Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q

British Journal of Ophthalmology

Volumn 82, Issue 10, 1998, Pages 1162-1168

  Reichel, Martin B ^a   Kelsell, Rosemary E ^a   Fan, Joseph ^a   Gregory, Cheryl Y ^a   Evans, Kevin ^a   Moore, Anthony T ^a   Hunt, David M ^a   Fitzke, Fred W ^a   Bird, Alan C ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHROMOSOME 6Q; CLINICAL ARTICLE; COLOR VISION; CONTROLLED STUDY; ELECTRORETINOGRAM; EYE FIXATION; FAMILY; FEMALE; GENE LOCUS; GENETIC LINKAGE; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; UNITED KINGDOM; VISUAL ACUITY;

EID: 0031669544     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.82.10.1162     Document Type: Article

References (45)

1. Nichols BE, Sheffield VC, Vandenburgh K, et al. Butterfly shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet 993;3:202-7.
2. Wells J, Wroblewski J, Keen TJ, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet 1993;3:213-8.
3. Kim RY, Dollfus H, Keen TJ, et al. Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene. Arch Ophthalmol 1995;113:451-5.
4. Kelsell RE, Godley BF, Evans K, et al. Localisation of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q. Hum Mol Genet 1995;4: 1653-6.
5. Weber BHF, Vogt G, Pruett RC, et al. Mutations in the tissue inhibitor of metalloproteinase-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat Genet 1994;8:352-6.
6. Wijesurija SD, Evans K, Jay MR, et al. Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes. Genome Res 1996;6:92-101.
7. Heon E, Piguet B, Munier F, et al. Linkage of autosomal dominant radial drusen (malatia leventinese) to chromosome 2p16-21. Arch Ophthalmol 1996;114:193-8.
8. Gregory CY, Evans K, Wijesuriya SD, et al. The gene responsible for autosomal dominant Doynes's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16. Hum Mol Genet 1996;5:1055-9.
9. Kaplan J, Gerber S, Larget-Piet D, et al. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet 1993;5:308-1.
10. Zhang K, Either PP, Park R, et al. A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34. Arch Ophthalmol 1994;112:759-64.
11. Stone EM, Nichols BE, Kimura AE, et al. Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol 1994;112:765-72.
12. Joshi AR, Mullen L, Small KW. The retina: genetic studies of several retinopathies located on the short arm of chromosome 17. Curr Opin Neurol 1997;10:31-5.
13. Lefler WH, Wadsworth JAC, Sidbury JB. Hereditary macular degeneration and amino-aciduria. Am J Ophthalmol 1971;71:224-30.
14. Gass JDM. In: Stereoscopic atlas of macular diseases. St Louis: Mosby, 1987.
15. Frank HR, Landers MB, Williams RJ, et al. A new dominant progressive foveal dystrophy. Am J Ophthalmol 1974;78: 903-16.
16. Small KW. North Carolina macular dystrophy, revisited. Ophthalmology 1989;96:1747-54.
17. Small KW, Killian J , McLean WC. North Carolina's dominant progressive foveal dystrophy: how progressive is it? Br J Ophthalmol 1991;75:401-6.
18. Small KW, Hermsen V, Gurney N, et al. North Carolina macular dystrophy and central areolar pigment epithelial dystrophy. Arch Ophthalmol 1992;110:515-8.
19. Small KW, Weber J, Roses A, et al. North Carolina macular dystrophy is assigned to chromosome 6. Genomics 1992;13: 681-5.
20. Small KW, Weber J, Roses A, et al. North Carolina macular dystrophy (MCDR1). A review and refined mapping to 6q14-q16.2. Ophthal Paed Genet 1993;14:143-50.
21. Rabb M, Mullen L, Yelchits S, et al. Belize macular dystrophy maps to chromosome 6q16 (the north Carolina macular dystrophy locus, MCDR1). Invest Ophthalmol Vis Sci 1995;36(Suppl):892.
