Retinal morphology of patients with achromatopsia during early childhood: Implications for gene therapy

JAMA Ophthalmology

Volumn 132, Issue 7, 2014, Pages 823-831

  Yang, Paul ^a   Michaels, Keith V ^a   Courtney, Robert J ^a   Wen, Yuquan ^b   Greninger, Daniel A ^a   Reznick, Leah ^a   Karr, Daniel J ^a   Wilson, Lorri B ^a   Weleber, Richard G ^a   Pennesi, Mark E ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; COLOR BLINDNESS; CONTACT LENS; CONTROLLED STUDY; DARK ADAPTATION; ELECTRODE; ELECTRORETINOGRAM; ELECTRORETINOGRAPHY; EYE EXAMINATION; FEMALE; GENE MUTATION; GENE THERAPY; GENETIC SCREENING; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; MALE; MORPHOLOGY; PATIENT REFERRAL; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA FOVEA; RETINA MACULA LUTEA; RETINAL THICKNESS; SCHOOL CHILD; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY;

CHILD; CHILD, PRESCHOOL; COLOR VISION DEFECTS; CYCLIC NUCLEOTIDE-GATED CATION CHANNELS; DARK ADAPTATION; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; FRAMESHIFT MUTATION; GENETIC ASSOCIATION STUDIES; GENETIC THERAPY; HUMANS; INFANT; MALE; NYSTAGMUS, PATHOLOGIC; PHOTOPHOBIA; REFRACTIVE ERRORS; RETINA; RETINAL DISEASES; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY;

EID: 84904170843     PISSN: 21686165     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaophthalmol.2014.685     Document Type: Article

References (37)

