Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy

Molecular Vision

Volumn 16, Issue , 2010, Pages 2659-2668

  Rosenberg, Thomas ^a,b   Roos, Ben ^c   Johnsen, Thorkild ^a   Bech, Niels ^a   Scheetz, Todd E ^c   Larsen, Michael ^a,b,d   Stone, Edwin M ^c,e   Fingert, John H ^c  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b Gordon Norrie Center of Genetic Eye Diseases   (Denmark)

^c UNIVERSITY OF IOWA   (United States)

^d UNIVERSITY OF COPENHAGEN   (Denmark)

^e HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 6Q; CLINICAL ARTICLE; COLOR VISION TEST; DARK ADAPTATION; DENMARK; ELECTRORETINOGRAM; EYE PHOTOGRAPHY; FEMALE; GENE LOCUS; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC MARKER; GENOTYPE; HAPLOTYPE; HUMAN; MALE; NORTH CAROLINA MACULAR DYSTROPHY; OPTICAL COHERENCE TOMOGRAPHY; PEDIGREE; PERIMETRY; PHENOTYPE; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; SHORT TANDEM REPEAT; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED STATES;

ADOLESCENT; ADULT; CHROMOSOMES, HUMAN, PAIR 5; CORNEAL DYSTROPHIES, HEREDITARY; DENMARK; FAMILY; FEMALE; FLUORESCENCE; FUNDUS OCULI; GENETIC LINKAGE; HUMANS; MALE; PEDIGREE; PHENOTYPE; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 78650798168     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (34)

