Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy

Investigative Ophthalmology and Visual Science

Volumn 55, Issue 3, 2014, Pages 1471-1482

  Duncker, Tobias ^a   Greenberg, Jonathan P ^a   Ramachandran, Rithambara ^b   Hood, Donald C ^a,b   Theodore Smith, R ^a   Hirose, Tatsuo ^c   Woods, Russell L ^c   Tsang, Stephen H ^a   Delori, François C ^c   Sparrow, Janet R ^a  

^a Edward S Harkness Eye Institute   (United States)

^b Department of Psychology Columbia University ^*  (United States)

^c SCHEPENS EYE RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LIPOFUSCIN;

ADOLESCENT; ADULT; ARTICLE; AUTOFLUORESCENCE IMAGING; CHILD; CLINICAL ARTICLE; CONFOCAL SCANNING LASER OPHTHALMOSCOPE; CONTROLLED STUDY; EYE FUNDUS; FEMALE; HUMAN; MALE; MULTIMODAL IMAGING; NEAR INFRARED REFLECTANCE SPECTROSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PIGMENT EPITHELIUM; PRIORITY JOURNAL; QUANTITATIVE FUNDUS AUTOFLUORESCENCE; RETINA BIPOLAR GANGLION CELL; RETINA MACULA VITELLIFORM DEGENERATION; RETINAL NERVE FIBER LAYER THICKNESS; RETINAL THICKNESS; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; SPECTROFLUOROMETRY;

BEST VITELLIFORM MACULAR DYSTROPHY; BESTROPHIN; LIPOFUSCIN; OPTICAL COHERENCE TOMOGRAPHY; QUANTITATIVE FUNDUS AUTOFLUORESCENCE; RETINA; RETINAL PIGMENT EPITHELIUM; SCANNING LASER OPHTHALMOSCOPE;

ADOLESCENT; ADULT; CHILD; DIAGNOSIS, DIFFERENTIAL; FEMALE; FLUORESCEIN ANGIOGRAPHY; FUNDUS OCULI; HUMANS; LIPOFUSCIN; MALE; MIDDLE AGED; OPHTHALMOSCOPY; RETINAL PIGMENT EPITHELIUM; TOMOGRAPHY, OPTICAL COHERENCE; VITELLIFORM MACULAR DYSTROPHY; YOUNG ADULT;

EID: 84896370392     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.13-13834     Document Type: Article

References (65)

