title: Juvenile-onset macular degeneration and allied disorders.
abstract: While age-related macular degeneration (AMD) is a leading cause of central vision loss among the elderly, many inherited diseases that present earlier in life share features of AMD. These diseases of juvenile-onset macular degeneration include Stargardt disease, Best disease, retinitis pigmentosa, X-linked retinoschisis, and other allied disorders. In particular, they can be accompanied by the appearance of drusen, geographic atrophy, macular hyperpigmentation, choroidal neovascularization, and disciform scarring just as in AMD, and often may be confused for the adult form of the disease. Diagnosis based on funduscopic findings alone can be challenging. However, the use of diagnostic studies such as electroretinography, electrooculography, optical coherence tomography, and fundus autofluorescence in conjunction with genetic testing can lead to an accurate diagnosis.
authors.affiliation: Department of Ophthalmology, University of Southern California Eye Institute, University of Southern California, Los Angeles, Calif., USA.
authors.forename: Victoria
authors.initials: V
authors.lastname: North
authors.forename: Rony
authors.initials: R
authors.lastname: Gelman
authors.forename: Stephen H
authors.initials: SH
authors.lastname: Tsang
mesh_terms: D017668:Age of Onset; D001766:Blindness / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology; D004596:Electroretinography; D014943:Global Health; D006801:Humans; D015994:Incidence; D008268:Macular Degeneration / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology; D041623:Tomography, Optical Coherence
references.citation: Surv Ophthalmol. 2006 May-Jun;51(3):232-58
references.pmid: 16644365
references.citation: Hum Genet. 2001 Apr;108(4):346-55
references.pmid: 11379881
references.citation: Arch Ophthalmol. 1997 May;115(5):609-15
references.pmid: 9152128
references.citation: Physiol Rev. 2008 Apr;88(2):639-72
references.pmid: 18391176
references.citation: Am J Hum Genet. 2010 Sep 10;87(3):424-9
references.pmid: 20826268
references.citation: Arch Ophthalmol. 2001 Mar;119(3):359-69
references.pmid: 11231769
references.citation: Vision Res. 2008 Nov;48(26):2569-77
references.pmid: 18289629
references.citation: Ophthalmology. 1981 Jul;88(7):688-92
references.pmid: 7267039
references.citation: Nat Genet. 1997 Mar;15(3):236-46
references.pmid: 9054934
references.citation: Hum Genet. 1999 Jun;104(6):449-53
references.pmid: 10453731
references.citation: Arch Ophthalmol. 1976 Dec;94(12):2061-7
references.pmid: 999551
references.citation: Hum Mol Genet. 1998 Mar;7(3):355-62
references.pmid: 9466990
references.citation: Proc Natl Acad Sci U S A. 2010 Oct 12;107(41):17551-6
references.pmid: 20876139
references.citation: Arch Ophthalmol. 1997 Jul;115(7):904-10
references.pmid: 9230832
references.citation: Ophthalmology. 1987 Jul;94(7):809-14
references.pmid: 3658351
references.citation: Trans Am Ophthalmol Soc. 1998;96:925-61
references.pmid: 10360311
references.citation: Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3349-54
references.pmid: 16123439
references.citation: Hum Mol Genet. 2002 May 15;11(10):1219-27
references.pmid: 12015282
references.citation: Am J Ophthalmol. 2007 Mar;143(3):516-8
references.pmid: 17317401
references.citation: Hum Mol Genet. 2005 Oct 1;14(19):2769-78
references.pmid: 16103129
references.citation: Graefes Arch Clin Exp Ophthalmol. 2005 Oct;243(10):1018-27
references.pmid: 15906064
references.citation: Invest Ophthalmol Vis Sci. 2005 Jan;46(1):310-6
references.pmid: 15623790
references.citation: Invest Ophthalmol Vis Sci. 1996 Jul;37(8):1693-8
references.pmid: 8675413
references.citation: Retina. 2009 Jun;29(6):835-47
references.pmid: 19357557
references.citation: Ophthalmic Res. 2005 May-Jun;37(3):159-67
references.pmid: 15942264
references.citation: Exp Eye Res. 2001 Dec;73(6):877-86
references.pmid: 11846518
references.citation: Hum Mutat. 2003 Nov;22(5):395-403
references.pmid: 14517951
references.citation: Ophthalmology. 2003 Jun;110(6):1151-8
references.pmid: 12799240
references.citation: Science. 1997 Sep 19;277(5333):1805-7
references.pmid: 9295268
references.citation: Arch Ophthalmol. 2003 Jun;121(6):851-5
references.pmid: 12796258
references.citation: Br J Ophthalmol. 2007 Dec;91(12):1650-5
references.pmid: 18024811
references.citation: Am J Ophthalmol. 2012 Apr;153(4):718-27, 727.e1-2
references.pmid: 22137208
references.citation: Graefes Arch Clin Exp Ophthalmol. 2005 Feb;243(2):90-100
references.pmid: 15614537
references.citation: Nat Genet. 1994 Dec;8(4):352-6
references.pmid: 7894485
references.citation: Hum Mutat. 2013 Mar;34(3):506-14
references.pmid: 23281133
references.citation: Prog Retin Eye Res. 2009 May;28(3):187-205
references.pmid: 19375515
references.citation: Br J Ophthalmol. 1999 Aug;83(8):914-8
references.pmid: 10413692
references.citation: Ophthalmology. 2006 Aug;113(8):1392-400
references.pmid: 16877078
references.citation: Surv Ophthalmol. 2004 Mar-Apr;49(2):214-30
references.pmid: 14998693
references.citation: Nat Genet. 1998 Jan;18(1):11-2
references.pmid: 9425888
references.citation: Ophthalmic Genet. 2003 Jun;24(2):75-80
references.pmid: 12789571
references.citation: Ann Intern Med. 2001 May 1;134(9 Pt 1):721-8
references.pmid: 11329229