Molecular genetics of macular dystrophies

British Journal of Ophthalmology

Volumn 80, Issue 11, 1996, Pages 1018-1022

  Zhang, Kang ^a   Yeon, Howard ^b   Han, Min ^b   Donoso, Larry A ^c  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b UNIVERSITY OF COLORADO   (United States)

^c WILLS EYE HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EYE FUNDUS; MOLECULAR GENETICS; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; RETINA MACULA VITELLIFORM DEGENERATION; SHORT SURVEY;

EID: 0029841736     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.80.11.1018     Document Type: Short Survey

References (81)

1. Kaplan J, Gerber S, Larget-Piet D, Rozet JM, Dollfus H, Dufier JL, et al. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet 1993;5:308-11.
2. Zhang K, Bither PP, Park R, Donoso LA, Seidman JG, Seidman CE. A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34. Arch Ophthalmol 1994;112:759-64.
3. Stone EM, Nichols BE, Kimura AE, Weingeist TA, Drack A, Sheffield VC. Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol 1994; 112:765-72.
4. Small KW, Weber JL, Roses AD, Lennon F, Vance JM, Pericak-Vance MA. North Carolina macular dystrophy is assigned to chromosome 6. Genomics 1992;13:681-5.
5. Small KW, Weber JL, Roses AD, Pericak-Vance MA. North Carolina macular dystrophy (MCDR1): a review and refined mapping to 6q14-q16.2. Ophthalmic Paediatr Genet 1993;14:143-50.
6. Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nat Genet 1992;1:246-50.
7. Gregory CY, Wijesuriya S, Evans K, Jay M, Bird AC, Bhattacharya SS. Linkage refinement localizes Sorsby fundus dystrophy between markers D22S275 and D22S278. J Med Genet 1995;32:240-1.
8. Weber BHF, Vogt G, Pruett RC, Stohr H, Felbor U. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP-3) in patients with Sorsby's fundus dystrophy. Nat Genet 1994;8:352-5.
9. Bressler NM, Bressler SB, Fine SL. Age-related macular degeneration. Surv Ophthalmol 1988;32:375-413.
10. Segato T, Midenam E, Blarzino MC. Age-related macular degeneration. Aging Clin Exp Res 1993;5:165-76.
11. Vinding T. Age-related macular degeneration. Macular changes, prevalence and sex ratio. Acta Ophthalmol 1989;67:609-16.
12. Ryan SJ. Congressional testimony in support of the Citizen's Budget Proposal for the National Eye Institute, 1994.
13. Young RW. Pathophysiology of age-related macular degeneration. Surv Ophthalmol 1987;31:291-306.
14. Melrose MA, Magargal LE, Lucier AC. Identical twins with subretinal neovascularization complicating senile macular generation. Ophthalmic Surg 1985;16:648-51.
15. Hyman LG, Lilienfeld AM, Ferris FL, Fine SL. Senile macular degeneration: a case-control study. Am J Epidemiol 1983;118:213-27.
16. Meyers SM, Zachary AA. Monozygotic twins with age-related macular degeneration. Arch Ophthalmol 1988;106:651-3.
17. Gass JDM. Drusen and disciform macular detachment and degeneration. Arch Ophthalmol 1973;90:206-17.
18. Seddon JM, Ajani UA, Sperduto RD, Hiller R, Blair N, Burton TC, et al. Dietary carotenoids, vitamins A, C, and E and advanced age-related macular degeneration. JAMA 1994;272:1413-20.
19. Vingerling JR, Dielemans I, Bots ML, Hofman A, Grobbee DE, deJong PTVM. Age-related macular degeneration is associated with atherosclerosis. The Rotterdam study. Am J Epidemiol 1995;142:404-9.
20. Merin S. Inherited macular diseases. In: Inherited eye diseases: diagnosis and clinical management. New York: Dekker, 1991:137-75.
21. Noble KG. Hereditary macular dystrophies. In: Renie WA, ed. Goldberg's genetic and metabolic eye disease. Boston: Little, Brown, 1986:439-64.
22. Keithahn MAZ, Huang M, Keltner JL, Small KW, Morse LS. The variable expressivitiy of a family with central areolar pigment epithelial dystrophy. Ophthalmol 1996;103:406-15.
23. Bird AC. Retinal photoreceptor dystrophies. LI. Edward Jackson memorial lecture. Am J Ophthalmol 1995;119:543-62.
24. Travis GH, Hepler JE. A medley of retinal dystrophies. Nat Genet 1993;3:191-2.
25. Daiger SP, Sullivan LS, Rodriguez JA. Correlation of phenotype with genotype in inherited retinal degeneration. Behav Brain Sci 1995;18:452-67.
26. Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM. Phenotypic variation including retinitis pigmemosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Arch Ophthalmol 1993;111:1531-42.
27. Musarella MA. Gene mapping of ocular diseases. Surv Ophthalmol 1992;36: 285-312.
28. Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J, Millasseau P, et al. A second generation linkage map of the human genome. Nature 1992;359: 794-801.
29. National Institutes of Health/Centre d'rude du Polymorphisme Humain Collaborative Group. A comprehensive genetic linkage map of the human genome. Science 1992;258:67-86.
30. Nakamura Y, Leppert M, O'Connel P, Wolff R, Holm T, Culver M, et al. Variable number of tandem repeat (VNTR) markers for human gene mapping. Science 1987;235:1616-22.
31. Collins FS. Positional cloning: let's not call it reverse anymore. Nat Genet 1992;1:3-6.
32. Zhu DP, Antonarakis SE, Schmeckpeper BJ, Diergaarde PJ, Greb AE, Maumenee IH. Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease. Am J Med Genet 1989;33:485-8.
33. Nussbaum RL, Lewis RA, Lesko JG, Ferrell R. Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at Xq13-21. Am J Hum Genet 1985;37:473-81.
34. Bird AC. Investigation of disease mechanisms in retinitis pigmentosa. Ophthalmic Paediatr Gen 1992;13:57-66.
35. Humphries P, Kenna P, Farrar GJ. On the molecular genetics of retinitis pigmentosa. Science 1992;256:804-8.
36. McWilliam P, Farrar GJ, Kenna P, Bradley DG, Humphries MM, Sharp EM, et al. Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3. Genomics 1989;5:619-22.
37. Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, Vandell DW, et al. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 1990;343:364-6.
38. Lefler WH, Wadsworth JAC, Sidbury JB Jr. Hereditary macular degeneration and amino-aciduria. Am J Ophthalmol 1971;71:224-30.
39. Small KW, Killian J, McLean WC. North Carolina's dominant progressive foveal dystrophy: how progressive is it? Br J Ophthalmol 1991;75:401-6.
40. Small KW, Hermsen V, Gurney N, Fetkenhour CL, Folk JC. North Carolina macular dystrophy and central areolar pigment epithelial dystrophy. Arch Ophthalmol 1992;110:515-8.
41. Tranebjaerg L, Sjo O, Warburg M. Retinal cone dysfunction and mental retardation associated with a de novo balanced translocation 1;6 (q44D7). Am J Ophthalmol 1986;106:167-73.
42. Hagemeijer A, Hoovers J, Smit EME, Bootsma D. Replication pattern of the X chromosome in three X/autosomal translocations. Cytogenet Cell Genet 1977;18:333-48.
43. Milosevic J, Kalicamin P. Long arm deletion of chromosome 6 in a mentally retarded boy with multiple physical malformations. J Ment Def Res 1975;129:139-44.
44. Holz FG, Evans K, Gregory CY, Bhattacharya S, Bird AC. Autosomal dominant macular dystrophy simulating North Carolina macular dystrophy. Arch Ophthalmol 1995;113:178-84.
45. Sorsby A, Mason MEJ, Gardener N. A fundus dystrophy with unusual features. Br J Ophthalmol 1949;96:67-97.
46. Weber BHF, Vogt G, Wolz W, Ives EJ, Ewing CC. Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter. Nat Genet 1994;7:158-60.
47. Carrero-Valenzuela RF, Klein ML, Welber RG, Murphey WH. Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3. Arch Ophthalmol 1996;114:737-8.
48. Jacobson SG, Cideciyan AV, Gopalkrishnan R, Rodriguez FJ, Vandenburgh K, Sheffield VC, et al. Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. Nat Genet 1995;11:27-32.
49. Carpenter TO, Pettifor JM, Russell RM, Pitha J, Mobarhan S, Ossip MS, et al. Severe hypervitaminosis A in siblings: evidence of variable tolerance to retinal intake. J Pediatr 1987;111:507-12.
50. Stargardt K. ber familiare progressive Degeneration in der Makulagegend des Auges. Albrecht von Graefes Arch Klin Ophthalmol 1909;71:534.
51. Delori FC, Staurenghi G, Arend O, Dorey K, Goger DG, Weiter JJ. In vivo measurement of lipofuscin in Stargardt's disease - fundus flavimaculatus. Invest Ophthalmol Vis Sci 1995;36:2327-31.
52. Franceschetti A. Fundus flavimaculatus. Arch Ophtalmol (Paris) 1965;25: 505-30.
53. Franceschetti A. Ueber tapeto-retinale Degenerationen im Kindesalter, in von Sautter H, ed. Entwicklung und Fortschritt in der Augenheilkunde. Stuttgart, Germany: Enke Verlag, 1963:107-20.