1. Petrukhin K, Koisti MJ, Bakall B, et al. Identification of the gene responsible for Best macular dystrophy. Nat Genet. 1998; 19:241-247.
2. 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;97:12758-12763.
3. Boon CJ, Klevering BJ, Leroy BP, Hoyng CB, Keunen JE, den Hollander AI. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res. 2009;28: 187-205.
4. Boon CJ, Klevering BJ, den Hollander AI, et al. Clinical and genetic heterogeneity in multifocal vitelliform dystrophy. Arch Ophthalmol. 2007;125:1100-1106.
5. 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;123:1588-1594.
6. Spaide RF, Noble K, Morgan A, Freund KB. Vitelliform macular dystrophy. Ophthalmol. 2006;113:1392-1400.
7. Renner AB, Tillack H, Kraus H, et al. Late onset is common in best macular dystrophy associated with VMD2 gene mutations. Ophthalmology. 2005;112:586-592.
8. Deutman AF. Electro-oculography in families with vitelliform dystrophy of the fovea. Detection of the carrier state. Arch Ophthalmol. 1969;81:305-316.
9. Gallemore RP, Hughes BA, Miller SS. Light-Induced Responses of the Retinal Pigment Epithelium. New York City: Oxford University Press; 1998.
10. Ferrara D, Costa R, Tsang S, Calucci D, Jorge R, Freund K. Multimodal fundus imaging in Best vitelliform macular dystrophy. Graefes Arch Clin Exp Ophthalmol. 2010;248: 1377-1386.
11. Querques G, Regenbogen M, Quijano C, Delphin N, Soubrane G, Souied EH. High-definition optical coherence tomography features in vitelliform macular dystrophy. Am J Ophthalmol. 2008;146:501-507.
12. Spaide RF, Curcio CA. Anatomical correlates to the bands seen in the outer retina by optical coherence tomography. Literature review and model. Retina. 2011;31:1609-1619.
13. Srinivasan VJ, Monson BK, Wojtkowski M, et al. Characterization of outer retinal morphology with high-speed, ultrahigh-resolution optical coherence tomography. Invest Ophthalmol Vis Sci. 2008;49:1571-1579.
14. 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: 4678-4684.
15. Frangieh GT, Green R, Fine SL. A histopatholgic study of Best's macular dystrophy. Arch Ophthalmol. 1982;100:1115-1121.
16. Weingeist TA, Kobrin JL, Watzke RC. Histopathology of Best's macular dystrophy. Arch Ophthalmol. 1982;100:1108-1114.
17. O'Gorman S, Flaherty WA, Fishman GA, Berson EL. Histopathological findings in Best's vitelliform macular dystrophy. Arch Ophthalmol. 1988;106:1261-1268.
18. Zhang Q, Small KW, Grossniklaus HE. Clinicopathologic findings in Best vitelliform macular dystrophy. Graefes Arch Clin Exp Ophthalmol. 2011;249:745-751.
19. 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;85:34-43.
20. Vedantham V, Ramasamy K. Optical coherence tomography in Best's disease: an observational case report. Am J Ophthalmol. 2005;139:351-353.
21. Singh R, Shen W, Kuai D, et al. iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degeneration. Hum Mol Genet. 2013;22:593-607.
22. Mullins RF, Kuehn MH, Faidley EA, Syed NS, Stone EM. Differential macular and peripheral expression of bestrophin in human eyes and its implication for Best disease. Invest Ophthalmol Vis Sci. 2007;48:3372-3380.
23. Delori FC, Dorey CK, Staurenghi G, Arend O, Goger DG, Weiter JJ. In vivo fluorescence of the ocular fundus exhibits retinal pigment epithelium lipofuscin characteristics. Invest Ophthalmol Vis Sci. 1995;36:718-729.
24. von Ruckmann A, Fitzke FW, Bird AC. In vivo fundus autofluorescence in macular dystrophies. Arch Ophthalmol. 1997;115:609-615.
25. Lois N, Halfyard AS, Bird AC, Fitzke FW. Quantitative evaluation of fundus autofluorescence imaged "in vivo" in eyes with retinal disease. Br J Ophthalmol. 2000;84:741-745.
26. Preising M. Fundus autofluorescence in Best disease. In: Lois N, Forrester JV, eds. Fundus Autofluorescence. Philadelphia, PA: Lippincott Williams and Wilkins; 2009:197-205.
27. Delori F, Greenberg JP, Woods RL, et al. Quantitative measurements of autofluorescence with the scanning laser ophthalmoscope. Invest Ophthalmol Vis Sci. 2011;52:9379-9390.
28. Marmor MF, Brigell MG, McCulloch DL, Westall CA, Bach M. ISCEV standard for clinical electro-oculography (2010 update). Doc Ophthalmol. 2011;122:1-7.
29. Gass JDM. Stereoscopic Atlas of Macular Disease: Diagnosis and Treatment. 4th ed. St. Louis: Mosby; 1997.
30. Greenberg JP, Duncker T, Woods RL, Smith RT, Sparrow JR, Delori FC. Quantitative fundus autofluorescence in healthy eyes. Invest Ophthalmol Vis Sci. 2013;54:5684-5693.
31. Chen J, Tian J, Lee N, Zheng J, Smith RT, Laine AF. A partial intensity invariant feature descriptor for multimodal retinal image registration. IEEE Trans Biomed Eng. 2010;57:1707-1718.
32. van de Kraats J, van Norren D. Optical density of the aging human ocular media in the visible and the UV. J Opt Soc Am A Opt Image Sci Vis. 2007;24:1842-1857.
33. Delori FC, Goger DG, Dorey CK. Age-related accumulation and spatial distribution of lipofuscin in RPE of normal subjects. Invest Ophthalmol Vis Sci. 2001;42:1855-1866.
