Central areolar choroidal dystrophy (CACD) and age-related macular degeneration (AMD): Differentiating characteristics in multimodal imaging

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 12, 2011, Pages 8908-8918

  Smailhodzic, Dženita ^a   Fleckenstein, Monika ^b   Theelen, Thomas ^a   Boon, Camiel J F ^a   van Huet, Ramon A C ^a   van de Ven, Johannes P H ^a   Den Hollander, Anneke I ^a   Schmitz Valckenberg, Steffen ^b   Hoyng, Carel B ^a   Weber, Bernhard H F ^c   Holz, Frank G ^b   Jeroen Klevering, B ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF BONN   (Germany)

^c UNIVERSITY OF REGENSBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PERIPHERIN; PERIPHERIN 2; UNCLASSIFIED DRUG; INTERMEDIATE FILAMENT PROTEIN; MEMBRANE PROTEIN; NERVE PROTEIN;

ADULT; AGED; ARTICLE; AUTOFLUORESCENCE IMAGING; CENTRAL AREOLAR CHOROIDAL DYSTROPHY; CHOROID DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DRUSEN; EYE FUNDUS; GENE; GENE MUTATION; GENETIC ANALYSIS; GEOGRAPHIC ATROPHY; HUMAN; MALE; PERIPHERIN 2 GENE; PHENOTYPE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; SCANNING LASER OPHTHALMOSCOPY; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; VISUAL PIGMENT; CLINICAL TRIAL; COMPARATIVE STUDY; DIFFERENTIAL DIAGNOSIS; GENETIC SCREENING; GENETICS; HOSPITALIZATION; METHODOLOGY; MIDDLE AGED; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PATHOLOGY; RETINA; RETINA MACULA DEGENERATION;

ADULT; AGED; CHOROID DISEASES; DIAGNOSIS, DIFFERENTIAL; GENETIC TESTING; GEOGRAPHIC ATROPHY; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MACULAR DEGENERATION; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; NERVE TISSUE PROTEINS; OPHTHALMOSCOPY; RETINA; SEVERITY OF ILLNESS INDEX; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 84856028111     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-7926     Document Type: Article

References (62)