1. Lefler WH, Wadsworth JAC, Sidbury JB. Hereditary macular degeneration and amino-aciduria. Am J Ophthalmol 1971 71224305100467 [PubMed: 5100467]
2. Small KW, Hermsen V, Gurney N, Fetkenhour CL, Folk JC. North Carolina macular dystrophy and central areolar pigment epithelial dystrophy. One family, one disease. Arch Ophthalmol 1992; 110:515-8. [PMID: 1562260]
3. Frank HR, Landers MB, Williams RJ, Sidbury JB. A New dominant Progressive Foveal Dystrophy. Am J Ophthalmol 1974; 78:903-16. [PMID: 4440724]
4. Hermsen VM, Judisch GF. Central areolar pigment epithelial dystrophy. Ophthalmologica 1984; 189:69-72. [PMID: 6472809]
5. Small KW. North Carolina macular dystrophy: clinical features, genealogy, and genetic linkage analysis. Trans Am Ophthalmol Soc 1998; 96:925-61. [PMID: 10360311]
6. Reichel MB, Kelsell RE, Fan J, Gregory CY, Evans K, Moore AT, Hunt DM, Fitzke FW, Bird AC. Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q. Br J Ophthalmol 1998; 82:1162-8. [PMID: 9924305]
7. Pauleikhoff D, Sauer CG, Muller CR, Radermacher M, Merz A, Weber BH. Clinical and genetic evidence for autosomal dominant North Carolina macular dystrophy in a German family. Am J Ophthalmol 1997; 124:412-5. [PMID: 9439376]
8. Small KW, Puech B, Mullen L, Yelchits S. North Carolina macular dystrophy phenotype in France maps to the MCDR1 locus. Mol Vis 1997; 3:1. [PMID: 9238090]
9. Rabb MF, Mullen L, Yelchits S, Udar N, Small KW. A North Carolina macular dystrophy phenotype in a Belizean family maps to the MCDR1 locus. Am J Ophthalmol 1998; 125:502-8. [PMID: 9559736]
10. Kim SJ, Woo SJ, Yu HG. A Korean family with an early-onset autosomal dominant macular dystrophy resembling North Carolina macular dystrophy. Korean J Ophthalmol 2006; 20:220-4. [PMID: 17302207]
11. Small KW. North Carolina Macular Dystrophy, Revisted. Ophthalmology 1989; 96:1747-54. [PMID: 2622620]
12. Small KW, Killian J, McLean WC. North Carolina's dominant progressive foveal dystrophy: how progressive is it? Br J Ophthalmol 1991; 75:401-6. [PMID: 1854692]
13. Szlyk JP, Paliga J, Seiple W, Rabb MF. Comprehensive functional vision assessment of patients with North Carolina macular dystrophy (MCDR1). Retina 2005; 25:489-97. [PMID: 15933597]
14. Rohrschneider K, Blankenagel A, Kruse FE, Fendrich T, Volcker HE. Macular function testing in a German pedigree with North Carolina macular dystrophy. Retina 1998; 18:453-9. [PMID: 9801043]
15. Small KW, Weber JL, Hung W-Y, Vance J, Roses A, Pericak-Vance M. North Carolina Macular Dystrophy: Exclusion Map Using RFLPs and Microsatellites. Genomics 1991; 11:763-6. [PMID: 1685483]
16. Small KW, Weber JL, Roses A, Lennon F, Vance JM, Pericak-Vance MA. North Carolina macular dystrophy is assigned to chromosome 6. Genomics 1992; 13:681-5. [PMID: 1639395]
17. Small KW, Udar N, Yelchits S, Klein R, Garcia C, Gallardo G, Puech B, Puech V, Saperstein D, Lim J, Haller J, Flaxel C, Kelsell R, Hunt D, Evans K, Lennon F, Pericak-Vance M. North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis. Mol Vis 1999; 5:38. [PMID: 10617775]
18. Yang Z, Tong Z, Chorich LJ, Pearson E, Yang X, Moore A, Hunt DM, Zhang K. Clinical characterization and genetic mapping of North Carolina macular dystrophy. Vision Res 2008; 48:470-7. [PMID: 17976682]
19. Michaelides M, Johnson S, Tekriwal AK, Holder GE, Bellmann C, Kinning E, Woodruff G, Trembath RC, Hunt DM, Moore AT. An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5. Invest Ophthalmol Vis Sci 2003:2178-83. [PMID: 12714659]
20. Francis PJ, Johnson S, Edmunds B, Kelsell RE, Sheridan E, Garrett C, Holder GE, Hunt DM, Moore AT. Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss. Br J Ophthalmol 2003; 87:893-8. [PMID: 12812894]
21. Stefko ST, Zhang K, Gorin MB, Traboulsi EI. Clinical spectrum of chromosome 6-linked autosomal dominant drusen and macular degeneration. Am J Ophthalmol 2000; 130:203-8. [PMID: 11004295]
22. Marmor MF, Zrenner E. Standard for clinical electroretinography (1994 update). Doc Ophthalmol 1995; 89:199-210. [PMID: 7555587]
23. Héon E, Piguet B, Munier F, Sneed SR, Morgan CM, Forni S, Pescia G, Schorderet D, Taylor CM, Streb LM. Wiles, C.D., Nishimura, D.Y., Sheffield, V.C., Stone, E.M. Linkage of Autosomal Dominant Radial Drusen (Malattia Leventinese) to Chromosome 2p16-21. Arch Ophthalmol 1996; 114:193-8. [PMID: 8573024]
24. Bassam BJ, Caetano-Anolles G, Gresshoff PM. Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem 1991; 196:80-3. [PMID: 1716076]
25. Hoffmann K, Lindner TH. easyLINKAGE-Plus-automated linkage analyses using large-scale SNP data. Bioinformatics 2005; 21:3565-7. [PMID: 16014370]
26. Cottingham RW Jr, Idury RM, Schaffer AA. Faster sequential genetic linkage computations. Am J Hum Genet 1993; 53:252-63. [PMID: 8317490]
27. Schäffer AA, Gupta SK, Shriram K, Cottingham RW Jr. Avoiding recomputation in linkage analysis. Hum Hered 1994; 44:225-37. [PMID: 8056435]
28. Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984; 36:460-5. [PMID: 6585139]
29. Small KW, Voo I, Flannery J, Udar N, Glasgow BJ. North Carolina macular dystrophy: clinicopathologic correlation. Trans Am Ophthalmol Soc 2001; 99:233-7. [PMID: 11797312]
30. Voo I, Glasgow BJ, Flannery J, Udar N, Small KW. North Carolina macular dystrophy: clinicopathologic correlation. Am J Ophthalmol 2001; 132:933-5. [PMID: 11730667]
31. Khurana RN, Sun X, Pearson E, Yang Z, Harmon J, Goldberg MF, Zhang K. A Reappraisal of the Clinical Spectrum of North Carolina Macular Dystrophy. Ophthalmology 2009; 116:1976-83. [PMID: 19616854]
32. Steinmetz RL, Garner A, Maguire JI, Bird AC. Histopathology of incipient fundus flavimaculatus. Ophthalmology 1991; 98:953-6. [PMID: 1866150]
33. Solbach U, Keilhauer C, Knabben H, Wolf S. Imaging of retinal autofluorescence in patients with age-related macular degeneration. Retina 1997; 17:385-9. [PMID: 9355185]
34. Wakabayashi T, Sawa M, Gomi F, Tsujikawa M. Correlation of fundus autofluorescence with photoreceptor morphology and functional changes in eyes with retinitis pigmentosa. Acta Ophthalmol 2010; 88:e177-83. [PMID: 20491687]