Choroidal hyperreflective foci in stargardt disease shown by spectral-domain optical coherence tomography imaging: Correlation with disease severity

JAMA Ophthalmology

Volumn 133, Issue 4, 2015, Pages 398-405

  Piri, Niloofar ^a   Nesmith, Brooke L W ^a   Schaal, Shlomit ^a  

^a University of Louisville School of Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BRUCH MEMBRANE; CENTRAL MACULAR THICKNESS; CHILD; CHOROID; CHOROID CAPILLARY LAYER; CHOROIDAL HYPERREFLECTIVE FOCI; CLINICAL ARTICLE; DISEASE DURATION; DISEASE SEVERITY; FEMALE; HUMAN; MALE; MIDDLE AGED; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINAL THICKNESS; RETROSPECTIVE STUDY; SCHOOL CHILD; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; STARGARDT DISEASE; VISUAL ACUITY; CHOROID DISEASES; CLASSIFICATION; FLUORESCENCE ANGIOGRAPHY; MACULAR DEGENERATION; OBSERVER VARIATION; OPTICAL COHERENCE TOMOGRAPHY; PATHOLOGY; PHYSIOLOGY; RETINA MACULA LUTEA; SEVERITY OF ILLNESS INDEX;

ADOLESCENT; ADULT; BRUCH MEMBRANE; CHILD; CHOROID DISEASES; FEMALE; FLUORESCEIN ANGIOGRAPHY; HUMANS; MACULA LUTEA; MACULAR DEGENERATION; MALE; MIDDLE AGED; OBSERVER VARIATION; RETINAL PIGMENT EPITHELIUM; RETROSPECTIVE STUDIES; SEVERITY OF ILLNESS INDEX; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY;

EID: 84928255152     PISSN: 21686165     EISSN: 21686173     Source Type: Journal    
DOI: 10.1001/jamaophthalmol.2014.5604     Document Type: Article

References (58)

