References
Aaberg TM and
Han DP
(1987)
Evaluation of phenotypic similarities between Stargardt flavimaculatus and retinal pigment epithelial pattern dystrophies.
Transactions of the American Ophthalmological Society
85:
101–119.
Allikmets R
(1997)
A photoreceptor cell‐specific ATP‐binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
Nature Genetics
17(1):
122.
Allikmets R
(2000)
Further evidence for an association of ABCR alleles with age‐related macular degeneration. The International ABCR Screening Consortium.
American Journal of Human Genetics
67(2):
487–491.
Allikmets R,
Shroyer NF,
Singh N et al.
(1997)
Mutation of the Stargardt disease gene (ABCR) in age‐related macular degeneration.
Science
277(5333):
1805–1807.
Anderson DH,
Mullins RF,
Hageman GS and
Johnson LV
(2002)
A role for local inflammation in the formation of drusen in the aging eye.
American Journal of Ophthalmology
134(3):
411–431.
Baird PN,
Chu D,
Guida E,
Vu HT and
Guymer R
(2004)
Association of the M55L and Q192R paraoxonase gene polymorphisms with age‐related macular degeneration.
American Journal of Ophthalmology
138(4):
665–666.
Baird PN,
Guida E,
Chu DT,
Vu HT and
Guymer RH
(2004)
The epsilon2 and epsilon4 alleles of the apolipoprotein gene are associated with age‐related macular degeneration.
Investigative Ophthalmology & Visual Science
45(5):
1311–1315.
Baird PN,
Richardson AJ,
Robman LD et al.
(2006)
Apolipoprotein (APOE) gene is associated with progression of age‐related macular degeneration (AMD).
Human Mutation
27(4):
337–342.
Barbazetto I,
Burdan A,
Bressler NM et al.
(2003)
Photodynamic therapy of subfoveal choroidal neovascularization with verteporfin: fluorescein angiographic guidelines for evaluation and treatment – TAP and VIP report No. 2.
Archives of Ophthalmology
121(9):
1253–1268.
Barral S,
Francis PJ,
Shultz DW et al.
(2006)
Expanded genome scan in extended families with age‐related macular degeneration.
Investigative Ophthalmology & Visual Science
47(12):
5453–5459.
Bird AC,
Bressler NM,
Bressler SB et al.
(1995)
An international classification and grading system for age‐related maculopathy and age‐related macular degeneration. The International ARM Epidemiological Study Group.
Survey of Ophthalmology
39(5):
367–374.
Boulton M and
Dayhaw‐Barker P
(2001)
The role of the retinal pigment epithelium: topographical variation and ageing changes.
Eye
15(part 3):
384–389.
Chen W,
Stambolian D,
Edwards AD et al.
(2010)
Genetic variants near TIMP3 and high‐density lipoprotein‐associated loci influence susceptibility to age‐related macular degeneration.
Proceedings of the National Academy of Sciences of the USA
107(16):
7401–7406.
Churchill AJ,
Carter JG,
Lovell HC et al.
(2006)
VEGF polymorphisms are associated with neovascular age‐related macular degeneration.
Human Molecular Genetics
15(19):
2955–2961.
Cideciyan AV,
Hauswirth WW,
Aleman TS et al.
(2009)
Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year.
Human Gene Therapy
20(9):
999–1004.
Clemons TE,
Milton RC,
Klein R,
Seddon JM and
Ferris FL 3rd
(2005)
Risk factors for the incidence of advanced age‐related macular degeneration in the Age‐Related Eye Disease Study (AREDS) AREDS report no. 19.
Ophthalmology
112(4):
533–539.
Combadiere C,
Feumi C,
Raoul W et al.
(2007)
CX3CR1‐dependent subretinal microglia cell accumulation is associated with cardinal features of age‐related macular degeneration.
Journal of Clinical Investigation
117(10):
2920–2928.
Conley YP,
Jakobsdottir J,
Mah T et al.
(2006)
CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age‐related maculopathy: AREDS and CHS cohorts and meta‐analyses.
