Analysis of candidate genes for macular telangiectasia type 2

Molecular Vision

Volumn 16, Issue , 2010, Pages 2718-2726

  Parmalee, Nancy L ^a   Schubert, Carl ^a   Merriam, Joanna E ^a   Allikmets, Kaija ^a   Bird, Alan C ^b   Gillies, Mark C ^c   Peto, Tunde ^b   Figueroa, Maria ^d   Friedlander, Martin ^e   Fruttiger, Marcus ^f   Greenwood, John ^f   Moss, Stephen E ^f   Smith, Lois E H ^g   Toomes, Carmel ^h   Inglehearn, Chris F ^h   Allikmets, Rando ^a,i  

^a Howard Hughes Medical Institute   (United States)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c UNIVERSITY OF SYDNEY   (Australia)

^d EMMES CORPORATION   (United States)

^e SCRIPPS RESEARCH INSTITUTE   (United States)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g BOSTON CHILDREN S HOSPITAL   (United States)

^h ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

ⁱ New York Presbyterian Morgan Stanley Children's Hospital   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALDEHYDE DEHYDROGENASE 3; ALTERNATIVE COMPLEMENT PATHWAY C3 C5 CONVERTASE; ANGIOPOIETIN 1; ANGIOTENSIN 1 RECEPTOR; APELIN; APELIN RECEPTOR; DICKKOPF 1 PROTEIN; FRIZZLED PROTEIN 4; GENE PRODUCT; GLUTATHIONE TRANSFERASE P1; HYPOXIA INDUCIBLE FACTOR 1ALPHA; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5; NORRIN; OXOGLUTARATE RECEPTOR 1; PIGMENT EPITHELIUM DERIVED FACTOR; PROTEIN TYROSINE KINASE; SARCOSPAN; SCAVENGER RECEPTOR B; SOMATOMEDIN BINDING PROTEIN 3; SUCCINATE RECEPTOR 1; THROMBOSPONDIN 1; TRANSFORMING GROWTH FACTOR BETA2; UNCLASSIFIED DRUG; VERY LOW DENSITY LIPOPROTEIN RECEPTOR; VISUAL PIGMENT;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; FAMILY; GENE EXPRESSION; GENE FREQUENCY; GENE FUNCTION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; HUMAN; MACULAR TELANGIECTASIA TYPE 2; MAJOR CLINICAL STUDY; MICROARRAY ANALYSIS; MISSENSE MUTATION; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; RETINA BLOOD VESSEL; RETINA DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; AGED, 80 AND OVER; ANIMALS; BIOLOGICAL TRANSPORT; CHROMOSOME SEGREGATION; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION PROFILING; GENETIC LINKAGE; HUMANS; MACULA LUTEA; MALE; MICE; MIDDLE AGED; NEOVASCULARIZATION, PATHOLOGIC; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; PHENOTYPE; RETINAL PIGMENTS; TELANGIECTASIS;

EID: 78650780092     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (59)