1. Michaelides M, Hunt DM, Moore AT. The cone dysfunction syndromes. Br J Ophthalmol. 2004;88(2):291-297. (Pubitemid 38142106)
2. Pokorny J, Smith VC, Pinckers AJ, Cozijnsen M. Classification of complete and incomplete autosomal recessive achromatopsia. Graefes Arch Clin Exp Ophthalmol. 1982;219(3):121-130. (Pubitemid 12033135)
3. Falls HF,Wolter JR, Alpern M. Typical total monochromacy: a histological and psychophysical study. Arch Ophthalmol. 1965;74(5):610-616.
4. Glickstein M, Heath GG. Receptors in the monochromat eye. Vision Res. 1975;15(6):633-636.
5. Harrison R, Hoefnagel D, Hayward JN. Congenital total color blindness: a clinicopathological report. Arch Ophthalmol. 1960;64:685-692.
6. Larsen H. Demonstrationmikroskopischer praparate von einem monochromatischen Auge. Klin Monatsbl Augenheilkd. 1921;67:301-302.
7. Kohl S, Baumann B, Broghammer M, 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):2107-2116.
8. Wissinger B, Gamer D, Jägle H, et al. CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet. 2001;69(4):722-737. (Pubitemid 32868518)
9. Sundin OH, Yang JM, Li Y, et al. Genetic basis of total colourblindness among the Pingelapese islanders. Nat Genet. 2000;25(3):289-293. (Pubitemid 30437314)
10. Kohl S, Baumann B, Rosenberg T, et al. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet. 2002;71(2):422-425. (Pubitemid 34800258)
11. Thiadens AA, den Hollander AI, Roosing S, et al. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet. 2009;85(2):240-247.
12. Kohl S, Coppieters F, Meire F, et al European Retinal Disease Consortium. A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. AmJ Hum Genet. 2012;91(3):527-532.
13. Alexander JJ, Umino Y, Everhart D, et al. Restoration of cone vision in a mouse model of achromatopsia. Nat Med. 2007;13(6):685-687. (Pubitemid 46889758)
14. Carvalho LS, Xu J, Pearson RA, et al. Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy. Hum Mol Genet. 2011;20(16):3161-3175.
15. Komáromy AM, Alexander JJ, Rowlan JS, et al. Gene therapy rescues cone function in congenital achromatopsia. Hum Mol Genet. 2010;19(13):2581-2593.
16. Nishiguchi KM, Sandberg MA, Gorji N, Berson EL, Dryja TP. Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Hum Mutat. 2005;25(3):248-258. (Pubitemid 40365143)
17. Varsányi B, Somfai GM, Lesch B, Vámos R, Farkas A. Optical coherence tomography of the macula in congenital achromatopsia. Invest Ophthalmol Vis Sci. 2007;48(5):2249-2253. (Pubitemid 351261302)
18. 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.
19. 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.
20. Thomas MG, Kumar A, Kohl S, Proudlock FA, Gottlob I. High-resolution in vivo imaging in achromatopsia. Ophthalmology. 2011;118(5):882-887.
21. Thomas MG, McLean RJ, Kohl S, Sheth V, Gottlob I. Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia. Br J Ophthalmol. 2012;96(9):1232-1236.
22. Chavala SH, Farsiu S, Maldonado R, Wallace DK, Freedman SF, Toth CA. Insights into advanced retinopathy of prematurity using handheld spectral domain optical coherence tomography imaging. Ophthalmology. 2009;116(12):2448-2456.
23. 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.
24. Gerth C, Zawadzki RJ, Héon E, Werner JS. High-resolution retinal imaging in young children using a handheld scanner and Fourier-domain optical coherence tomography. J AAPOS. 2009;13(1):72-74.
25. Muni RH, Kohly RP, Sohn EH, Lee TC. Hand-held spectral domain optical coherence tomography finding in shaken-baby syndrome. Retina. 2010;30(4)(suppl):S45-S50.
26. Rootman DB, Gonzalez E, Mallipatna A, et al. Hand-held high-resolution spectral domain optical coherence tomography in retinoblastoma: clinical and morphologic considerations. Br J Ophthalmol. 2013;97(1):59-65.
27. Scott AW, Farsiu S, Enyedi LB, Wallace DK, Toth CA. Imaging the infant retina with a hand-held spectral-domain optical coherence tomography device. Am J Ophthalmol. 2009;147(2):364-373, e2.
28. Lalwani K, Tompkins BD, Burnes K, Krahmer MR, Pennesi ME,Weleber RG. The "dark" side of sedation: 12 years of office-based pediatric deep sedation for electroretinography in the dark. Paediatr Anaesth. 2011;21(1):65-71.
29. Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M; International Society for Clinical Electrophysiology of Vision. ISCEV Standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol. 2009;118(1):69-77.
30. Thévenaz P, Ruttimann UE, Unser M. A pyramid approach to subpixel registration based on intensity. IEEE Trans Image Process. 1998;7(1):27-41. (Pubitemid 128745320)
31. Lujan BJ, Roorda A, Knighton RW, Carroll J. Revealing Henle's fiber layer using spectral domain optical coherence tomography. Invest Ophthalmol Vis Sci. 2011;52(3):1486-1492.
32. Otani T, Yamaguchi Y, Kishi S. Improved visualization of Henle fiber layer by changing the measurement beam angle on optical coherence tomography. Retina. 2011;31(3):497-501.
33. Lima LH, Sallum JM, Spaide RF. Outer retina analysis by optical coherence tomography in cone-rod dystrophy patients. Retina. 2013;33(9):1877-1880.
34. Vincent A, Wright T, Billingsley G, Westall C, Héon E. Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders. Ophthalmic Genet. 2011;32(2):107-113.
35. Michaelides M, Aligianis IA, Ainsworth JR, et al. Progressive cone dystrophy associated with mutation in CNGB3. Invest Ophthalmol Vis Sci. 2004;45(6):1975-1982. (Pubitemid 38868997)
36. Spaide RF, Curcio CA. Anatomical correlates to the bands seen in the outer retina by optical coherence tomography: literature review and model. Retina. 2011;31(8):1609-1619.
37. Tränkner D, Jägle H, Kohl S, et al. Molecular basis of an inherited form of incomplete achromatopsia. J Neurosci. 2004;24(1):138-147. (Pubitemid 38181679)