Human Molecular Genetics
15(21):
3206–3218.
Conley YP,
Thalamuthu A,
Jakobsdottir J et al.
(2005)
Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age‐related maculopathy.
Human Molecular Genetics
14(14):
1991–2002.
Cottet S and
Schorderet DF
(2009)
Mechanisms of apoptosis in retinitis pigmentosa.
Current Molecular Medicine
9(3):
375–383.
Dewan A,
Liu M,
Hartman S et al.
(2006)
HTRA1 promoter polymorphism in wet age‐related macular degeneration.
Science
314(5801):
989–992.
Edwards AO,
Ritter R 3rd,
Abel KJ et al.
(2005)
Complement factor H polymorphism and age‐related macular degeneration.
Science
308(5720):
421–424.
Ennis S,
Jomary C,
Mullins R et al.
(2008)
Association between the SERPING1 gene and age‐related macular degeneration: a two‐stage case‐control study.
Lancet
372(9652):
1828–1834.
Fagerness JA,
Maller JB,
Neale BM et al.
(2009)
Variation near complement factor I is associated with risk of advanced AMD.
European Journal of Human Genetics
17(1):
100–104.
Ferrara N,
Damico L,
Shams L,
Lowman H and
Kim R
(2006)
Development of ranibizumab, an anti‐vascular endothelial growth factor antigen binding fragment, as therapy for neovascular age‐related macular degeneration.
Retina
26(8):
859–870.
Fisher SA,
Abecasis GR,
Yashar BM et al.
(2005)
Meta‐analysis of genome scans of age‐related macular degeneration.
Human Molecular Genetics
14(15):
2257–2264.
Fleischhauer J,
Njoh WA and
Niemeyer G
(2005)
Syndromic retinitis pigmentosa: ERG and phenotypic changes.
Klinische Monatsblätter für Augenheilkunde
222(3):
186–190.
Francis PJ,
George S,
Schultz DW et al.
(2007)
The LOC387715 gene, smoking, body mass index, environmental associations with advanced age‐related macular degeneration.
Human Heredity
63(3–4):
212–218.
Francis PJ,
Schultz DW,
Hamon S et al.
(2007)
Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age‐related macular degeneration.
PLoS ONE
2(11):
e1197.
Francis PJ,
Zhang H,
Dewan A et al.
(2008)
Joint effects of polymorphisms in the HTRA1, LOC387715/ARMS2, and CFH genes on AMD in a Caucasian population.
Molecular Vision
14:
1395–1400.
Friedman DS,
O'Colmain BJ,
Munoz B et al.
(2004)
Prevalence of age‐related macular degeneration in the United States.
Archives of Ophthalmology
122(4):
564–572.
Friedman E
(2004)
Update of the vascular model of AMD.
British Journal of Ophthalmology
88(2):
161–163.
Fritsche LG,
Loenhardt T,
Janssen A et al.
(2008)
Age‐related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA.
Nature Genetics
40(7):
892–896.
Gold B,
Merriam JE,
Zernant J et al.
(2006)
Variation in factor B (BF) and complement component 2 (C2) genes is associated with age‐related macular degeneration.
Nature Genetics
38(4):
458–462.
Grover S,
Fishman GA and
Stone EM
(2002)
Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations.
Ophthalmology
109(6):
1110–1117.
Guymer R,
Luthert P and
Bird A
(1999)
Changes in Bruch's membrane and related structures with age.
Progress in Retinal and Eye Research
18(1):
59–90.
Guymer RH and
Chong EW
(2006)
Modifiable risk factors for age‐related macular degeneration.
Medical Journal of Australia
184(9):
455–458.
Hageman GS,
Anderson DH,
Johnson LV et al.
(2005)
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age‐related macular degeneration.
Proceedings of the National Academy of Sciences of the USA
102(20):
7227–7232.
Hageman GS,
Hancox LS,
Taiber AJ et al.
