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1998 4
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North Carolina macular dystrophy shows a particular drusen phenotype and atrophy progression.
Birtel J, Gliem M, Herrmann P, Neuhaus C, Holz FG, MacLaren RE, Scholl HPN, Charbel Issa P. Birtel J, et al. Br J Ophthalmol. 2022 Sep;106(9):1269-1273. doi: 10.1136/bjophthalmol-2021-318815. Epub 2021 Mar 30. Br J Ophthalmol. 2022. PMID: 33785507
BACKGROUND/AIM: To provide a comprehensive multimodal retinal imaging characterisation of patients with North Carolina macular dystrophy (NCMD). METHODS: Clinical evaluation and retinal imaging in six families. ...
BACKGROUND/AIM: To provide a comprehensive multimodal retinal imaging characterisation of patients with North Carolina macu …
North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants.
Green DJ, Lenassi E, Manning CS, McGaughey D, Sharma V, Black GC, Ellingford JM, Sergouniotis PI. Green DJ, et al. Invest Ophthalmol Vis Sci. 2021 Jun 1;62(7):16. doi: 10.1167/iovs.62.7.16. Invest Ophthalmol Vis Sci. 2021. PMID: 34125159 Free PMC article.
PURPOSE: North Carolina macular dystrophy (NCMD) is an autosomal dominant, congenital disorder affecting the central retina. ...
PURPOSE: North Carolina macular dystrophy (NCMD) is an autosomal dominant, congenital disorder affecting the cen …
The possible pathogenesis of macular caldera in patients with North Carolina macular dystrophy.
Zhu Z, Zou H, Li C, Tong B, Zhang C, Xiao J. Zhu Z, et al. BMC Ophthalmol. 2022 Nov 19;22(1):447. doi: 10.1186/s12886-022-02655-w. BMC Ophthalmol. 2022. PMID: 36402981 Free PMC article.
BACKGROUND: This study provides a detailed description of a Chinese family with North Carolina macular dystrophy (NCMD) and explores its possible pathogenesis. ...
BACKGROUND: This study provides a detailed description of a Chinese family with North Carolina macular dystrophy …
Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy.
Nekolova J, Stepanov A, Kousal B, Stredova M, Jiraskova N. Nekolova J, et al. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2022 Dec;166(4):418-427. doi: 10.5507/bp.2021.037. Epub 2021 Jun 22. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2022. PMID: 34158671 Free article.
AIMS: We present a familial hereditary macular dystrophy, resembling North Carolina Macular Dystrophy. In members of a family, we describe the development of diagnostic-therapeutic approaches and their impact on the prognosis of those whose vision was …
AIMS: We present a familial hereditary macular dystrophy, resembling North Carolina Macular Dystrophy. In member …
North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene.
Bowne SJ, Sullivan LS, Wheaton DK, Locke KG, Jones KD, Koboldt DC, Fulton RS, Wilson RK, Blanton SH, Birch DG, Daiger SP. Bowne SJ, et al. Mol Vis. 2016 Oct 17;22:1239-1247. eCollection 2016. Mol Vis. 2016. PMID: 27777503 Free PMC article.
PURPOSE: To identify the underlying cause of disease in a large family with North Carolina macular dystrophy (NCMD). METHODS: A large four-generation family (RFS355) with an autosomal dominant form of NCMD was ascertained. ...
PURPOSE: To identify the underlying cause of disease in a large family with North Carolina macular dystrophy (NC …
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.
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. Small KW, et al. Ophthalmology. 2016 Jan;123(1):9-18. doi: 10.1016/j.ophtha.2015.10.006. Epub 2015 Oct 24. Ophthalmology. 2016. PMID: 26507665 Free PMC article.
PURPOSE: To identify specific mutations causing North Carolina macular dystrophy (NCMD). DESIGN: Whole-genome sequencing coupled with reverse transcription polymerase chain reaction (RT-PCR) analysis of gene expression in human retinal cells. ...
PURPOSE: To identify specific mutations causing North Carolina macular dystrophy (NCMD). DESIGN: Whole-genome se …
CHOROIDAL NEOVASCULARIZATION IN NORTH CAROLINA MACULAR DYSTROPHY RESPONSIVE TO ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR THERAPY.
Bakall B, Bryan JS 3rd, Stone EM, Small KW. Bakall B, et al. Retin Cases Brief Rep. 2021 Sep 1;15(5):509-513. doi: 10.1097/ICB.0000000000000838. Retin Cases Brief Rep. 2021. PMID: 30383557
PURPOSE: To report a new family with North Carolina macular dystrophy including a patient with choroidal neovascularization (CNV). ...Molecular analysis of the PRDM13 gene revealed a pathogenic heterozygous point mutation. CONCLUSION: Recognition and t …
PURPOSE: To report a new family with North Carolina macular dystrophy including a patient with choroidal neovasc …
Clinical characterization and genetic mapping of North Carolina macular dystrophy.
Yang Z, Tong Z, Chorich LJ, Pearson E, Yang X, Moore A, Hunt DM, Zhang K. Yang Z, et al. Vision Res. 2008 Feb;48(3):470-7. doi: 10.1016/j.visres.2007.09.015. Epub 2007 Oct 31. Vision Res. 2008. PMID: 17976682 Free PMC article.
North Carolina macular dystrophy (NCMD) is an autosomal dominant macular disease, was mapped to 6q14-q16.2, the disease-causing gene has yet not been identified. ...
North Carolina macular dystrophy (NCMD) is an autosomal dominant macular disease, was mapped to 6q14-q16.2, the …
North Carolina macular dystrophy: clinical features, genealogy, and genetic linkage analysis.
Small KW. Small KW. Trans Am Ophthalmol Soc. 1998;96:925-61. Trans Am Ophthalmol Soc. 1998. PMID: 10360311 Free PMC article.
PURPOSE: To study the North Carolina macular dystrophy phenotype (MCDR1) in multiple families of different ethnic backgrounds, to determine the genetic relationships of these families, and to determine the minimal candidate region of the MCDR1 gene. .. …
PURPOSE: To study the North Carolina macular dystrophy phenotype (MCDR1) in multiple families of different ethni …
29 results