Outer retinal structure in best vitelliform macular dystrophy

JAMA Ophthalmology

Volumn 131, Issue 9, 2013, Pages 1207-1215

  Kay, David B ^a   Land, Megan E ^a   Cooper, Robert F ^c   Dubis, Adam M ^b   Godara, Pooja ^a   Dubra, Alfredo ^a,b,c   Carroll, Joseph ^a,b,c   Stepien, Kimberly E ^a  

^a EYE INSTITUTE   (United States)

^b MEDICAL COLLEGE OF WISCONSIN   (United States)

^c Medical College of Wisconsin and Marquette University   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BEST1 PROTEIN; CELL PROTEIN; TROPICAMIDE; UNCLASSIFIED DRUG;

ACCOMMODATION; ADOLESCENT; ADULT; ANATOMICAL VARIATION; ARTICLE; CASE REPORT; CASE STUDY; CONTROLLED STUDY; DEMOGRAPHY; EYE AXIS LENGTH; FEMALE; FIBER; GENE DISRUPTION; GENE MUTATION; HENLE FIBER; HUMAN; IMAGING SYSTEM; MALE; MEDICAL SCHOOL; OBSERVATIONAL STUDY; OPHTHALMOSCOPE; OPTICS; PHOTORECEPTOR; PHOTORECEPTOR OUTER SEGMENT; PRIORITY JOURNAL; PROSPECTIVE STUDY; RETINA; RETINA MACULA LUTEA; RETINA MACULA VITELLIFORM DEGENERATION; RETINA ROD OUTER SEGMENT; RETINAL THICKNESS; SCANNING LASER OPHTHALMOSCOPY; SIGNAL NOISE RATIO; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; UNITED STATES; VISUAL ACUITY;

ADOLESCENT; AXIAL LENGTH, EYE; CHLORIDE CHANNELS; EYE PROTEINS; FEMALE; HUMANS; MALE; MIDDLE AGED; OPHTHALMOSCOPY; PEDIGREE; PROSPECTIVE STUDIES; RETINAL PHOTORECEPTOR CELL OUTER SEGMENT; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VITELLIFORM MACULAR DYSTROPHY;

EID: 84878497434     PISSN: 21686165     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaophthalmol.2013.387     Document Type: Article

References (48)