(2006)
Extended haplotypes in the complement factor H (CFH) and CFH‐related (CFHR) family of genes protect against age‐related macular degeneration: characterization, ethnic distribution and evolutionary implications.
Annals of Medicine
38(8):
592–604.
Hageman GS,
Luthert PJ,
Victor Chong NH et al.
(2001)
An integrated hypothesis that considers drusen as biomarkers of immune‐mediated processes at the RPE‐Bruch's membrane interface in aging and age‐related macular degeneration.
Progress in Retinal and Eye Research
20(6):
705–732.
Haines JL,
Hauser MA,
Schmidt S et al.
(2005)
Complement factor H variant increases the risk of age‐related macular degeneration.
Science
308(5720):
419–421.
Haines JL,
Schnetz‐Boutaud N,
Schmidt S et al.
(2006)
Functional candidate genes in age‐related macular degeneration: significant association with VEGF, VLDLR, and LRP6.
Investigative Ophthalmology & Visual Science
47(1):
329–335.
Hamel CP
(2007)
Cone rod dystrophies.
Orphanet Journal of Rare Diseases
2:
7.
Hartong DT,
Berson EL and
Dryja TP
(2006)
Retinitis pigmentosa.
Lancet
368(9549):
1795–1809.
Hughes AE,
Orr N,
Esfandiary H et al.
(2006)
A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age‐related macular degeneration.
Nature Genetics
38(10):
1173–1177.
Jakobsdottir J,
Conley YP,
Weeks DE et al.
(2005)
Susceptibility genes for age‐related maculopathy on chromosome 10q26.
American Journal of Human Genetics
77(3):
389–407.
Johnson LV,
Leitner WP,
Staples MK and
Anderson DH
(2001)
Complement activation and inflammatory processes in Drusen formation and age related macular degeneration.
Experimental Eye Research
73(6):
887–896.
Kanda A,
Chen W,
Othman M et al.
(2007)
A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age‐related macular degeneration.
Proceedings of the National Academy of Sciences of the USA
104(41):
16227–16232.
Kenealy SJ,
Schmidt S,
Agarwal A et al.
(2004)
Linkage analysis for age‐related macular degeneration supports a gene on chromosome 10q26.
Molecular Vision
10:
57–61.
Klaver CC,
Kliffen M,
van Duijn CM et al.
(1998)
Genetic association of apolipoprotein E with age‐related macular degeneration.
American Journal of Human Genetics
63(1):
200–206.
Klein ML and
Francis PJ
(2003)
Genetics of age‐related macular degeneration.
Ophthalmology Clinics of North America
16(4):
567–574.
Klein ML,
Mauldin WM and
Stoumbos VD
(1994)
Heredity and age‐related macular degeneration. Observations in monozygotic twins.
Archives of Ophthalmology
112(7):
932–937.
Klein R,
Deng Y,
Klein BE et al.
(2007)
Cardiovascular disease, its risk factors and treatment, and age‐related macular degeneration: women's health initiative sight exam ancillary study.
American Journal of Ophthalmology
143(3):
473–483.
Klein R,
Klein BE,
Knudtson MD et al.
(2006)
Prevalence of age‐related macular degeneration in 4 racial/ethnic groups in the multi‐ethnic study of atherosclerosis.
Ophthalmology
113(3):
373–380.
Klein RJ,
Zeiss C,
Chew EY et al.
(2005)
Complement factor H polymorphism in age‐related macular degeneration.
Science
308(5720):
385–389.
Koenekoop RK
(2004)
An overview of Leber congenital amaurosis: a model to understand human retinal development.
Survey of Ophthalmology
49(4):
379–398.
Lim J,
Enger C and
Fine S
(1994)
Foveomacular dystrophy.
American Journal of Ophthalmology
117(1):
1–5.
Magnusson KP,
Duan S,
Sigurdsson H et al.
(2006)
CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD.
PLoS Medicine
3(1):
e5.
Maguire AM,
High KA,
Auricchio A et al.
(2009)
Age‐dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose‐escalation trial.