1. Gass JD, Blodi BA. Idiopathic juxtafoveolar retinal telangiectasis. Update of classification and follow-up study. Ophthalmology 1993; 100:1536-46. [PMID: 8414413]
2. Yannuzzi LA, Bardal AM, Freund KB, Chen KJ, Eandi CM, Blodi B. Idiopathic macular telangiectasia. Arch Ophthalmol 2006; 124:450-60. [PMID: 16606869]
3. Charbel Issa P, Finger RP, Helb HM, Holz FG, Scholl HP. A new diagnostic approach in patients with type 2 macular telangiectasia: confocal reflectance imaging. Acta Ophthalmol (Copenh) 2008; 86:464-5.
4. Charbel Issa P, Berendschot TT, Staurenghi G, Holz FG, Scholl HP. Confocal blue reflectance imaging in type 2 idiopathic macular telangiectasia. Invest Ophthalmol Vis Sci 2008; 49:1172-7. [PMID: 18326746]
5. Charbel Issa P, van der Veen RL, Stijfs A, Holz FG, Scholl HP, Berendschot TT. Quantification of reduced macular pigment optical density in the central retina in macular telangiectasia type 2. Exp Eye Res 2009; 89:25-31. [PMID: 19233170]
6. Aung KZ, Wickremasinghe SS, Makeyeva G, Robman L, Guymer RH. The prevalence estimates of macular telangiectasia type 2: the Melbourne Collaborative Cohort Study. Retina 2010; 30:473-8. [PMID: 19952995]
7. Chew E, Gillies M, Bird A. Macular telangiectasia: a simplified classification. Arch Ophthalmol 2006; 124:573-4. [PMID: 16606887]
8. Charbel Issa P, Holz FG, Scholl HP. Metamorphopsia in patients with macular telangiectasia type 2. Doc Ophthalmol 2009; 119:133-40. [PMID: 19711108]
9. Finger RP, Charbel Issa P, Fimmers R, Holz FG, Rubin GS, Scholl HP. Reading performance is reduced by parafoveal scotomas in patients with macular telangiectasia type 2. Invest Ophthalmol Vis Sci 2009; 50:1366-70. [PMID: 18997085]
10. Charbel Issa P, Scholl HP, Gaudric A, Massin P, Kreiger AE, Schwartz S, Holz FG. Macular full-thickness and lamellar holes in association with type 2 idiopathic macular telangiectasia. Eye (Lond) 2009; 23:435-41. [PMID: 18259211]
11. Charbel Issa P, Helb HM, Rohrschneider K, Holz FG, Scholl HP. Microperimetric assessment of patients with type 2 idiopathic macular telangiectasia. Invest Ophthalmol Vis Sci 2007; 48:3788-95. [PMID: 17652753]
12. Hannan SR, Madhusudhana KC, Rennie C, Lotery AJ. Idiopathic juxtafoveolar retinal telangiectasis in monozygotic twins. Br J Ophthalmol 2007; 91:1729-30. [PMID: 18024833]
13. Menchini U, Virgili G, Bandello F, Malara C, Rapizzi E, Lanzetta P. Bilateral juxtafoveolar telangiectasis in monozygotic twins. Am J Ophthalmol 2000; 129:401-3. [PMID: 10704569]
14. Gillies MC, Zhu M, Chew E, Barthelmes D, Hughes E, Ali H, Holz FG, Scholl HP, Charbel Issa P. Familial asymptomatic macular telangiectasia type 2. Ophthalmology 2009; 116:2422-9. [PMID: 19815294]
15. Xu Q, Wang Y, Dabdoub A, Smallwood PM, Williams J, Woods C, Kelley MW, Jiang L, Tasman W, Zhang K, Nathans J. Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Cell 2004; 116:883-95. [PMID: 15035989]
16. Kondo H, Hayashi H, Oshima K, Tahira T, Hayashi K. Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. Br J Ophthalmol 2003; 87:1291-5. [PMID: 14507768]
17. Warden SM, Andreoli CM, Mukai S. The Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease. Semin Ophthalmol 2007; 22:211-7. [PMID: 18097984]
18. Tasman W, Augsburger JJ, Shields JA, Caputo A, Annesley WH Jr. Familial exudative vitreoretinopathy. Trans Am Ophthalmol Soc 1981; 79:211-26. [PMID: 7342402]
19. Chen ZY, Battinelli EM, Fielder A, Bundey S, Sims K, Breakefield XO, Craig IW. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat Genet 1993; 5:180-3. [PMID: 8252044]
20. Clemons TE, Gillies MC, Chew EY, Bird AC, Peto T, Figueroa MJ, Harrington MW, MacTel Research Group. Baseline characteristics of participants in the natural history study of macular telangiectasia (MacTel) MacTel Project Report No. 2. Ophthalmic Epidemiol 2010; 17:66-73. [PMID: 20100102]
21. Hageman GS, Anderson DH, Johnson LV, Hancox LS, Taiber AJ, Hardisty LI, Hageman JL, Stockman HA, Borchardt JD, Gehrs KM, Smith RJ, Silvestri G, Russell SR, Klaver CC, Barbazetto I, Chang S, Yannuzzi LA, Barile GR, Merriam JC, Smith RT, Olsh AK, Bergeron J, Zernant J, Merriam JE, Gold B, Dean M, Allikmets R. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci USA 2005; 102:7227-32. [PMID: 15870199]