1. Blodi CF, Stone EM. Best's vitelliform dystrophy. Ophthalmic Paediatr Genet. 1990;11(1):49-59.
2. Gass J. Best's disease. In: Gass J. Stereoscopic Atlas of Macular Diseases. Diagnosis and Treatment. Vol 1. 4th ed. St Louis, MO: Mosby; 1997:304-311.
3. Cross HE, Bard L. Electro-oculography in Best's macular dystrophy. Am J Ophthalmol. 1974;77(1):46-50.
4. Marquardt A, Stöhr H, Passmore LA, Krämer F, Rivera A, Weber BH. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). Hum Mol Genet. 1998;7(9):1517-1525.
5. Petrukhin K, Koisti MJ, Bakall B, et al. Identification of the gene responsible for Best macular dystrophy. Nat Genet. 1998;19(3):241-247.
6. Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nat Genet. 1992;1(4):246-250.
7. Marmorstein AD, Marmorstein LY, Rayborn M, Wang X, Hollyfield JG, Petrukhin K. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. Proc Natl Acad Sci U S A. 2000;97(23):12758-12763.
8. Sun H, Tsunenari T, Yau KW, Nathans J. The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc Natl Acad Sci U S A. 2002;99(6):4008-4013.
9. Fishman GA, Baca W, Alexander KR, Derlacki DJ, Glenn AM, Viana M. Visual acuity in patients with best vitelliform macular dystrophy. Ophthalmology. 1993;100(11):1665-1670.
10. Carroll J, Neitz M, Hofer H, Neitz J, Williams DR. Functional photoreceptor loss revealed with adaptive optics: an alternate cause of color blindness. Proc Natl Acad Sci U S A. 2004;101(22):8461-8466.
11. Geller AM, Sieving PA. Assessment of foveal cone photoreceptors in Stargardt's macular dystrophy using a small dot detection task. Vision Res. 1993;33(11):1509-1524.
12. Frangieh GT, Green WR, Fine SL. A histopathologic study of Best's macular dystrophy. Arch Ophthalmol. 1982;100(7):1115-1121.
13. Mullins RF, Oh KT, Heffron E, Hageman GS, Stone EM. Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation. Arch Ophthalmol. 2005;123(11):1588-1594.
14. O'Gorman S, Flaherty WA, Fishman GA, Berson EL. Histopathologic findings in Best's vitelliform macular dystrophy. Arch Ophthalmol. 1988;106(9):1261-1268.
15. Weingeist TA, Kobrin JL, Watzke RC. Histopathology of Best's macular dystrophy. Arch Ophthalmol. 1982;100(7):1108-1114.
16. Bakall B, Radu RA, Stanton JB, et al. Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2). Exp Eye Res. 2007;85(1):34-43.
17. Mullins RF, Kuehn MH, Faidley EA, Syed NA, Stone EM. Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease. Invest Ophthalmol Vis Sci. 2007;48(7):3372-3380.
18. Zhang Y, Stanton JB, Wu J, et al. Suppression of Ca2+ signaling in a mouse model of Best disease. Hum Mol Genet. 2010;19(6):1108-1118.
19. Chacon-Camacho OF, Camarillo-Blancarte L, Zenteno JC. OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations. Ophthalmic Genet. 2011;32(1):24-30.
20. 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.
21. Kay CN, Abramoff MD, Mullins RF, et al. Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy. Arch Ophthalmol. 2012;130(3):357-364.
22. Schatz P, Bitner H, Sander B, et al. Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1. Invest Ophthalmol Vis Sci. 2010;51(9):4754-4765.
23. Spaide RF, Noble K, Morgan A, Freund KB. Vitelliform macular dystrophy. Ophthalmology. 2006;113(8):1392-1400.
24. Pianta MJ, Aleman TS, Cideciyan AV, et al. In vivo micropathology of Best macular dystrophy with optical coherence tomography. Exp Eye Res. 2003;76(2):203-211.
25. Querques G, Regenbogen M, Soubrane G, Souied EH. High-resolution spectral domain optical coherence tomography findings in multifocal vitelliform macular dystrophy. Surv Ophthalmol. 2009;54(2):311-316.
26. Querques G, Zerbib J, Santacroce R, et al. The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene. Invest Ophthalmol Vis Sci. 2011;52(7):4678-4684.
27. Rha J, Dubis AM, Wagner-Schuman M, et al. Spectral domain optical coherence tomography and adaptive optics: imaging photoreceptor layer morphology to interpret preclinical phenotypes. Adv Exp Med Biol. 2010;664:309-316.
28. Stepien KE, Han DP, Schell J, Godara P, Rha J, Carroll J. Spectral-domain optical coherence tomography and adaptive optics may detect hydroxychloroquine retinal toxicity before symptomatic vision loss. Trans Am Ophthalmol Soc. 2009;107:28-33.
29. Stepien KE, Martinez WM, Dubis AM, Cooper RF, Dubra A, Carroll J. Subclinical photoreceptor disruption in response to severe head trauma. Arch Ophthalmol. 2012;130(3):400-402.
30. Dubra A, Sulai Y, Norris JL, et al. Noninvasive imaging of the human rod photoreceptor mosaic using a confocal adaptive optics scanning ophthalmoscope. Biomed Opt Express. 2011;2(7):1864-1876.
31. Rossi EA, Chung M, Dubra A, Hunter JJ, Merigan WH, Williams DR. Imaging retinal mosaics in the living eye. Eye (Lond). 2011;25(3):301-308.
32. Caldwell GM, Kakuk LE, Griesinger IB, et al. Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. Genomics. 1999;58(1):98-101.
33. Anastasakis A, McAnany JJ, Fishman GA, Seiple WH. Clinical value, normative retinal sensitivity values, and intrasession repeatability using a combined spectral domain optical coherence tomography/scanning laser ophthalmoscope microperimeter. Eye (Lond). 2011;25(2):245-251.
34. Tanna H, Dubis AM, Ayub N, et al. Retinal imaging using commercial broadband optical coherence tomography. Br J Ophthalmol. 2010;94(3):372-376.
35. Huang Y, Cideciyan AV, Papastergiou GI, et al. Relation of optical coherence tomography to microanatomy in normal and rd chickens. Invest Ophthalmol Vis Sci. 1998;39(12):2405-2416.
36. McAllister JT, Dubis AM, Tait DM, et al. Arrested development: high-resolution imaging of foveal morphology in albinism. Vision Res. 2010;50(8):810-817.
37. 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.
38. Dubra A, Sulai Y. Reflective afocal broadband adaptive optics scanning ophthalmoscope. Biomed Opt Express. 2011;2(6):1757-1768.
39. Dubra A, Harvey Z. Registration of 2D images from fast scanning ophthalmic instruments. In: Fischer B, Dawant BM, Lorenz C, eds. Biomedical Image Registration. Vol 6204. Heidelberg, Germany: Springer; 2010:60-71.
40. Garrioch R, Langlo C, Dubis AM, Cooper RF, Dubra A, Carroll J. Repeatability of in vivo parafoveal cone density and spacing measurements. Optom Vis Sci. 2012;89(5):632-643.
41. Carroll J, Baraas RC, Wagner-Schuman M, et al. Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin. Proc Natl Acad Sci U S A. 2009;106(49):20948-20953.
42. Lujan BJ, Bayabo J K T, Croskrey J, et al. Interpretation of SDOCT photoreceptor bands sometimes depends on how you look at them [abstract]. ARVO Meeting Abstracts. 2012;53:3169.
43. Hogan MJ, Alvarado J, Weddell JE. Histology of the Human Eye. Philadelphia, PA: Saunders; 1971.
44. Makous W, Carroll J, Wolfing JI, Lin J, Christie N, Williams DR. Retinal microscotomas revealed with adaptive-optics microflashes. Invest Ophthalmol Vis Sci. 2006;47(9):4160-4167.
45. Tuten WS, Tiruveedhula P, Roorda A. Adaptive optics scanning laser ophthalmoscope-based microperimetry. Optom Vis Sci. 2012;89(5):563-574.
46. 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.
47. 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.
48. Duncan JL, Sundquist SM, Solovyev A, et al. Cone structure in patients with BEST1 mutations. ARVO Meeting Abstracts. 2010;51(5):4328.