Lancet
374(9701):
1597–1605.
Majewski J,
Schultz DW,
Weleber RG et al.
(2003)
Age‐related macular degeneration – a genome scan in extended families.
American Journal of Human Genetics
73(3):
540–550.
Maller JB,
Fagerness JA,
Reynolds RC et al.
(2007)
Variation in complement factor 3 is associated with risk of age‐related macular degeneration.
Nature Genetics
39(10):
1200–1201.
Marmor MF and
McNamara JA
(1996)
Pattern dystrophy of the retinal pigment epithelium and geographic atrophy of the macula.
American Journal of Ophthalmology
122(3):
382–392.
McTaggart KE,
Tran M,
Mah DY et al.
(2002)
Mutational analysis of patients with the diagnosis of choroideremia.
Human Mutation
20(3):
189–196.
Michaelides M,
Holder GE,
Bradshaw K,
Hunt DM and
Moore AT
(2005)
Cone‐rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.
Ophthalmology
112(9):
1592–1598.
Miller DM,
Espinosa‐Heidmann DG,
Legra J et al.
(2004)
The association of prior cytomegalovirus infection with neovascular age‐related macular degeneration.
American Journal of Ophthalmology
138(3):
323–328.
Neale BM,
Fagerness J,
Reynolds R et al.
(2010)
Genome‐wide association study of advanced age‐related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
Proceedings of the National Academy of Sciences of the USA
107(16):
7395–7400.
Rivera A,
Fisher SA,
Fritsche LG et al.
(2005)
Hypothetical LOC387715 is a second major susceptibility gene for age‐related macular degeneration, contributing independently of complement factor H to disease risk.
Human Molecular Genetics
14(21):
3227–3236.
Robman L,
Mahdi O,
McCarty C et al.
(2005)
Exposure to Chlamydia pneumoniae infection and progression of age‐related macular degeneration.
American Journal of Epidemiology
161(11):
1013–1019.
Santangelo SL,
Yen CH,
Haddad S et al.
(2005)
A discordant sib‐pair linkage analysis of age‐related macular degeneration.
Ophthalmic Genetics
26(2):
61–67.
Schmidt S,
Scott WK,
Postel EA et al.
(2004)
Ordered subset linkage analysis supports a susceptibility locus for age‐related macular degeneration on chromosome 16p12.
BMC Genetics
5:
18.
Schultz DW,
Klein ML,
Humpert AJ et al.
(2003)
Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN‐1 is associated with age‐related macular degeneration in a large family.
Human Molecular Genetics
12(24):
3315–3323.
Schultz DW,
Weleber RG,
Lawrence G et al.
(2005)
HEMICENTIN‐1 (FIBULIN‐6) and the 1q31 AMD locus in the context of complex disease: review and perspective.
Ophthalmic Genetics
26(2):
101–105.
Seabra MC
(1996)
New insights into the pathogenesis of choroideremia: a tale of two REPs.
Ophthalmic Genetics
17(2):
43–46.
Seabra MC,
Mules EH and
Hume AN
(2002)
Rab GTPases, intracellular traffic and disease.
Trends in Molecular Medicine
8(1):
23–30.
Seddon JM,
Ajani UA and
Mitchell BD
(1997)
Familial aggregation of age‐related maculopathy.
American Journal of Ophthalmology
123(2):
199–206.
Seddon JM,
George S,
Rosner B and
Klein ML
(2006)
CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age‐related macular degeneration.
Human Heredity
61(3):
157–165.
Sieving PA,
Niffenegger JH and
Berson EL
(1986)
Electroretinographic findings in selected pedigrees with choroideremia.
American Journal of Ophthalmology
101(3):
361–367.
Souied EH,
Rozet JM,
Gerber S et al.
(1998)
Two novel missense mutations in the peripherin/RDS gene in two unrelated French patients with autosomal dominant retinitis pigmentosa.
European Journal of Ophthalmology
8(2):
98–101.
Spencer KL,
Hauser MA,
Olson LM et al.