22. Gold B, Merriam JE, Zernant J, Hancox LS, Taiber AJ, Gehrs K, Cramer K, Neel J, Bergeron J, Barile GR, Smith RT, Hageman GS, Dean M, Allikmets R. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet 2006; 38:458-62. [PMID: 16518403]
23. Yannuzzi LA, Negrao S, Iida T, Carvalho C, Rodriguez-Coleman H, Slakter J, Freund KB, Sorenson J, Orlock D, Borodoker N. Retinal angiomatous proliferation in agerelated macular degeneration. Retina 2001; 21:416-34. [PMID: 11642370]
24. Rajappa M, Saxena P, Kaur J. Ocular angiogenesis: mechanisms and recent advances in therapy. Adv Clin Chem 2010; 50:103-21. [PMID: 20521443]
25. Heidary G, Vanderveen D, Smith LE. Retinopathy of prematurity: current concepts in molecular pathogenesis. Semin Ophthalmol 2009; 24:77-81. [PMID: 19373690]
26. Bradley J, Ju M, Robinson GS. Combination therapy for the treatment of ocular neovascularization. Angiogenesis 2007; 10:141-8. [PMID: 17372853]
27. Politoa A, Napolitano MC, Bandello F, Chiodini RG. The role of optical coherence tomography (OCT) in the diagnosis and management of retinal angiomatous proliferation (RAP) in patients with age-related macular degeneration. Ann Acad Med Singapore 2006; 35:420-4. [PMID: 16865194]
28. Hendrickx M, Leyns L. Non-conventional Frizzled ligands and Wnt receptors. Dev Growth Differ 2008; 50:229-43. [PMID: 18366384]
29. Nikopoulos K, Venselaar H, Collin RW, Riveiro-Alvarez R, Boonstra FN, Hooymans JM, Mukhopadhyay A, Shears D, van Bers M, de Wijs IJ, van Essen AJ, Sijmons RH, Tilanus MA, van Nouhuys CE, Ayuso C, Hoefsloot LH, Cremers FP. Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. Hum Mutat 2010; 31:656-66. [PMID: 20340138]
30. Ells A, Guernsey DL, Wallace K, Zheng B, Vincer M, Allen A, Ingram A, DaSilva O, Siebert L, Sheidow T, Beis J, Robitaille JM. Severe retinopathy of prematurity associated with FZD4 mutations. Ophthalmic Genet 2010; 31:37-43. [PMID: 20141357]
31. Luhmann UF, Lin J, Acar N, Lammel S, Feil S, Grimm C, Seeliger MW, Hammes HP, Berger W. Role of the Norrie disease pseudoglioma gene in sprouting angiogenesis during development of the retinal vasculature. Invest Ophthalmol Vis Sci 2005; 46:3372-82. [PMID: 16123442]
32. Brod RD, Shields JA, Shields CL, Oberkircher OR, Sabol LJ. Unusual retinal and renal vascular lesions in the Klippel- Trenaunay-Weber syndrome. Retina 1992; 12:355-8. [PMID: 1336616]
33. Nambu H, Nambu R, Oshima Y, Hackett SF, Okoye G, Wiegand S, Yancopoulos G, Zack DJ, Campochiaro PA. Angiopoietin 1 inhibits ocular neovascularization and breakdown of the blood-retinal barrier. Gene Ther 2004; 11:865-73. [PMID: 15042118]
34. Fedi P, Bafico A, Nieto Soria A, Burgess WH, Miki T, Bottaro DP, Kraus MH, Aaronson SA. Isolation and biochemical characterization of the human Dkk-1 homologue, a novel inhibitor of mammalian Wnt signaling. J Biol Chem 1999; 274:19465-72. [PMID: 10383463]
35. Hughes JM, Groot AJ, van der Groep P, Sersansie R, Vooijs M, van Diest PJ, Van Noorden CJ, Schlingemann RO, Klaassen I. Active HIF-1 in the normal human retina. J Histochem Cytochem 2010; 58:247-54. [PMID: 19901273]
36. Kozulin P, Natoli R, O'Brien KM, Madigan MC, Provis JM. Differential expression of anti-angiogenic factors and guidance genes in the developing macula. Mol Vis 2009; 15:45-59. [PMID: 19145251]
37. Sun J, Hopkins BD, Tsujikawa K, Perruzzi C, Adini I, Swerlick R, Bornstein P, Lawler J, Benjamin LE. Thrombospondin-1 modulates VEGF-A-mediated Akt signaling and capillary survival in the developing retina. Am J Physiol Heart Circ Physiol 2009; 296:H1344-51. [PMID: 19304944]
38. Hackett SF, Ozaki H, Strauss RW, Wahlin K, Suri C, Maisonpierre P, Yancopoulos G, Campochiaro PA. Angiopoietin 2 expression in the retina: upregulation during physiologic and pathologic neovascularization. J Cell Physiol 2000; 184:275-84. [PMID: 10911358]
39. Kapitsinou PP, Haase VH. The VHL tumor suppressor and HIF: insights from genetic studies in mice. Cell Death Differ 2008; 15:650-9. [PMID: 18219317]
40. Roberts RL, Green J, Lewis B. Lutein and zeaxanthin in eye and skin health. Clin Dermatol 2009; 27:195-201. [PMID: 19168000]
41. Landrum JT, Bone RA. Lutein, zeaxanthin, and the macular pigment. Arch Biochem Biophys 2001; 385:28-40. [PMID: 11361022]
