Late-onset retinal macular degeneration: Clinical insights into an inherited retinal degeneration

British Journal of Ophthalmology

Volumn 93, Issue 3, 2009, Pages 284-289

  Borooah, S ^a   Collins, C ^a   Wright, A ^b   Dhillon, B ^a  

^a PRINCESS ALEXANDRA EYE PAVILION   (United Kingdom)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOTHELIAL CELL GROWTH FACTOR; RETINOL; VASCULAR TARGETING AGENT;

ANTERIOR EYE SEGMENT; AUTOSOMAL DOMINANT INHERITANCE; C1QTNF5 GENE; CHOROID GYRATE ATROPHY; CHROMOSOME 11; CLINICAL FEATURE; DARK ADAPTATION; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DISEASE SEVERITY; DRUG MEGADOSE; ELECTRORETINOGRAPHY; GENE; GENE MUTATION; GENETIC DISORDER; GENETICS; HISTOPATHOLOGY; HUMAN; LATE ONSET RETINA MACULA DEGENERATION; NONHUMAN; OPHTHALMOSCOPY; PATHOGENESIS; PATIENT CARE; PATIENT IDENTIFICATION; PATIENT MONITORING; PERIMETRY; PHENOTYPE; PIGMENTATION; PRIORITY JOURNAL; RARE DISEASE; RETINA MACULA AGE RELATED DEGENERATION; RETINA MACULA DEGENERATION; REVIEW; SUBRETINAL NEOVASCULARIZATION; SYSTEMATIC REVIEW; VISUAL ACUITY; VISUAL DISORDER; VISUAL IMPAIRMENT; VITAMIN SUPPLEMENTATION;

ADULT; AGED; AGED, 80 AND OVER; COLLAGEN; FEMALE; FUNDUS OCULI; HUMANS; MACULAR DEGENERATION; MALE; MIDDLE AGED; MUTATION; RETINA; VITAMIN A; VITAMINS;

EID: 61749093011     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjo.2008.150151     Document Type: Review

References (51)

