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Malattia Leventinese(MLVT)

MedGen UID:
338846
•Concept ID:
C1852020
•
Disease or Syndrome
Synonyms: MALATTIA LEVENTINESE; MLVT
 
OMIM®: 126600; 601548

Recent clinical studies

Etiology

Choroidal Neovascularization in Malattia Leventinese Diagnosed Using Optical Coherence Tomography Angiography.
Serra R, Coscas F, Messaoudi N, Srour M, Souied E
Am J Ophthalmol 2017 Apr;176:108-117. Epub 2017 Jan 11 doi: 10.1016/j.ajo.2016.12.027. PMID: 28088509
Angiography features of early onset drusen.
Guigui B, Leveziel N, Martinet V, Massamba N, Sterkers M, Coscas G, Souied EH
Br J Ophthalmol 2011 Feb;95(2):238-44. Epub 2010 Jul 7 doi: 10.1136/bjo.2009.178400. PMID: 20610475
Indocyanine green angiography features of Malattia leventinese.
Souied EH, Leveziel N, Querques G, Darmon J, Coscas G, Soubrane G
Br J Ophthalmol 2006 Mar;90(3):296-300. doi: 10.1136/bjo.2005.081802. PMID: 16488948Free PMC Article
Optical coherent tomography features of malattia leventinese.
Souied EH, Leveziel N, Letien V, Darmon J, Coscas G, Soubrane G
Am J Ophthalmol 2006 Feb;141(2):404-7. doi: 10.1016/j.ajo.2005.09.001. PMID: 16458713
Analysis of the Arg345Trp disease-associated allele of the EFEMP1 gene in individuals with early onset drusen or familial age-related macular degeneration.
Guymer RH, McNeil R, Cain M, Tomlin B, Allen PJ, Dip CL, Baird PN
Clin Exp Ophthalmol 2002 Dec;30(6):419-23. doi: 10.1046/j.1442-9071.2002.00572.x. PMID: 12427233

Diagnosis

Diagnostic definition of malattia leventinese in a family from Colombia.
Gelvez N, Hurtado-Villa P, Flórez S, Brieke AC, Rodríguez F, Bertolotto AM, Tamayo ML
Biomedica 2021 Sep 22;41(3):388-395. doi: 10.7705/biomedica.5604. PMID: 34559486Free PMC Article
Choroidal Neovascularization in Malattia Leventinese Diagnosed Using Optical Coherence Tomography Angiography.
Serra R, Coscas F, Messaoudi N, Srour M, Souied E
Am J Ophthalmol 2017 Apr;176:108-117. Epub 2017 Jan 11 doi: 10.1016/j.ajo.2016.12.027. PMID: 28088509
Multimodal morphological and functional characterization of Malattia Leventinese.
Querques G, Guigui B, Leveziel N, Querques L, Bandello F, Souied EH
Graefes Arch Clin Exp Ophthalmol 2013 Mar;251(3):705-14. Epub 2012 Jul 20 doi: 10.1007/s00417-012-2106-5. PMID: 22814526
Optical coherent tomography features of malattia leventinese.
Souied EH, Leveziel N, Letien V, Darmon J, Coscas G, Soubrane G
Am J Ophthalmol 2006 Feb;141(2):404-7. doi: 10.1016/j.ajo.2005.09.001. PMID: 16458713
Malattia leventinese presenting with subretinal neovascular membrane and hemorrhage.
Pager CK, Sarin LK, Federman JL, Eagle R, Hageman G, Rosenow J, Donoso LA
Am J Ophthalmol 2001 Apr;131(4):517-8. doi: 10.1016/s0002-9394(00)00821-7. PMID: 11292424

Prognosis

Malattia leventinese/Doyne honeycomb retinal dystrophy in a chinese family with mutation of the EFEMP1 gene.
Zhang T, Xie X, Cao G, Jiang H, Wu S, Su Z, Zhang K, Lu F
Retina 2014 Dec;34(12):2462-71. doi: 10.1097/IAE.0000000000000259. PMID: 25111685
Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration.
Marmorstein LY, McLaughlin PJ, Peachey NS, Sasaki T, Marmorstein AD
Hum Mol Genet 2007 Oct 15;16(20):2423-32. Epub 2007 Jul 30 doi: 10.1093/hmg/ddm199. PMID: 17664227
Cross-sectional study of visual acuity and electroretinogram in two types of dominant drusen.
Gerber DM, Munier FL, Niemeyer G
Invest Ophthalmol Vis Sci 2003 Feb;44(2):493-6. doi: 10.1167/iovs.01-0787. PMID: 12556373
Assessment of the phenotypic range seen in Doyne honeycomb retinal dystrophy.
Evans K, Gregory CY, Wijesuriya SD, Kermani S, Jay MR, Plant C, Bird AC
Arch Ophthalmol 1997 Jul;115(7):904-10. doi: 10.1001/archopht.1997.01100160074012. PMID: 9230832

Clinical prediction guides

Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity.
Daniel S, Renwick M, Chau VQ, Datta S, Maddineni P, Zode G, Wade EM, Robertson SP, Petroll WM, Hulleman JD
J Mol Med (Berl) 2020 Nov;98(11):1639-1656. Epub 2020 Sep 22 doi: 10.1007/s00109-020-01974-z. PMID: 32964303Free PMC Article
Malattia leventinese/Doyne honeycomb retinal dystrophy in a chinese family with mutation of the EFEMP1 gene.
Zhang T, Xie X, Cao G, Jiang H, Wu S, Su Z, Zhang K, Lu F
Retina 2014 Dec;34(12):2462-71. doi: 10.1097/IAE.0000000000000259. PMID: 25111685
Multimodal morphological and functional characterization of Malattia Leventinese.
Querques G, Guigui B, Leveziel N, Querques L, Bandello F, Souied EH
Graefes Arch Clin Exp Ophthalmol 2013 Mar;251(3):705-14. Epub 2012 Jul 20 doi: 10.1007/s00417-012-2106-5. PMID: 22814526
Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration.
Marmorstein LY, Munier FL, Arsenijevic Y, Schorderet DF, McLaughlin PJ, Chung D, Traboulsi E, Marmorstein AD
Proc Natl Acad Sci U S A 2002 Oct 1;99(20):13067-72. Epub 2002 Sep 19 doi: 10.1073/pnas.202491599. PMID: 12242346Free PMC Article
Malattia leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen.
Edwards AO, Klein ML, Berselli CB, Hejtmancik JF, Rust K, Wirtz MK, Weleber RG, Acott TS
Am J Ophthalmol 1998 Sep;126(3):417-24. doi: 10.1016/s0002-9394(98)00097-x. PMID: 9744375

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