42. Loane E, Nolan JM, O'Donovan O, Bhosale P, Bernstein PS, Beatty S. Transport and retinal capture of lutein and zeaxanthin with reference to age-related macular degeneration. Surv Ophthalmol 2008; 53:68-81. [PMID: 18191658]
43. Duncan KG, Hosseini K, Bailey KR, Yang H, Lowe RJ, Matthes MT, Kane JP, LaVail MM, Schwartz DM, Duncan JL. Expression of reverse cholesterol transport proteins ATPbinding cassette A1 (ABCA1) and scavenger receptor BI (SRBI) in the retina and retinal pigment epithelium. Br J Ophthalmol 2009; 93:1116-20. [PMID: 19304587]
44. Kunduzova O, Alet N, Delesque-Touchard N, Millet L, Castan-Laurell I, Muller C, Dray C, Schaeffer P, Herault JP, Savi P, Bono F, Valet P. Apelin/APJ signaling system: a potential link between adipose tissue and endothelial angiogenic processes. FASEB J 2008; 22:4146-53. [PMID: 18708591]
45. Anderson DH, Radeke MJ, Gallo NB, Chapin EA, Johnson PT, Curletti CR, Hancox LS, Hu J, Ebright JN, Malek G, Hauser MA, Rickman CB, Bok D, Hageman GS, Johnson LV. The pivotal role of the complement system in aging and agerelated macular degeneration: hypothesis re-visited. Prog Retin Eye Res 2010; 29:95-112. [PMID: 19961953]
46. Carson-Walter EB, Hampton J, Shue E, Geynisman DM, Pillai PK, Sathanoori R, Madden SL, Hamilton RL, Walter KA. Plasmalemmal vesicle associated protein-1 is a novel marker implicated in brain tumor angiogenesis. Clin Cancer Res 2005; 11:7643-50. [PMID: 16278383]
47. Faurobert E, Albiges-Rizo C. Recent insights into cerebral cavernous malformations: a complex jigsaw puzzle under construction. FEBS J 2010; 277:1084-96. [PMID: 20096036]
48. Meyer-Schwickerath R, Pfeiffer A, Blum WF, Freyberger H, Klein M, Losche C, Rollmann R, Schatz H. Vitreous levels of the insulin-like growth factors I and II, and the insulin-like growth factor binding proteins 2 and 3, increase in neovascular eye disease. Studies in nondiabetic and diabetic subjects. J Clin Invest 1993; 92:2620-5. [PMID: 7504689]
49. Fort P, Estrada FJ, Bordais A, Mornet D, Sahel JA, Picaud S, Vargas HR, Coral-Vazquez RM, Rendon A. The sarcoglycansarcospan complex localization in mouse retina is independent from dystrophins. Neurosci Res 2005; 53:25-33. [PMID: 15993965]
50. Eichler W, Yafai Y, Wiedemann P, Reichenbach A. Angiogenesis-related factors derived from retinal glial (Muller) cells in hypoxia. Neuroreport 2004; 15:1633-7. [PMID: 15232297]
51. Tikellis G, Gillies MC, Guymer RH, McAllister IL, Shaw JE, Wong TY. Retinal vascular caliber and macular telangiectasia type 2. Ophthalmology 2009; 116:319-23. [PMID: 19187824]
52. Macaulay IC, Tijssen MR, Thijssen-Timmer DC, Gusnanto A, Steward M, Burns P, Langford CF, Ellis PD, Dudbridge F, Zwaginga JJ, Watkins NA, van der Schoot CE, Ouwehand WH. Comparative gene expression profiling of in vitro differentiated megakaryocytes and erythroblasts identifies novel activatory and inhibitory platelet membrane proteins. Blood 2007; 109:3260-9. [PMID: 17192395]
53. Mottl AK. Shoham, David A., North, Kari E. Angiotensin II type 1 receptor polymorphisms and susceptibility to hypertension: A HuGE review. Genet Med 2008; 10:15.
54. van der Veen RL, Fuijkschot J, Willemsen MA, Cruysberg JR, Berendschot TT, Theelen T. Patients with Sjogren-Larsson syndrome lack macular pigment. Ophthalmology 2010; 117:966-71. [PMID: 20163870]
55. Rizzo WB, Carney G. Sjogren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2). Hum Mutat 2005; 26:1-10. [PMID: 15931689]
56. Loewen N, Chen J, Dudley VJ, Sarthy VP, Mathura JR Jr. Genomic response of hypoxic Muller cells involves the very low density lipoprotein receptor as part of an angiogenic network. Exp Eye Res 2009; 88:928-37. [PMID: 19233325]
57. MacDonald ML, Goldberg YP, Macfarlane J, Samuels ME, Trese MT, Shastry BS. Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. Clin Genet 2005; 67:363-6. [PMID: 15733276]
58. Drenser KA, Dailey W, Vinekar A, Dalal K, Capone A Jr, Trese MT. Clinical presentation and genetic correlation of patients with mutations affecting the FZD4 gene. Arch Ophthalmol 2009; 127:1649-54. [PMID: 20008721]
59. Toomes C, Bottomley HM, Scott S, Mackey DA, Craig JE, Appukuttan B, Stout JT, Flaxel CJ, Zhang K, Black GC, Fryer A, Downey LM, Inglehearn CF. Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci 2004; 45:2083-90. [PMID: 15223780]