1. Kuntz CA, Jacobson SG, Cideciyan AV, et al. Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration. Invest Ophthalmol Vis Sci 1996;37:1772-82.
2. Styles CJ, Dhillon B, Wright AF. The diagnosis of autosomal dominant late-onset retinal degeneration in two sisters. Eye 2003;17:530-2.
3. Ayyagari R, Griesinger IB, Bingham E, et al. Autosomal dominant hemorrhagic macular dystrophy not associated with the TIMP3 gene. Arch Ophthalmol 2000;118:85-92.
4. Ayyagari R, Mandal MN, Karoukis AJ, et al. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. Invest Ophthalmol Vis Sci 2005;46:3363-71.
5. Subrayan V, Morris B, Armbrecht AM, et al. Long anterior lens zonules in late-onset retinal degeneration (L-ORD). Am J Ophthalmol 2005;140:1127-9.
6. Moroi SE, Lark KK, Sieving PA, et al. Long anterior zonules and pigment dispersion. Am J Ophthalmol 2003;136:1176-8.
7. Jacobson SG, Cideciyan AV, Wright E, et al. Phenotypic marker for early disease detection in dominant late-onset retinal degeneration. Invest Ophthalmol Vis Sci 2001;42:1882-90.
8. Cideciyan AV, Pugh EN Jr, Lamb TD, et al. Rod plateaux during dark adaptation in Sorsby's fundus dystrophy and vitamin A deficiency. Invest Ophthalmol Vis Sci 1997;38:1786-94.
9. Sorsby A, MASON ME. A fundus dystrophy with unusual features. Br J Ophthalmol 1949;33:67-97.
10. Hamilton WK, Ewing CC, Ives EJ, et al. Sorsby's fundus dystrophy. Ophthalmology 1989;96:1755-62.
11. Haimovici R, Wroblewski J, Piguet B, et al. Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy). Eye 2002;16:7-15.
12. Edwards AO, Klein ML, Berselli CB, et al. Malattia leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen. Am J Ophthalmol 1998;126:417- 24.
13. Evans K, Gregory CY, Wijesuriya SD, et al. Assessment of the phenotypic range seen in Doyne honeycomb retinal dystrophy. Arch Ophthalmol 1997;115:904-10.
14. Piguet B, Haimovici R, Bird AC. Dominantly inherited drusen represent more than one disorder: a historical review. Eye 1995;9:34-41.
15. Burstedt MS, Forsman-Semb K, Golovleva I, et al. Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene. Arch Ophthalmol 2001;119:260-7.
16. Burstedt MS, Sandgren O, Golovleva I, et al. Retinal function in Bothnia dystrophy. An electrophysiological study. Vision Res 2003;43:2559-71.
17. Fuchs A. White spots of the fundus combined with night blindness and xerosis (Uyemura's syndrome). Am J Ophthalmol 1959;48:101-3.
18. Bors F, Fells P. Reversal of the complications of self-induced vitamin A deficiency. Br J Ophthalmol 1971;55:210-14.
19. Brosnahan DM, Kennedy SM, Converse CA, et al. Pathology of hereditary retinal degeneration associated with hypobetalipoproteinemia. Ophthalmology 1994;101:38-45.1
20. Duvall J, McKechnie NM, Lee WR, et al. Extensive subretinal pigment epithelial deposit in two brothers suffering from dominant retinitis pigmentosa. A histopathological study. Graefes Arch Clin Exp Ophthalmol 1986;224:299-309.
21. Milam AH, Curcio CA, Cideciyan AV, et al. Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration. Ophthalmology 2000;107:2256-66.
22. Haimovici R, Owens SL, Fitzke FW, et al. Dark adaptation in age-related macular degeneration: relationship to the fellow eye. Graefes Arch Clin Exp Ophthalmol 2002;240:90-5.
23. Sorsby A, FRANCESCHETTI A, JOSEPH R, et al. Choroideremia; clinical and genetic aspects. Br J Ophthalmol 1952;36:547-81.
24. Valle D, Kaiser-Kupfer M. Gyrate atrophy of the choroid and retina. Prog Clin Biol Res 1982;82:123-34.
25. Mura M, Sereda C, Jablonski MM, et al. Clinical and functional findings in choroideremia due to complete deletion of the CHM gene. Arch Ophthalmol 2007;125:1107-13.
26. Kalloniatis M, Fletcher EL. Retinitis pigmentosa: understanding the clinical presentation, mechanisms and treatment options. Clin Exp Optom 2004;87:65-80.
27. Marmor MF. The electroretinogram in retinitis pigmentosa. Arch Ophthalmol 1979;97:1300-4.
28. Sivaprasad S, Webster AR, Egan CA, et al. Clinical course and treatment outcomes of Sorsby fundus dystrophy. Am J Ophthalmol 2008;146:228-34.
29. Shapiro L, Scherer PE. The crystal structure of a complement-1q family protein suggests an evolutionary link to tumor necrosis factor. Curr Biol 1998;8:335-8.
30. Curcio CA, Millican CL. Basal linear deposit and large drusen are specific for early age-related maculopathy. Arch Ophthalmol 1999;117:329-39.
31. Green WR, Enger C. Age-related macular degeneration histopathologic studies. The 1992 Lorenz E. Zimmerman Lecture. Ophthalmology 1993;100:1519-35.
32. Hayward C, Shu X, Cideciyan AV, et al. Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration. Hum Mol Genet 2003;12:2657-67.
33. Marneros AG, Olsen BR. Age-dependent iris abnormalities in collagen XVIII/ endostatin deficient mice with similarities to human pigment dispersion syndrome. Invest Ophthalmol Vis Sci 2003;44:2367-72.
34. Doyne RW. A note on family choroiditis. Trans Ophthalmol Soc UK 1910;30:93-5.
35. Stephan S, Sherratt MJ, Hodson N, et al. Expression and supramolecular assembly of recombinant alpha1(viii) and alpha2(viii) collagen homotrimers. J Biol Chem 2004;279:21469-77.
36. Kijlstra A, La HE, Hendrikse F. Immunological factors in the pathogenesis and treatment of age-related macular degeneration. Ocul Immunol Inflamm 2005;13:3-11.
37. Chan D, Freddi S, Weng YM, et al. Interaction of collagen alpha1(X) containing engineered NC1 mutations with normal alpha1(X) in vitro. Implications for the molecular basis of schmid metaphyseal chondrodysplasia. J Biol Chem 1999;274:13091-7.
38. Marneros AG, Keene DR, Hansen U, et al. Collagen XVIII/endostatin is essential for vision and retinal pigment epithelial function. EMBO J 2004;23:89-99.
39. Trombetta ES, Parodi AJ. Quality control and protein folding in the secretory pathway. Annu Rev Cell Dev Biol 2003;19:649-76.
40. Shu X, Tulloch B, Lennon A, et al. Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5. Hum Mol Genet 2006;15:1680-9.
41. Wright A, Charlesworth B, Rudan I, et al. A polygenic basis for late-onset disease. Trends Genet 2003;19:97-106.
42. Shu X, Tulloch B, Lennon A, et al. Biochemical characterisation of the C1QTNF5 gene associated with late-onset retinal degeneration. A genetic model of age-related macular degeneration. Adv Exp Med Biol 2006;572:41-8.
43. Fritsche LG, Loenhardt T, Janssen A, et al. Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nat Genet 2008;40:892-6.
44. Gold B, Merriam JE, Zernant J, et al. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet 2006;38:458-62.
45. Yates JR, Sepp T, Matharu BK, et al. Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med 2007;357:553-61.
46. Edwards AO, Ritter R III, Abel KJ, et al. Complement factor H polymorphism and age-related macular degeneration. Science 2005;308:421-4.
47. Haines JL, Hauser MA, Schmidt S, et al. Complement factor H variant increases the risk of age-related macular degeneration. Science 2005;308:419-21.
48. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science 2005;308:385-9.
49. Tuo J, Ning B, Bojanowski CM, et al. Synergic effect of polymorphisms in ERCC6 59 flanking region and complement factor H on age-related macular degeneration predisposition. Proc Natl Acad Sci USA 2006;103:9256-61.
50. Stone EM, Braun TA, Russell SR, et al. Missense variations in the fibulin 5 gene and age-related macular degeneration. N Engl J Med 2004;351:346-53.
51. Yang Z, Camp NJ, Sun H, et al. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science 2006;314:992-3.