1. Ashton N. Central areolar choroidal sclerosis; a histo-pathological study. Br J Ophthalmol. 1953;37:140-147.
2. Hoyng CB, Deutman AF. The development of central areolar choroidal dystrophy. Graefes Arch Clin Exp Ophthalmol. 1996;234: 87-93.
3. Boon CJ, Klevering BJ, Cremers FP, et al. Central areolar choroidal dystrophy. Ophthalmology. 2009;116:771-782.
4. Gamundi MJ, Hernan I, Muntanyola M, et al. High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population. Mol Vis. 2007;13:1031-1037.
5. Hughes AE, Lotery AJ, Silvestri G. Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p. J Med Genet. 1998;35:770-772.
6. Hoyng CB, Heutink P, Testers L, Pinckers A, Deutman AF, Oostra BA. Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene. Am J Ophthalmol. 1996;121:623-629.
7. Kohl S, Christ-Adler M, Apfelstedt-Sylla E, et al. RDS/peripherin gene mutations are frequent causes of central retinal dystrophies. J Med Genet. 1997;34:620-626.
8. Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet. 1993;3:202-207.
9. Reig C, Serra A, Gean E, et al. A point mutation in the RDSperipherin gene in a Spanish family with central areolar choroidal dystrophy. Ophthalmic Genet. 1995;16:39-44.
10. Schatz H. Diagnostic and therapeutic challenges. Retina. 2003;23: 530-535.
11. Trujillo MJ, Bueno J, Osorio A, et al. Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations: mutations in brief no 147 online. Hum Mutat. 1998;12:70.
12. Yanagihashi S, Nakazawa M, Kurotaki J, Sato M, Miyagawa Y, Ohguro H. Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene. Arch Ophthalmol. 2003;121:1458-1461.
13. de Jong PT. Age-related macular degeneration. N Engl J Med. 2006;355:1474-1485.
14. Friedman DS, O'Colmain BJ, Munoz B, et al. Prevalence of agerelated macular degeneration in the United States. Arch Ophthalmol. 2004;122:564-572.
15. Klaver CC, Wolfs RC, Vingerling JR, Hofman A, de Jong PT. Agespecific prevalence and causes of blindness and visual impairment in an older population: the Rotterdam Study. Arch Ophthalmol. 1998;116:653-658.
16. Klein R, Klein BE, Tomany SC, Meuer SM, Huang GH. Ten-year incidence and progression of age-related maculopathy: The Beaver Dam eye study. Ophthalmology. 2002;109:1767-1779.
17. Mitchell P, Smith W, Attebo K, Wang JJ. Prevalence of age-related maculopathy in Australia. The Blue Mountains Eye Study. Ophthalmology. 1995;102:1450-1460.
18. Sunness JS, Gonzalez-Baron J, Applegate CA, et al. Enlargement of atrophy and visual acuity loss in the geographic atrophy form of age-related macular degeneration. Ophthalmology. 1999;106: 1768-1779.
19. Edwards AO, Ritter R III, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and age-related macular degeneration. Science. 2005;308:421-424.
20. Hageman GS, Anderson DH, Johnson LV, et al. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci U S A. 2005;102:7227-7232.
21. Haines JL, Hauser MA, Schmidt S, et al. Complement factor H variant increases the risk of age-related macular degeneration. Science. 2005;308:419-421.
22. Fisher SA, Abecasis GR, Yashar BM, et al. Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet. 2005; 14:2257-2264.
23. Seddon JM, Santangelo SL, Book K, Chong S, Cote J. A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions. Am J Hum Genet. 2003;73:780-790.
24. Weeks DE, Conley YP, Tsai HJ, et al. Age-related maculopathy: an expanded genome-wide scan with evidence of susceptibility loci within the 1q31 and 17q25 regions. Am J Ophthalmol. 2001;132: 682-692.
25. Fagerness JA, Maller JB, Neale BM, Reynolds RC, Daly MJ, Seddon JM. Variation near complement factor I is associated with risk of advanced AMD. Eur J Hum Genet. 2009;17:100-104.
26. Gold B, Merriam JE, Zernant J, et al. Variation in factor B (BF) and complement component 2 (C2) genes is associated with agerelated macular degeneration. Nat Genet. 2006;38:458-462.
27. Maller JB, Fagerness JA, Reynolds RC, Neale BM, Daly MJ, Seddon JM. Variation in complement factor 3 is associated with risk of age-related macular degeneration. Nat Genet. 2007;39:1200-1201.
28. Yates JR, Sepp T, Matharu BK, et al. Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med. 2007; 357:553-561.
29. Baird PN, Richardson A, Islam A, Lim L, Guymer R. Analysis of the RDS/peripherin gene in age-related macular degeneration. Clin Exp Ophthalmol. 2007;35:194-195.
30. Klevering BJ, van DM, van Hogerwou AJ, et al. Central areolar choroidal dystrophy associated with dominantly inherited drusen. Br J Ophthalmol. 2002;86:91-96.
31. Wroblewski JJ, Wells JA, Eckstein A, et al. Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene. Ophthalmology. 1994;101:12-22.
32. Bird AC, Bressler NM, Bressler SB, et al. An international classification and grading system for age-related maculopathy and agerelated macular degeneration. The International ARM Epidemiological Study Group. Surv Ophthalmol. 1995;39:367-374.
33. Holz FG, Bindewald-Wittich A, Fleckenstein M, Dreyhaupt J, Scholl HP, Schmitz-Valckenberg S. Progression of geographic atrophy and impact of fundus autofluorescence patterns in age-related macular degeneration. Am J Ophthalmol. 2007;143:463-472.