22. Garcia CA, Gallardo G, Mullen L, et al. A new North Carolina macular dystrophy (MCDR1) family in Texas maps to chromosome 6q16. Invest Ophthalmol Vis Sci 1995; 36(Suppl):892.
23. Yechits S, Puech B, Mullen L, et al. A new French family with the North Carolina macular dystrophy phenotype maps to the MCDR1 locus. Am J Hum Genet 1996;59: A391.
24. Weisz JM, Puech B, Mullen L, et al. North Carolina macular dystrophy (MCDR1) in France, evidence of genetic heterogeneity. Invest Ophthalmol Vis Sci 1995;36(Suppl): 1064.
25. Small KW, Puech B, Mullen L, et al. North Carolina macular dystrophy phenotype in France maps to the MCDR1 locus. Mol Vis 1997;3:1.
26. Arden GB, Carter RM, Hogg CR, et al. A modified ERG technique and the results obtained in x-retinitis pigmentosa. Br J Ophthalmol 1983;67:419-30.
27. Weinstein GW, Arden GB, Hitchings RA, et al. The pattern electroretinogram (PERG) in ocular hypertension and glaucoma. Arch Ophthalmol 1988;106:923-9.
28. Arden GB, Barrada A, Kelsey JH. A new clinical test of retinal function based upon the standing potential of the eye. Br J Ophthalmol 1962;46:449-67.
29. Arden GB, Gunduz K, Perry S. Colour vision testing with a computer graphics system. Clin Vis Sci 1988;2:303-20.
30. Chen JC, Fitzke FW, Pauleikoff D, et al. Functional loss in age-related Bruch's membrane change with choroidal perfusion defect. Invest Ophthalmol Vis Sci 1992;33:334-9.
31. Jacobson SG, Voigt WJ, Parel JM, et al. Automated light-and dark-adapted perimetry for evaluating retinitis pigmentosa. Ophthalmology 1986;93:1604-11.
32. Steinmetz RL, Haimovici R, Jubb C, et at. Symptomatic abnormalities of dark adaptation in patients with age-related Bruch's membrane change. Br J Ophthalmol 1993;77:549-54.
33. Chuang EL, Sharp DM, Fipke FW, et al. Retinal dysfunction in central serous retinopathy. Eye 1987;1:20-5.
34. Attwood J, Bryant SA. A computer program to make analysis with LIPED and LINKAGE easier to perform and less prone to input errors. Am J Hum Genet 1988;52:259.
35. Lathrop GM, Lalouel JM, Julier C, et al. Strategies for multipoint linkage analysis in humans. Proc Nat Acad Sci USA 1984;81:3443-6.
36. Millodot M. Foveal and extra-foveal acuity with and without stabilized retinal images. Br J Physiol Opt 1966;23:75-106.
37. Wertheim T. Über die indirekte Sehschärfe. Zft f Sinnesphysiol 1894;7:172-89.
38. Paschen W, Blackstone CD, Huganir RL, et al. Human GluR6 kainate receptor (GRIK2): molecular cloning, expression, polymorphism and chromosomal assignment. Genomics 1994;20:435-40.
39. Sander T, Janz D, Ramel C, et al. Refinement of the map of position of human GluR6 kainate receptor gene (GIK2) and lack of association and linkage with idiopathic generalized epilepsies. Neurology 1995;45:1713-20.
40. Chumakov IM, Rigault P, Le Gall I, et al. A YAG contig map of the human genome. Nature 1995;377(Suppl 28):p175.
41. Peng Y-W, Blackstone CD, Huganir RL, et al. Distribution of glutamate receptor subtypes in the vertebrate retina. Neuroscience 1995;66:483-97.
42. Weingeist TA, Kobrin JL, Watzke RC. Histopathology of Best's macular dystrophy. Arch Ophthalmol 1982;100: 1108-14.
43. Steinmetz RL, McGuire J, Garner A, et al. Histopathology of incipient fundus flavimaculatus. Ophthalmology 1991;98: 953-6.
44. Steinmetz RL, Polkinghorne PC, Fitzke FW, et al. Abnormal dark adaptation and rhodopsin kinetics in Sorsby's fundus dystrophy. Invest Ophthalmol Vis Sci 1992;33:1633-6.
45. Von Rückmann A, Fitzke FW, Bird AC. In vivo fundus autofluorescence in macular dystrophies. Arch Ophthalmol 1997;115:609-15.