Best Vitelliform Macular Dystrophy (BVMD) is a phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1)

被引:5
作者
Small, Kent W. [1 ,2 ,3 ,4 ]
Jampol, Lee M. [5 ]
Bakall, Benjamin [6 ]
Small, Leslie [7 ]
Wiggins, Robert [8 ]
Agemy, Steven [9 ]
Udar, Nitin [1 ,2 ,3 ,4 ]
Avetisjan, Jessica [1 ,2 ,3 ,4 ]
Vincent, Andrea [10 ]
Shaya, Fadi S. [1 ,2 ,3 ,4 ]
机构
[1] Mol Insight Res Fdn, Dept Ophthalmol, Glendale, CA 91203 USA
[2] Mol Insight Res Fdn, Dept Ophthalmol, Los Angeles, CA USA
[3] Macula & Retina Inst, Dept Ophthalmol, Glendale, CA USA
[4] Macula & Retina Inst, Dept Ophthalmol, Los Angeles, CA USA
[5] Northwestern Univ, Dept Ophthalmol, Feinberg Sch Med, Chicago, IL 60611 USA
[6] Univ Arizona, Dept Ophthalmol, Coll Med, Phoenix, AZ USA
[7] Univ Calif San Francisco, Dept Ophthalmol, San Francisco, CA 94143 USA
[8] Asheville Eye Associates, Dept Ophthalmol, Asheville, NC USA
[9] SUNY Downstate Med Ctr Univ, Dept Ophthalmol, Brooklyn, NY USA
[10] Univ Auckland, New Zealand Eye Ctr, Dept Ophthalmol, Auckland, New Zealand
关键词
Best Vitelliform Macular Dystrophy (BVMD); Best Macular Dystrophy (BMD); North Carolina Macular Dystrophy (NCMD; MCDR1); phenocopy; Electrooculogram (EOG); BEST-DISEASE; VMD2; GENE; MUTATIONS; ELECTROOCULOGRAPHY; DEGENERATION; MCDR1; PHENOTYPE; SPECTRUM; PATIENT;
D O I
10.1080/13816810.2021.2010771
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Purpose North Carolina Macular Dystrophy (NCMD) and Best Vitelliform Macular Dystrophy (BVMD) are rare autosomal dominant macular dystrophies. Both BVMD and NCMD have markedly variable expressivity. In some individuals, it can be difficult to differentiate between the two disease entities. Methods Clinical findings including fundus photography, fundus autofluorescence (FAF), and spectral domain optical coherence tomography (SD-OCT) were evaluated in 5 individuals with NCMD and 3 with BMD. Electrooculography (EOG) was performed in 2 NCMD subjects. Molecular diagnosis was performed using Sanger DNA sequencing. IRB approval was obtained. Results Five NCMD subjects had clinical findings indistinguishable from three of our BVMD subjects. Molecular diagnosis was confirmed in all but one BVMD subject who had an abnormal EOG prior to discovery of the BEST1 gene. Two NCMD subjects had an abnormal EOG with a normal ERG, which has been considered a unique feature of BVMD. SD-OCT in one BVMD subject demonstrated a small lucency/excavation into the choroid similar to that in grade 3 lesions of NCMD. Two NCMD subjects had elevated sub-macular lesions giving a pseudo-vitelliform appearance on OCT similar to BVMD. Conclusion Best Vitelliform Macular Dystrophy can be a phenocopy of NCMD. There is considerable clinical overlap between NCMD and BVMD, which can cause diagnostic inaccuracies. Our new findings demonstrate that like BVMD, NCMD can also have an abnormal EOG with a normal ERG. The overlapping phenotypes of BVMD with NCMD may provide insights into the mechanisms of the macular changes.
引用
收藏
页码:307 / 317
页数:11
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