34. Bland JM, Altman DG. Statistical methods for assessing agreement between two methods of clinical measurement. Lancet. 1986;1:307-310.
35. Hood DC, Lin CE, Lazow MA, Locke KG, Zhang X, Birch DG. Thickness of receptor and post-receptor retinal layers in patients with retinitis pigmentosa measured with frequencydomain optical coherence tomography. Invest Ophthalmol Vis Sci. 2009;50:2328-2336.
36. Hood DC, Cho J, Raza AS, Dale EA, Wang M. Reliability of a computer-aided manual procedure for segmenting optical coherence tomography scans. Optom Vis Sci. 2011;88:113-123.
37. Borman AD, Davidson AE, O'Sullivan J, et al. Childhood-onset autosomal recessive bestrophinopathy. Arch Ophthalmol. 2011;129:1088-1093.
38. Delori FC, Staurenghi G, Arend O, Dorey CK, Goger DG, Weiter JJ. In vivo measurement of lipofuscin in Stargardt's disease-Fundus flavimaculatus. Invest Ophthalmol Vis Sci. 1995;36:2327-2331.
39. Arend O, Weiter JJ, Goger DG, Delori FC. In vivo fundus fluorescence measurements in patients with age related macular degeneration [in German]. Ophthalmologe. 1995; 92:647-653.
40. Abramoff MD, Mullins RF, Lee K, et al. Human photoreceptor outer segments shorten during light adaptation. Invest Ophthalmol Vis Sci. 2013;54:3721-3728.
41. Glybina IV, Frank RN. Localization of multifocal electroretinogram abnormalities to the lesion site: findings in a family with Best disease. Arch Ophthalmol. 2006;124:1593-1600.
42. Kay DB, Land ME, Cooper RF, et al. Outer retinal structure in best vitelliform macular dystrophy. JAMA Ophthalmol. 2013; 131:1207-1215.
43. 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: 357-364.
44. Sadigh S, Cideciyan AV, Sumaroka A, et al. Abnormal thickening as well as thinning of the photoreceptor layer in intermediate age-related macular degeneration. Invest Ophthalmol Vis Sci. 2013;54:1603-1612.
45. Guziewicz KE, Zangerl B, Lindauer SJ, et al. Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. Invest Ophthalmol Vis Sci. 2007;48: 1959-1967.
46. Zangerl B, Wickström K, Slavik J, et al. Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3). Mol Vis. 2010; 16:2791-2804.
47. Barro-Soria R, Aldehni F, Almaca J, Witzgall R, Schreiber R, Kunzelmann K. ER-localized bestrophin 1 activates Ca2{thorn}dependent ion channels TMEM16A and SK4 possibly by acting as a counterion channel. Pflugers Arch. 2010;459:485-497.
48. Gomez NM, Tamm ER, Straubeta O. Role of bestrophin-1 in store-operated calcium entry in retinal pigment epithelium. Pflugers Arch. 2013;465:481-495.
49. Neussert R, Muller C, Milenkovic VM, Strauss O. The presence of bestrophin-1 modulates the Ca2{thorn} recruitment from Ca2{thorn} stores in the ER. Pflugers Arch. 2010;460:163-175.
50. 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;99:4008-4013.
51. Yu K, Qu Z, Cui Y, Hartzell HC. Chloride channel activity of bestrophin mutants associated with mild or late-onset macular degeneration. Invest Ophthalmol Vis Sci. 2007;48: 4694-4705.
52. Hartzell HC, Qu Z, Yu K, Xiao Q, Chien LT. Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies. Physiol Rev. 2008;88:639-672.
53. Zhang Y, Stanton JB, Wu J, et al. Suppression of Ca2{thorn}signaling in a mouse model of Best disease. Hum Mol Genet. 2010;19: 1108-1118.
54. Marmorstein LY, Wu J, McLaughlin P, et al. The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1). J Gen Physiol. 2006;127:577-589.
55. Qu Z, Hartzell HC. Bestrophin Cl- channels are highly permeable to HCO3-. Am J Physiol Cell Physiol. 2008;294: C1371-C1377.
56. Xiao Q, Hartzell HC, Yu K. Bestrophins and retinopathies. Pflugers Arch. 2010;460:559-569.
57. Rosenthal R, Bakall B, Kinnick T, et al. Expression of bestrophin-1, the product of the VMD2 gene, modulates voltage-dependent Ca2{thorn}channels in retinal pigment epithelial cells. FASEB J. 2006;20:178-180.
58. Fischmeister R, Hartzell HC. Volume sensitivity of the bestrophin family of chloride channels. J Physiol. 2005;562: 477-491.
59. Adijanto J, Banzon T, Jalickee S, Wang NS, Miller SS. CO2- induced ion and fluid transport in human retinal pigment epithelium. J Gen Physiol. 2009;133:603-622.
60. Sparrow JR, Yoon K, Wu Y, Yamamoto K. Interpretations of fundus autofluorescence from studies of the bisretinoids of retina. Invest Ophthalmol Vis Sci. 2010;51:4351-4357.
61. Boon CJ, van den Born LI, Visser L, et al. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. Ophthalmology. 2013;120:809-820.
62. Yardley J, Leroy BP, Hart-Holden N, et al. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci. 2004;45:3683-3689.
63. Low S, Davidson AE, Holder GE, et al. Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study. Mol Vis. 2011;17:2272-2282.
64. Wittström E, Ponjavic V, Bondeson ML, Andréasson S. Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy. Ophthalmic Genet. 2011;32:217-227.
65. Kramer F, White K, Pauleikhoff D, et al. Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. Eur J Hum Genet. 2000;8:286-292.