1. Haji Abdollahi S, Hirose T. Stargardt-fundus flavimaculatus: recent advancements and treatment. Semin Ophthalmol. 2013;28(5-6):372-376.
2. Westeneng-van Haaften SC, Boon CJ, Cremers FP, Hoefsloot LH, den Hollander AI, Hoyng CB. Clinical and genetic characteristics of late-onset Stargardt's disease. Ophthalmology. 2012;119(6):1199-1210.
3. Eagle RC Jr, Lucier AC, Bernardino VB Jr, Yanoff M. Retinal pigment epithelial abnormalities in fundus flavimaculatus: a light and electron microscopic study. Ophthalmology. 1980;87(12):1189-1200.
4. Lois N, Holder GE, Bunce C, Fitzke FW, Bird AC. Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus. Arch Ophthalmol. 2001;119(3):359-369.
5. Klien BA, Krill AE. Fundus flavimaculatus: clinical, functional and histopathologic observations. Am J Ophthalmol. 1967;64(1):3-23.
6. Huang D, Swanson EA, Lin CP, et al. Optical coherence tomography. Science. 1991;254(5035):1178-1181.
7. Baumal CR. Clinical applications of optical coherence tomography. Curr Opin Ophthalmol. 1999;10(3):182-188.
8. Querques G, Leveziel N, Benhamou N, Voigt M, Soubrane G, Souied EH. Analysis of retinal flecks in fundus flavimaculatus using optical coherence tomography. Br J Ophthalmol. 2006;90(9):1157-1162.
9. Voigt M, Querques G, Atmani K, et al. Analysis of retinal flecks in fundus flavimaculatus using high-definition spectral-domain optical coherence tomography. Am J Ophthalmol. 2010;150(3):330-337.
10. Michalewska Z, Michalewski J, Nawrocki J. New OCT technologies take imaging deeper and wider. Retin Physician. 2013;10(3):42-48.
11. Staurenghi G, Sadda S, Chakravarthy U, Spaide RF; International Nomenclature for Optical Coherence Tomography (IN•OCT) Panel. Proposed lexicon for anatomic landmarks in normal posterior segment spectral-domain optical coherence tomography: the IN•OCT consensus. Ophthalmology. 2014;121(8):1572-1578.
12. Gomes NL, Greenstein VC, Carlson JN, et al. A comparison of fundus autofluorescence and retinal structure in patients with Stargardt disease. Invest Ophthalmol Vis Sci. 2009;50(8):3953-3959.
13. Verdina T, Tsang SH, Greenstein VC, et al. Functional analysis of retinal flecks in Stargardt disease [published online July 30, 2012]. J Clin Exp Ophthalmol. doi:10.4172/2155-9570.1000233.
14. Nakao T, Tsujikawa M, Sawa M, Gomi F, Nishida K. Foveal sparing in patients with Japanese Stargardt's disease and good visual acuity. Jpn J Ophthalmol. 2012;56(6):584-588.
15. Burke TR, Yzer S, Zernant J, Smith RT, Tsang SH, Allikmets R. Abnormality in the external limiting membrane in early Stargardt disease. Ophthalmic Genet. 2013;34(1-2):75-77.
16. Fujinami K, Sergouniotis PI, Davidson AE, et al. The clinical effect of homozygous ABCA4 alleles in 18 patients. Ophthalmology. 2013;120(11):2324-2331.
17. Lee W, Nõupuu K, Oll M, et al. The external limiting membrane in early-onset Stargardt disease. Invest Ophthalmol Vis Sci. 2014;55(10):6139-6149.
18. Sisk RA, Leng T. Multimodal imaging and multifocal electroretinography demonstrate autosomal recessive Stargardt disease may present like occult macular dystrophy. Retina. 2014;34(8):1567-1575.
19. Salvatore S, Fishman GA, McAnany JJ, Genead MA. Association of dark-adapted visual function with retinal structural changes in patients with Stargardt disease. Retina. 2014;34(5):989-995.
20. Lim JI, Tan O, Fawzi AA, Hopkins JJ, Gil-Flamer JH, Huang D. A pilot study of Fourier-domain optical coherence tomography of retinal dystrophy patients. Am J Ophthalmol. 2008;146(3):417-426.
21. Aleman TS, Soumittra N, Cideciyan AV, et al. CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. Invest Ophthalmol Vis Sci. 2009;50(12):5944-5954.
22. Wang NK, Chou CL, Lima LH, et al. Fundus autofluorescence in cone dystrophy. Doc Ophthalmol. 2009;119(2):141-144.
23. 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.
24. Audo I, Friedrich A, Mohand-Saïd S, et al. An unusual retinal phenotype associated with a novel mutation in RHO. Arch Ophthalmol. 2010;128(8):1036-1045.
25. Burstedt MS, Golovleva I. Central retinal findings in Bothnia dystrophy caused by RLBP1 sequence variation. Arch Ophthalmol. 2010;128(8):989-995.
26. Michaelides M, Gaillard MC, Escher P, et al. The PROM1 mutation p. R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. Invest Ophthalmol Vis Sci. 2010;51(9):4771-4780.
27. Littink KW, Koenekoop RK, van den Born LI, et al. Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Invest Ophthalmol Vis Sci. 2010;51(11):5943-5951.
28. Mackay DS, Henderson RH, Sergouniotis PI, et al. Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. Mol Vis. 2010;16:369-377.
29. Park SJ, Woo SJ, Park KH, Hwang JM, Chung H. Morphologic photoreceptor abnormality in occult macular dystrophy on spectral-domain optical coherence tomography. Invest Ophthalmol Vis Sci. 2010;51(7):3673-3679.