54. Cibis GW, Morey M, Harris DJ. Dominantly inherited macular dystrophy with flecks (Stargardt). Arch Ophthalmol 1980;98:1785-9.
55. Puech B, Hache JC, Turut P, Franois P. X-Shaped macular dystrophy with flavimaculatus flecks. Ophthalmologica 1989;199:146-57.
56. Lopez PF, Maumenee IH, Cruz Z, Green WR. Autosomal-dominant fundus flavimaculatus. Ophthalmology 1990;97:798-809.
57. Mansour AM. Long-term follow-up of dominant macular dystrophy with flecks (Stargardt). Ophthalmologica 1992;205:138-43.
58. Zhang K, Bither PP, Donoso LA. Exclusion of chromosome 11q13 region as a genetic locus responsible for autosomal dominant Stargardt's disease. Am J Ophthalmol 1994;117:545-6.
59. Best F. Uber eine hereditar Makulaaffektion. Beitrage zur Vererbungslehre. Z Augenheilkd 1905;13:199-212.
60. Blodi CF, Stone EM. Best's vitelliform dystrophy. Ophthalmic Gen 1990;11: 49-59.
61. Forsman K, Graff C, Nordstrom SK, Johansson K, Westermark E, Lundgren E, et al. The gene for Best's macular dystrophy is located at 11q13 in a Swedish family. Clin Genet 1992;42:156-9.
62. Nichols BE, Bascom R, Litt M, McInnes R, Sheffield VC, Stone EM. Refining the locus for Best's vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1. Am J Hum Genet 1994;54:95-103.
63. Bascom RA, Manara S, Collins L, Molday RS, Kalnins VI, McInnes RR. Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies. Neuron 1992;8:1171-84.
64. Deutman AF, Blommestein JDA van, Henkes HE, Waardenburg PJ, Solleveld-van Driest E. Butterfly-shaped pigment dystrophy of the fovea. Arch Ophthalmol 1970;83:558-69.
65. Gass JDM. A clinicopathologic study of a peculiar foveomacular dystrophy. Trans Am Ophthalmol Soc 1974;72:139-55.
66. Marmor MF, Byers B. Pattern dystrophy of the pigment epithelium. Am J Ophthalmol 1977;84:32-44.
67. Hsieh RC, Fine BS, Lyons JS. Patterned dystrophies of the retinal pigment epithelium. Arch Ophthalmol 1977;95:429-35.
68. Travis GH, Brennan MB, Danielson PE, Kozak CA, Sutcliffe JG. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature 1989;338:70-3.
69. Farrar JF, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp EM, et al. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature 1990;365:478-80.
70. Kajiwara K, Hahn LB, Mukai S, Travis GH, Berson EL, Dryja TP. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 1991;364:480-3.
71. Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet 1993;3:202-7.
72. Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nature Genet 1993;3:213-8.
73. Nichols BE, Drack AV, Vandenburgh K, Kimura AE, Sheffield VC, Stone EE. A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. Hum Mol Genet 1993;2:601-3.
74. Evans K, Gregory CY, Kermani S, et al. Genetic linkage of the gene responsible for Doyne's honeycomb retinal dystrophy to chromosome 2p. Oxford Ophthalmology Congress. (Poster 19). Oxford, July 1996.
75. Heon E, Piguet B, Munier F, Sneed SR, Morgan CM, Forni S, et al. Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. Arch Ophthalmol 1996;114:193-8.
76. Kremer H, Pinckera A, van den Helm B, Deutman AF, Ropers, HH, Mariman ECM. Localization of the gene for dominant cysroid macular dystrophy on chromosome 7p. Hum Mol Genet 1994;3:299-302.
77. Ferrell RE, Hittner HM, Antaszyk JH. Linkage of atypical vitelliform macular dystrophy (VMD-1) to the soluble glutamate pyruvate transaminase (GPT1) locus. Am J Hum Genet 1983;35:78-84.
78. Kylstra JA, Aylsworth AS. Cone-rod retinal dystrophy in a patient with neurofibromatosis type 1. Can J Ophthalmol 1993;28:79-80.
79. Warburg M, Sjo O, Tranebjaerg L, Fledelius HC. Deletion mapping of a retinal cone-rod dystrophy. Assignment to 18q-211. Am J Med Genet 1991; 39:288-93.
80. Evans K, Fryer A, Inglehearn C, Duvall-Young J, Whittaker JL, Gregory CY, et al. Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. Nat Genet 1994;6:210-3.
81. Meire FM, Berge AAB, De Rouck A, Leys M, Delleman JW. X-linked progressive cone dystrophy: localisation of the gene locus to Xp21-p11.1 by linkage analysis. Br J Ophthalmol 1994;78:103-8.