Thirty-year follow-up of an African American family with macular dystrophy of the retina, locus 1 (North Carolina Macular Dystrophy)

Ophthalmology

Volumn 118, Issue 7, 2011, Pages 1435-1443

  Kiernan, Daniel F ^a   Shah, Rohan J ^a   Hariprasad, Seenu M ^b   Grassi, Michael A ^a   Small, Kent W ^c   Kiernan, Joseph P ^d   Mieler, William F ^a  

^a UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

^c Macula and Retina Institute   (United States)

^d Premier Eye Care and Surgery LTD   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AFRICAN AMERICAN; AGED; AMBLYOPIA; ARTICLE; AUTOFLUORESCENCE; CHROMOSOME 6Q; CLINICAL ARTICLE; CLINICAL EXAMINATION; COHORT ANALYSIS; COLOBOMA; DIVERGENT STRABISMUS; DRUSEN; FEMALE; FOLLOW UP; GENE LOCUS; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC LINKAGE; HUMAN; LASER COAGULATION; MALE; OBSERVATIONAL STUDY; PEDIGREE; PHOTORECEPTOR; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; RETINA MACULA DYSTROPHY LOCUS 1; SHORT TANDEM REPEAT; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; SUBCAPSULAR CATARACT; SUBRETINAL NEOVASCULARIZATION; UNITED STATES; VISUAL ACUITY; VITRECTOMY; VITREOUS HEMORRHAGE;

ADOLESCENT; ADULT; AFRICAN AMERICANS; AGED; AMBLYOPIA; CHOROIDAL NEOVASCULARIZATION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 6; COHORT STUDIES; COLOBOMA; EXOTROPIA; EYE PROTEINS; FEMALE; FOLLOW-UP STUDIES; FUNDUS OCULI; GENETIC LINKAGE; HAPLOTYPES; HUMANS; MACULAR DEGENERATION; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; PEDIGREE; RETINA; SEVERITY OF ILLNESS INDEX; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VITREOUS HEMORRHAGE; YOUNG ADULT;

EID: 79959959901     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2010.10.041     Document Type: Article

References (26)

1. W.H. Lefler, J.A. Wadsworth, and J.B. Sidbury Jr Hereditary macular degeneration and amino-aciduria Am J Ophthalmol 41 1971 224 230
2. J.D. Gass Inherited Macular Disease J.D. Gass, Stereoscopic Atlas of Macular Diseases: Diagnosis and Treatment 3rd ed 1987 Mosby St. Louis, MO 98 99 vol 1
3. Online Mendelian Inheritance in Man [database online]. Macular dystrophy, retinal, 1, North Carolina type; MCDR1:MIM ID 136550. Available at: http://www.ncbi.nlm.nih.gov/omim/136550. Accessed August 9, 2010.
4. K.W. Small North Carolina macular dystrophy, revisited Ophthalmology 96 1989 1747 1754 (Pubitemid 20013632)
5. H.R. Frank, M.B. Landers III, R.J. Williams, and J.B. Sidbury A new dominant progressive foveal dystrophy Am J Ophthalmol 78 1974 903 916
6. K.W. Small, V. Hermsen, and N. Gurney North Carolina macular dystrophy and central areolar pigment epithelial dystrophy: one family, one disease Arch Ophthalmol 110 1992 515 518
7. K.W. Small, J. Killian, and W.C. McLean North Carolina's dominant progressive foveal dystrophy: how progressive is it? Br J Ophthalmol 75 1991 401 406
8. K.W. Small North Carolina macular dystrophy: clinical features, genealogy, and genetic linkage analysis Trans Am Ophthalmol Soc 96 1998 925 961 (Pubitemid 29012935)
9. Z. Yang, Z. Tong, and L.J. Chorich Clinical characterization and genetic mapping of North Carolina macular dystrophy Vision Res 48 2008 470 477 (Pubitemid 351179525)
10. K.W. Small, J.L. Weber, and A. Roses North Carolina macular dystrophy is assigned to chromosome 6 Genomics 13 1992 681 685
11. K.W. Small, J.L. Weber, A. Roses, and P. Pericak-Vance North Carolina macular dystrophy (MCDR1): a review and refined mapping to 6q14-q16.2 Ophthalmic Paediatr Genet 14 1993 143 150 (Pubitemid 24116575)
12. R.N. Khurana, X. Sun, and E. Pearson A reappraisal of the clinical spectrum of North Carolina macular dystrophy Ophthalmology 116 2009 1976 1983
13. W. Seiple, J.P. Szlyk, J. Paliga, and M.F. Rabb Perifoveal function in patients with North Carolina macular dystrophy: the importance of accounting for fixation locus Invest Ophthalmol Vis Sci 47 2006 1703 1709 (Pubitemid 46780784)
14. C.L. Fetkenhour, N. Gurney, J.G. Dobbie, and E. Choromokos Central areolar pigment epithelial dystrophy Am J Ophthalmol 81 1976 745 753
15. S.J. Kim, S.J. Woo, and H.G. Yu A Korean family with an early-onset autosomal dominant macular dystrophy resembling North Carolina macular dystrophy Korean J Ophthalmol 20 2006 220 224
16. D.Y. Rhee, E. Reichel, A. Rogers, and M. Strominger Subfoveal choroidal neovascularization in a 3-year-old child with North Carolina macular dystrophy J AAPOS 11 2007 614 615 (Pubitemid 350251254)
17. C.G. Sauer, H.D. Schworm, and M. Ulbig An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1) J Med Genet 34 1997 961 966 (Pubitemid 27522097)
18. M.F. Rabb, L. Mullen, and S. Yelchits A North Carolina macular dystrophy phenotype in a Belizean family maps to the MCDR1 locus Am J Ophthalmol 125 1998 502 508 (Pubitemid 28236918)
19. D. Pauleikhoff, C.G. Sauer, and C.R. Mller Clinical and genetic evidence for autosomal dominant North Carolina macular dystrophy in a German family Am J Ophthalmol 124 1997 412 415 (Pubitemid 27383115)
20. M.B. Reichel, R.E. Kelsell, and J. Fan Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q Br J Ophthalmol 82 1998 1162 1168 (Pubitemid 28474873)
21. Small KW, Udar N, Yelchits S, et al. North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis. Mol Vis [serial online] 1999;38:38. Available at: http://www.molvis.org/molvis/v5/a38/. Accessed October 17, 2010.
22. A.S. Leveille, P.H. Morse, and J.P. Kiernan Autosomal dominant central pigment epithelial and choroidal degeneration Ophthalmology 89 1982 1407 1413 (Pubitemid 13217682)
23. G. Landa, R.B. Rosen, P.M. Garcia, and W.H. Seiple Combined three-dimensional spectral OCT/SLO and microperimetry: steps toward achieving functional spectral OCT/SLO Ophthalmic Res 43 2010 92 98
24. Small KW, Puech B, Mullen L, Yelchits S. North Carolina macular dystrophy phenotype in France maps to the MCDR1 locus. Mol Vis [serial online] 1997;3:1.Available at: Available at: http://www.molvis.org/molvis/v3/a1/. Accessed October 17, 2010.
25. F.G. Holz, A. Bindewald-Wittich, M. Fleckenstein FAM-Study Group Progression of geographic atrophy and impact of fundus autofluorescence patterns in age-related macular degeneration Am J Ophthalmol 143 2007 463 472
26. K.W. Small, I. Voo, and J. Flannery North Carolina macular dystrophy: clinicopathologic correlation Trans Am Ophthalmol Soc 99 2001 233 238 (Pubitemid 40517533)