(2007)
Protective effect of complement factor B and complement component 2 variants in age‐related macular degeneration.
Human Molecular Genetics
16(16):
1986–1992.
Stone EM,
Braun TA,
Russel SR et al.
(2004)
Missense variations in the fibulin 5 gene and age‐related macular degeneration.
New England Journal of Medicine
351(4):
346–353.
Swaroop A,
Branham KE,
Chen W and
Abecasis G
(2007)
Genetic susceptibility to age‐related macular degeneration: a paradigm for dissecting complex disease traits.
Human Molecular Genetics
16(Spec. No. 2):
R174–R182.
Tuo J,
Ning B,
Bojanowski CM et al.
(2006)
Synergic effect of polymorphisms in ERCC6 5′ flanking region and complement factor H on age‐related macular degeneration predisposition.
Proceedings of the National Academy of Sciences of the USA
103(24):
9256–9261.
Tuo J,
Smith BC,
Bojanowski CM et al.
(2004)
The involvement of sequence variation and expression of CX3CR1 in the pathogenesis of age‐related macular degeneration.
Faseb Journal
18(11):
1297–1299.
Wang G,
Spencer KL,
Scott WK et al.
(2010)
Analysis of the indel at the ARMS2 3′UTR in age‐related macular degeneration.
Human Genetics
127(5):
595–602.
Watzke RC,
Folk JC and
Lang RM
(1982)
Pattern dystrophy of the retinal pigment epithelium.
Ophthalmology
89(12):
1400–1406.
Westerfeld C and
Mukai S
(2008)
Stargardt's disease and the ABCR gene.
Seminar in Ophthalmology
23(1):
59–65.
Yang Z,
Camp NJ,
Sun H et al.
(2006)
A variant of the HTRA1 gene increases susceptibility to age‐related macular degeneration.
Science
314(5801):
992–993.
Yang Z,
Lin W,
Moshfeghi D et al.
(2003)
A novel mutation in the RDS/peripherin gene causes adult‐onset foveomacular dystrophy.
American Journal of Ophthalmology
135:
213–218.
Yang Z,
Stratton C,
Francis PJ et al.
(2008)
Toll‐like receptor 3 and geographic atrophy in age‐related macular degeneration.
New England Journal of Medicine
359(14):
1456–1463.
Yates JR,
Sepp T,
Matharu BK et al.
(2007)
Complement C3 variant and the risk of age‐related macular degeneration.
New England Journal of Medicine
357(6):
553–561.
Zareparsi S,
Buraczynska M,
Branham KE et al.
(2005)
Toll‐like receptor 4 variant D299G is associated with susceptibility to age‐related macular degeneration.
Human Molecular Genetics
14(11):
1449–1455.
Zhang K,
Garibaldi DC,
Li Y,
Green WR and
Zack DJ
(2002)
Butterfly‐shaped pattern dystrophy: a genetic, clinical, and histopathological report.
Archives of Ophthalmology
120(4):
485–490.
Further Reading
Daiger SP,
Rossiter BJF,
Greenberg J,
Christoffels A and
Hide W
(1998)
Data services and software for identifying genes and mutations causing retinal degeneration.
Investigative Ophthalmology & Visual Science
39:
S295.
RetNet, http://www.sph.uth.tmc.edu/RetNet/
Genetests http://www.ncbi.nlm.nih.gov/sites/GeneTests/?db=GeneTests
Heckenlively JR and
Arden GB (eds)
(2006)
Principles and Practice of Clinical Electrophysiology of Vision,
2nd edn.
Boston: MIT Press.
Klintworth G and
Garner A (eds)
(2008)
Garner and Klintworth's Pathobiology of Ocular Disease, 3rd edn.
Informa Healthcare USA.
Ryan SJ (ed.)
(2005)
Retina,
4th edn.
Philadelphia: Mosby and Elsevier.
Taylor D and
Hoyt CS (eds)
(2004)
Pediatric Ophthalmology and Strabismus,
3rd edn.
Oxford: Blackwell Science.
