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

Small, Kent W.; Jampol, Lee M.; Bakall, Benjamin; Small, Leslie; Wiggins, Robert E.; Agemy, Steven; Udar, Nitin; Avetisjan, Jessica; Vincent, Andrea L; Shaya, Fadi

doi:10.1080/13816810.2021.2010771

Cited by 9 publications

(8 citation statements)

References 30 publications

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“…This strongly suggests that EOG is not as helpful as we were taught in diagnosing BVMD, which is a phenocopy of NCMD. 48 Even more noteworthy is that the severity grade of the NCMD phenotype worsened with each successive generation within this family. If this were the only family with NCMD, a researcher might be tempted to claim genetic anticipation as a characteristic of NCMD.…”

Section: Discussionmentioning

confidence: 84%

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New Noncoding Base Pair Mutation at the Identical Locus as the Original NCMD/MCDR1 in a Mexican Family, Suggesting a Mutational Hotspot

Small

Sompele

Avetisjan

et al. 2023

Journal of VitreoRetinal Diseases

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Purpose: To clinically and molecularly study a newly found family with North Carolina macular dystrophy (NCMD/MCDR1) from Mexico. Methods: This retrospective study comprised 6 members of a 3-generation Mexican family with NCMD. Clinical ophthalmic examinations, including fundus imaging, spectral-domain optical coherence tomography, electroretinography, and electrooculography, were performed. Genotyping with polymorphic markers in the MCDR1 region was performed to determine haplotypes. Whole-genome sequencing (WGS) was performed followed by variant filtering and copy number variant analysis. Results: Four subjects from 3 generations were found to have macular abnormalities. The proband presented with lifelong bilateral vision impairment with bilaterally symmetric vitelliform Best disease-like appearing macular lesions. Her 2 children had bilateral large macular coloboma-like malformations, consistent with autosomal dominant NCMD. The 80-year-old mother of the proband had drusen-like lesions consistent with grade 1 NCMD. WGS and subsequent Sanger sequencing found a point mutation at chr6:99593030G>C (hg38) in the noncoding region of the DNase I site thought to be a regulatory element of the retinal transcription factor gene PRDM13. This mutation is the identical site/nucleotide as in the original NCMD family (#765) but is a guanine to cytosine change rather than a guanine to thymine mutation, as found in the original NCMD family. Conclusions: We report a new noncoding mutation at the same locus (chr6:99593030G>C) involving the same DNase I site regulating the retinal transcription factor gene PRDM13. This suggests that this site, chr6:99593030, is a mutational hotspot.

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Section: Discussionmentioning

confidence: 84%

“…This strongly suggests that EOG is not as helpful as we were taught in diagnosing BVMD, which is a phenocopy of NCMD. 48…”

Section: Discussionmentioning

confidence: 99%

New Noncoding Base Pair Mutation at the Identical Locus as the Original NCMD/MCDR1 in a Mexican Family, Suggesting a Mutational Hotspot

Small

Sompele

Avetisjan

et al. 2023

Journal of VitreoRetinal Diseases

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“…The "normal EOG" in their family does not automatically rule out Bests Macular dystrophy as we have shown and BVMD is a known phenocopy of NMCD (ref. 19 ). Clinically, their family is not inconsistent with BVMD.…”

Section: To the Editormentioning

confidence: 99%

“…There are several issues with these statements that need to be clarified so as not to once again perpetuate errors in the literature. The authors made some peculiar and frankly erroneous choices of references while not including more pertinent ones such as those listed herein [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21] .…”

Section: To the Editormentioning

confidence: 99%

Letter to the Editor Regarding: "Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy" by Jana Nekolova et al.

Small¹

2023

BIOMED PAP

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“…In adults, it is necessary to differentiate Best's disease with adult fovea macular vitelliform dystrophy (from among pattern dystrophies), age-related macular degeneration, dominant druses, central serous chorioretinopathy, North Carolina macular dystrophy, toxoplasmous chorioretinitis, retinochorioiditis, solar retinopathy, macular hole or other causes of central atrophy, such as myopic degeneration [5,6].…”

Section: Introductionmentioning

confidence: 99%

Best's Disease: Diagnostic Criteria and Antiangiogenic Therapy Efficacy - A Case Report

Kopylov¹,

Korolenko²

2023

Act Sci Oph

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Purpose: To present a case report of diagnosis and management of a child's macular neovascularization (MNV) associated with Best's vitelliform macular dystrophy. Material and Methods:A 15-year-old patient with decreased vision in both eyes (more left than right). The vision decrease was first detected during an examination, including the determination of the best corrected visual acuity (BCVA), the vision field, and the collection of a genealogical history; OCT and OCTA revealed macular degeneration and active MNV.Results and Discussion: Stabilization of the pathological process in the form of adhering of the neuroepithelium detachment over the MNV was achieved only in the right eye after the 1 st ranibizumab injection. Relapses and continued activity of newly formed vessels were noted in the left eye.The lack of sufficient suppression of de novo vessels can be explained by 1 MNV type, deposition of lipofuscin-like material and presence of a large adductor vessel -a branch of the posterior short ciliary artery, which in general are prognostically unfavorable factors determining possible relapses and progression of pathological retinal changes. At the same time, during the natural disease course, the vitelliform material was displaced by gravity into the lower segments of the macular region and its further resorption, while the active adductor vessel was preserved. Conclusion:Kids' diagnosis of Best's vitelliform macular dystrophy is based on a complex of studies, including the collection of genealogical history, OCT, OCTA, autofluorescence. It is possible to verify the disease at early stages of the pathological process, to conduct timely therapy and adequate monitoring with an assessment of the activity degree of newly formed vessels and structural retinal changes. The key factors determining the need for antiangiogenic therapy in children with Best's disease are not only the active form of MNV, but also structural retinal changes and the state of visual functions.

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

Cited by 9 publications

References 30 publications

New Noncoding Base Pair Mutation at the Identical Locus as the Original NCMD/MCDR1 in a Mexican Family, Suggesting a Mutational Hotspot

New Noncoding Base Pair Mutation at the Identical Locus as the Original NCMD/MCDR1 in a Mexican Family, Suggesting a Mutational Hotspot

Letter to the Editor Regarding: "Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy" by Jana Nekolova et al.

Best's Disease: Diagnostic Criteria and Antiangiogenic Therapy Efficacy - A Case Report

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