Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci

Investigative Ophthalmology and Visual Science

Volumn 41, Issue 1, 2000, Pages 248-255

  Griesinger, Irina B ^a   Sieving, Paul A ^a   Ayyagari, Radha ^a  

^a UNIVERSITY OF MICHIGAN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 6Q; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; ELECTRORETINOGRAPHY; GENE MAPPING; HAPLOTYPE; HUMAN; PRIORITY JOURNAL; RETINA FLUORESCEIN ANGIOGRAPHY; RETINA MACULA DEGENERATION;

ADOLESCENT; ADULT; ATROPHY; CHOROID DISEASES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 6; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENOTYPE; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MACULA LUTEA; MACULAR DEGENERATION; MALE; MIDDLE AGED; PEDIGREE; PHOTORECEPTORS, VERTEBRATE; VISUAL ACUITY;

EID: 0033987580     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (29)

1. Mah DY, Wong PW, Edwards A, MacDonald IM. Recent advances in the genetics of macular dystrophies. Can J Ophthalmol. 1998; 33:135-143.
2. Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM. Phenotypic variation including retinitis pigmentosa, 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;111:1531-1542.
3. Uliss AE, Moore AT, Bird AC. The dark choroid in posterior retinal dystrophies. Ophthalmology. 1987;94:1423-1427.
4. Payne AM, Downes SM, Bessant DA, Bird AC, Bhattacharya SS. Founder effect, seen in the British population, of the 172 peripherin/ RDS mutation and further refinement of genetic positioning of the peripherin/RDS gene. Am J Hum Genet. 1998;62:192-195.
5. Ruiz A, Borrego S, Marcos I, Antinolo G. A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters. Am J Hum Genet. 1998;62: 1452-1459.
6. 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;112:765-772.
7. Edwards OA, Miedziak A, Vrabec T, et al. Autosomal dominant Stargardt-like macular dystrophy, I: clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14 [abstract]. Am J Ophthalmol. 1999; 127:426-435.
8. Kelsell RE, Gregory-Evans K, Gregory CY, et al. Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q. Am J Hum Genet. 1998;63:274-279.
9. Kelsell RE, Godley BF, Evans K, et al. Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q. Hum Mol Genet. 1995;4:1653-1656.
10. Small KW, Weber JL, Roses A, Lennon F, Vance JM, Pericak-Vance MA. North Carolina macular dystrophy is assigned to chromosome 6. Genomics. 1992;13:681-685.
11. Sauer CG, Schworm HD, Ulbig M, et al. An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1). J Med Genet. 1997;34:961-966.
12. Birch JM, Chisholm IA, Kinnear P, et al. Clinical testing methods. In: Pokorny J, Smith VC, Verriest G, Pinckers AJLG, eds. Congenital and Acquired Color Vision Defects. London: Academic Press: 1979:83-135.
13. Padma T, Ayyagari R, Murty JS, et al. Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12. Am J Hum Genet. 1995;57:840-845.
14. Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984;36:460-465.
15. Small KW, Puech B, Mullen L, Yelchits S. North Carolina macular dystrophy phenotype in France maps to the MCDR1 loucs. Mol Vis. 1997;3:1.
16. Godley BF, Tiffin PA, Evans K, Kelsell RE, Hunt DM, Bird AC. Clinical features of progressive bifocal chorioretinal atrophy: a retinal dystrophy linked to chromosome 6q. Ophthalmology. 1996;103:893-898.
17. Payne AM, Downes SM, Bessant DA, et al. A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. Hum Mol Genet. 1998;7:273-277.
18. Dharmaraj S, Robitaille JM, Zhu D, Li YY, Maumenee IH. An additional locus for Leber's congenital amaurosis maps to chromosome 6 [ARVO Abstract]. Invest Ophthalmol Vis Sci. 1998;39(4): S296. Abstract nr 1354.
19. Lopez PF, Maumenee IH, de la Cruz Z, Green WR. Antosomal-dominant fundus flavimaculatus: clinicopathologic correlation. Ophthalmology. 1990;97:798-809.
20. Sorsby A, Mason ME, Gardener N. A fundus dystrophy with unusual features. Br J Ophthalmol. 1949;33:67-97.
21. Capon MR, Marshall J, Krafft JI, Alexander RA, Hiscott PS, Bird AC. Sorsby's fundus dystrophy: a light and electron microscopic study. Ophthalmology. 1989;96:1769-1777.
22. Vail D, Shoch D. Hereditary degeneration of the macula, II: follow-up report and histopathologic study. Trans Am Ophthalmol Soc. 1965;63:51-63.
23. Allikmets R, Singh N, Sun H, et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997;15:236-246.
24. Weber BH, Vogt G, Pruett RC, Stohr H, Felbor U. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat Genet. 1994;8:352-356.
25. Petrukhin K, Kiosti MJ, Bakall B, et al. Identification of the gene responsible for Best macular dystrophy. Nat Genet. 1998;19:241-247.
26. Weng J, Mata NL, Azarian SM, Tzekov RT, Birch DG, Travis GH. Insights into the function of rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knock-out mice. Cell 1999;98:13-23.
27. Birnbach CD, Jarvelainen M, Possin DE, Milam AH. Histopathology and inimunocytochemistry of the neurosensory retina in fundus flavimaculatus. Ophthalmology. 1994;101:1211-1219.
28. Powis SH, Geraghty DE. What is the MHC? Immunol Today. 1995;16:466-468.
29. Wells J, Wroblewski J, Keen J, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet. 1993;3:213-218.