol. 1990;292(4):497–523. doi:10.1002/()1096-9861.
   PubMed Web of Science ®Google Scholar
• Baseler HA, Brewer AA, Sharpe LT, Morland AB, Jägle H, Wandell BA. Reorganization of human cortical maps caused by inherited photoreceptor anomalies. Nat Neurosci. 2002;5(4):364–70. doi:10.1038/nn817.
   PubMed Web of Science ®Google Scholar