Macula and Retina Institute Ophthalmology Glendale California and Molecular Insight Research Foundation Ophthalmology Los Angeles and Glendale California USA

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Small KW. North Carolina macular dystrophy: revisited. Ophthalmology 96:1989,1747-54. PubMed DOI

Lefler WH, Wadsworth JAC, Sidbury JB. Hereditary macular degeneration and aminoaciduria. Am J Ophthalmol 1971;71:224-30. PubMed DOI

Frank HR, Landers MB III, Williams RJ, Sidbury JB. A new dominant progressive foveal dystrophy. Am J Ophthalmol 1974;78:903-16. PubMed DOI

Small KW, Weber JL, Hung WY, Vance J, Roses A, Pericak-Vance M. North Carolina macular dystrophy: exclusion map using RFLPs and microsatellites. Genomics 1991;11(3):763-6. doi: 10.1016/0888-7543(91)90087-u PubMed DOI

Small KW, Killian J, McLean WC. North Carolina's dominant progressive foveal dystrophy. How progressive is it? Br J Ophthalmol 1991;75(7):401-6. doi: 10.1136/bjo.75.7.401 PubMed DOI

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(4):515-8. doi: 10.1001/archopht.1992.01080160093040 PubMed DOI

Small KW, Weber JL, Roses AD, Pericak-Vance M North Carolina macular dystrophy maps to chromosome 6. Genomics 1992;681-5. PubMed DOI

Small KW, Weber J, Roses A, Pericak-Vance P. North Carolina macular dystrophy (MCDR1). A review and refined mapping to 6q14-q16.2. Ophthalmic Paediatr Genet 1993;14(4):143-50. doi: 10.3109/13816819309042913 PubMed DOI

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(4):502-8. doi: 10.1016/s0002-9394(99)80191-3 PubMed DOI

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.

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. DOI

Small KW, Garcia CA, Gallardo G, Udar N, Yelchits S. North Carolina macular dystrophy (MCDR1) in Texas. Retina. 1998;18(5):448-52. DOI

Small KW. North Carolina macular dystrophy: clinical features, genealogy, and genetic linkage analysis. Trans Am Ophthalmol Soc 1998;96:925-61. PubMed

Small KW, Agemy S, Shaya FS. Terminology of MCDR1: What's in a Name? JAMA Ophthalmol 2016;134(4):355-6. doi: 10.1001/jamaophthalmol.2015.4978 PubMed DOI

Small KW, Tran EM, Small L, Rao RC, Shaya F. Multimodal Imaging and Functional Testing in a North Carolina Macular Disease Family: Toxoplasmosis, Fovea Plana, and Torpedo Maculopathy Are Phenocopies. Ophthalmol Retina 2019;3(7):607-14. doi: 10.1016/j.oret.2019.03.002 PubMed DOI

Small KW, Vincent AL, Knapper CL, Shaya FS. Congenital toxoplasmosis as one phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1). Am J Ophthalmol Case Rep 2019;15:100521. doi: 10.1016/j.ajoc.2019.100521 PubMed DOI

Small KW, Van de Sompele S, Nuytemans K, Vincent A, Yuregir OO, Ciloglu E, Sariyildiz C, Rosseel T, Avetisjan J, Udar N, Vance JM, Pericak-Vance MA, De Baere E, Shaya FS. A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1). Mol Vis 2021;27:518-27.

Small KW, Wiggins R, Udar N, Silva-Garcia R, Avetisjan J, Vincent A, Shaya FS. North Carolina Macular Dystrophy (NCMD/MCDR1): Long-term follow-up of the original family. Ophthalmol Retina 2022;6(6):512-19. doi: 10.1016/j.oret.2022.02.003 PubMed DOI

Small KW, Jampol LM, Bakall B, Small L, Wiggins R, Agemy S, Udar N, Avetisjan J, Vincent A, Shaya FS. Best Vitelliform Macular Dystrophy (BVMD) is a phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1). Ophthalmic Genet 2022;43:307-17. doi: 10.1080/13816810.2021.2010771 PubMed DOI

Small KW, DeLuca AP, Whitmore SS, Rosenberg T, Silva-Garcia R, Udar N, Puech B, Garcia CA, Rice TA, Fishman GA, Héon E, Folk JC, Streb LM, Haas CM, Wiley LA, Scheetz TE, Fingert JH, Mullins RF, Tucker BA, Stone EM. North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13. Ophthalmology 2016;123(1):9-18. doi: 10.1016/j.ophtha.2015.10.006 PubMed DOI

van de Sompele S, Small KW, Cicekdal MB, Soriano VL, D'haene E, Shaya FS, Agemy S, van der Snickt T, Rey AD, Rosseel T, van Heetvelde M, Vergul S, Balikova I, Bergen AA, Boon CJF, de Zaeytijd J, Inglehearn CF, Kousal B, Leroy BP, Rivolta C, Vaclavik V, van den Ende J, van Schooneveld MJ, Gómez-Skarmeta JL, Tena JJ, Martinez-Morales JR, Liskova P, Vleminck K, de Baere E. Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy. bioRxiv preprint 2022.03.08.481329. this version posted July 26, 2022, doi: https://doi.org/10.1101/2022.03.08.481329 DOI

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(7):893-8. doi: 10.1136/bjo.87.7.893 PubMed DOI