34. Helb HM, Charbel Issa P, Fleckenstein M, et al. Clinical evaluation of simultaneous confocal scanning laser ophthalmoscopy imaging combined with high-resolution, spectral-domain optical coherence tomography. Acta Ophthalmol. 2010;88:842-849.
35. Fleckenstein M, Charbel IP, Helb HM, et al. High-resolution spectral domain-OCT imaging in geographic atrophy associated with age-related macular degeneration. Invest Ophthalmol Vis Sci. 2008;49:4137-4144.
36. Pircher M, Gotzinger E, Findl O, et al. Human macula investigated in vivo with polarization-sensitive optical coherence tomography. Invest Ophthalmol Vis Sci. 2006;47:5487-5494.
37. Bindewald A, Bird AC, Dandekar SS, et al. Classification of fundus autofluorescence patterns in early age-related macular disease. Invest Ophthalmol Vis Sci. 2005;46:3309-3314.
38. Arikawa K, Molday LL, Molday RS, Williams DS. Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration. J Cell Biol. 1992;116:659-667.
39. Boon CJ, den Hollander AI, Hoyng CB, Cremers FP, Klevering BJ, Keunen JE. The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. Prog Retin Eye Res. 2008;27: 213-235.
40. Molday RS, Hicks D, Molday L. Peripherin. A rim-specific membrane protein of rod outer segment discs. Invest Ophthalmol Vis Sci. 1987;28:50-61.
41. Farjo R, Fliesler SJ, Naash MI. Effect of Rds abundance on cone outer segment morphogenesis, photoreceptor gene expression, and outer limiting membrane integrity. J Comp Neurol. 2007;504: 619-630.
42. Davies S, Elliott MH, Floor E, et al. Photocytotoxicity of lipofuscin in human retinal pigment epithelial cells. Free Radic Biol Med. 2001;31:256-265.
43. Papermaster DS. The birth and death of photoreceptors: The Friedenwald Lecture. Invest Ophthalmol Vis Sci. 2002;43:1300-1309.
44. Usukura J, Bok D. Changes in the localization and content of opsin during retinal development in the rds mutant mouse: immunocytochemistry and immunoassay. Exp Eye Res. 1987;45:501-515.
45. Shamsi FA, Boulton M. Inhibition of RPE lysosomal and antioxidant activity by the age pigment lipofuscin. Invest Ophthalmol Vis Sci. 2001;42:3041-3046.
46. Sparrow JR, Boulton M. RPE lipofuscin and its role in retinal pathobiology. Exp Eye Res. 2005;80:595-606.
47. Downes SM, Fitzke FW, Holder GE, et al. Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families. Arch Ophthalmol. 1999;117(10):1373-1383.
48. von Rückmann RA, Fitzke FW, Bird AC. Distribution of pigment epithelium autofluorescence in retinal disease state recorded in vivo and its change over time. Graefes Arch Clin Exp Ophthalmol. 1999;237:1-9.
49. 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;52:1557-1566.
50. Zweifel SA, Engelbert M, Laud K, Margolis R, Spaide RF, Freund KB. Outer retinal tubulation: a novel optical coherence tomography finding. Arch Ophthalmol. 2009;127:1596-1602.
51. Fleckenstein M, Schmitz-Valckenberg S, Martens C, et al. Fundus autofluorescence and spectral-domain optical coherence tomography characteristics in a rapidly progressing form of geographic atrophy. Invest Ophthalmol Vis Sci. 2011;52:3761-3766.
52. Loffler KU, Lee WR. Basal linear deposit in the human macula. Graefes Arch Clin Exp Ophthalmol. 1986;224:493-501.
53. Marshall GE, Konstas AG, Reid GG, Edwards JG, Lee WR. Type IV collagen and laminin in Bruch's membrane and basal linear deposit in the human macula. Br J Ophthalmol. 1992;76:607-614.
54. van der Schaft TL, Mooy CM, de Bruijn WC, de Jong PT. Early stages of age-related macular degeneration: an immunofluorescence and electron microscopy study. Br J Ophthalmol. 1993;77:657-661.
55. Curcio CA, Millican CL. Basal linear deposit and large drusen are specific for early age-related maculopathy. Arch Ophthalmol. 1999;117:329-339.
56. Green WR, Enger C. Age-related macular degeneration histopathologic studies: the 1992 Lorenz E. Zimmerman Lecture. 1992. Retina. 2005;25(5 suppl):1519-1535.
57. Sarks SH. Ageing and degeneration in the macular region: a clinicopathological study. Br J Ophthalmol. 1976;60:324-341.
58. Spraul CW, Lang GE, Grossniklaus HE, Lang GK. Histologic and morphometric analysis of the choroid, Bruch's membrane, and retinal pigment epithelium in postmortem eyes with age-related macular degeneration and histologic examination of surgically excised choroidal neovascular membranes. Surv Ophthalmol. 1999;44(suppl 1):S10-S32.
59. Vingerling JR, Klaver CC, Hofman A, De Jong PT. Epidemiology of age-related maculopathy. Epidemiol Rev. 1995;17:347-360.
60. A randomized, placebo-controlled, clinical trial of high-dose supplementation with vitamins C and E, beta carotene, and zinc for age-related macular degeneration and vision loss: AREDS report no. 8. Arch Ophthalmol. 2001;119:1417-1436.
61. Charbel IP, Chong NV, Scholl HP. The significance of the complement system for the pathogenesis of age-related macular degeneration: current evidence and translation into clinical application. Graefes Arch Clin Exp Ophthalmol. 2011;249:163-174.
62. Rohrer B, Long Q, Coughlin B, et al. A targeted inhibitor of the alternative complement pathway reduces angiogenesis in a mouse model of age-related macular degeneration 19. Invest Ophthalmol Vis Sci. 2009;50:3056-3064.