30. Yeoh J, Rahman W, Chen F, et al. Choroidal imaging in inherited retinal disease using the technique of enhanced depth imaging optical coherence tomography. Graefes Arch Clin Exp Ophthalmol. 2010;248(12):1719-1728.
31. Ferrara DC, Costa RA, Tsang S, Calucci D, Jorge R, Freund KB. Multimodal fundus imaging in Best vitelliform macular dystrophy. Graefes Arch Clin Exp Ophthalmol. 2010;248(10):1377-1386.
32. Duncan JL, Talcott KE, Ratnam K, et al. Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene. Invest Ophthalmol Vis Sci. 2011;52(3):1557-1566.
33. Kitaguchi Y, Kusaka S, Yamaguchi T, Mihashi T, Fujikado T. Detection of photoreceptor disruption by adaptive optics fundus imaging and Fourier-domain optical coherence tomography in eyes with occult macular dystrophy. Clin Ophthalmol. 2011;5:345-351.
34. Lacassagne E, Dhuez A, Rigaudière F, et al. Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy. Mol Vis. 2011;17:309-322.
35. Henderson RH, Mackay DS, Li Z, et al. Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1. Br J Ophthalmol. 2011;95(6):811-817.
36. Zhao L, Grob S, Corey R, et al. A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy. Eye (Lond). 2012;26(6):866-871.
37. Sergouniotis PI, Holder GE, Robson AG, Michaelides M, Webster AR, Moore AT. High-resolution optical coherence tomography imaging in KCNV2 retinopathy. Br J Ophthalmol. 2012;96(2):213-217.
38. Preising MN, Hausotter-Will N, Solbach MC, Friedburg C, Rüschendorf F, Lorenz B. Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy. Invest Ophthalmol Vis Sci. 2012;53(7):3463-3472.
39. Dev Borman A, Ocaka LA, Mackay DS, et al. Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study. Invest Ophthalmol Vis Sci. 2012;53(7):3927-3938.
40. Thiadens AA, Slingerland NW, Florijn RJ, Visser GH, Riemslag FC, Klaver CC. Cone-rod dystrophy can be a manifestation of Danon disease. Graefes Arch Clin Exp Ophthalmol. 2012;250(5):769-774.
41. Adhi M, Duker JS. Optical coherence tomography-current and future applications. Curr Opin Ophthalmol. 2013;24(3):213-221.
42. Esteves F, Dolz-Marco R, Hernández-Martínez P, Díaz-Llopis M, Gallego-Pinazo R. Pattern dystrophy of the macula in a case of Steinert disease. Case Rep Ophthalmol. 2013;4(3):129-133.
43. Zerbib J, Querques G, Massamba N, et al. Reticular pattern dystrophy of the retina: a spectral-domain optical coherence tomography analysis. Am J Ophthalmol. 2013;156(6):1228-1237.
44. Birch DG, Locke KG, Wen Y, Locke KI, Hoffman DR, Hood DC. Spectral-domain optical coherence tomography measures of outer segment layer progression in patients with X-linked retinitis pigmentosa. JAMA Ophthalmol. 2013;131(9):1143-1150.
45. de Laat P, Smeitink JA, Janssen MC, Keunen JE, Boon CJ. Mitochondrial retinal dystrophy associated with the m.3243A>G mutation. Ophthalmology. 2013;120(12):2684-2696.
46. Pach J, Kohl S, Gekeler F, Zobor D. Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family. Mol Vis. 2013;19:1350-1355.
47. Ahn SJ, Cho SI, Ahn J, Park SS, Park KH, Woo SJ. Clinical and genetic characteristics of Korean occult macular dystrophy patients. Invest Ophthalmol Vis Sci. 2013;54(7):4856-4863.
48. Acton JH, Greenberg JP, Greenstein VC, et al. Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa. Exp Eye Res. 2013;113:41-48.
49. Gliem M, Zaeytijd JD, Finger RP, Holz FG, Leroy BP, Charbel Issa P. An update on the ocular phenotype in patients with pseudoxanthoma elasticum. Front Genet. 2013;4:14.
50. Baek J, Lee HK, Kim US. Spectral domain optical coherence tomography findings in bilateral peripheral cone dystrophy. Doc Ophthalmol. 2013;126(3):247-251.
51. Xu H, Ying L, Lin P, Wu J. Optical coherence tomography for multifocal vitelliform macular dystrophy. Optom Vis Sci. 2013;90(1):94-99.
52. Cho SC, Woo SJ, Park KH, Hwang JM. Morphologic characteristics of the outer retina in cone dystrophy on spectral-domain optical coherence tomography. Korean J Ophthalmol. 2013;27(1):19-27.
53. Ba-Abbad R, Sergouniotis PI, Plagnol V, et al. Clinical characteristics of early retinal disease due to CDHR1 mutation. Mol Vis. 2013;19:2250-2259.
54. Zhao X, Ren Y, Zhang X, Chen C, Dong B, Li Y. A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy. Mol Vis. 2013;19:1039-1046.
55. van Huet RA, Estrada-Cuzcano A, Banin E, et al. Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene. Invest Ophthalmol Vis Sci. 2013;54(7):4683-4690.
56. Yzer S, Barbazetto I, Allikmets R, et al. Expanded clinical spectrum of enhanced S-cone syndrome. JAMA Ophthalmol. 2013;131(10):1324-1330.
57. Ritter M, Zotter S, Schmidt WM, et al; Macula Study Group Vienna. Characterization of Stargardt disease using polarization-sensitive optical coherence tomography and fundus autofluorescence imaging. Invest Ophthalmol Vis Sci. 2013;54(9):6416-6425.
58. Chun R, Fishman GA, Collison FT, Stone EM, Zernant J, Allikmets R. The value of retinal imaging with infrared scanning laser ophthalmoscopy in patients with Stargardt disease. Retina. 2014;34(7):1391-1399.