PMID- 34895015
OWN - NLM
STAT- Publisher
LR  - 20240220
IS  - 1744-5094 (Electronic)
IS  - 1381-6810 (Linking)
DP  - 2021 Dec 13
TI  - Best Vitelliform Macular Dystrophy (BVMD) is a phenocopy of North Carolina 
      Macular Dystrophy (NCMD/MCDR1).
PG  - 1-11
LID - 10.1080/13816810.2021.2010771 [doi]
AB  - 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.
FAU - Small, Kent W
AU  - Small KW
AUID- ORCID: 0000-0002-5204-4959
AD  - Department of ophthalmology, Molecular Insight Research Foundation, Glendale and 
      Los Angeles, California, USA.
AD  - Department of ophthalmology, Macula and Retina Institute, Glendale and Los 
      Angeles, California, USA.
FAU - Jampol, Lee M
AU  - Jampol LM
AD  - Department of ophthalmology, Northwestern University Feinberg School of Medicine, 
      Chicago, Illinois, USA.
FAU - Bakall, Benjamin
AU  - Bakall B
AUID- ORCID: 0000-0003-1143-3007
AD  - Department of ophthalmology, University of Arizona College of Medicine, Phoenix, 
      Arizona, USA.
FAU - Small, Leslie
AU  - Small L
AD  - Department of ophthalmology, University of California San Francisco, San 
      Francisco, California, USA.
FAU - Wiggins, Robert
AU  - Wiggins R
AD  - Department of ophthalmology, Asheville Eye Associates, North Carolina, USA.
FAU - Agemy, Steven
AU  - Agemy S
AD  - Department of ophthalmology, SUNY Downstate Medical Center University, Brooklyn, 
      New York, USA.
FAU - Udar, Nitin
AU  - Udar N
AD  - Department of ophthalmology, Molecular Insight Research Foundation, Glendale and 
      Los Angeles, California, USA.
AD  - Department of ophthalmology, Macula and Retina Institute, Glendale and Los 
      Angeles, California, USA.
FAU - Avetisjan, Jessica
AU  - Avetisjan J
AD  - Department of ophthalmology, Molecular Insight Research Foundation, Glendale and 
      Los Angeles, California, USA.
AD  - Department of ophthalmology, Macula and Retina Institute, Glendale and Los 
      Angeles, California, USA.
FAU - Vincent, Andrea
AU  - Vincent A
AUID- ORCID: 0000-0002-4185-3267
AD  - Department of ophthalmology, University of Auckland, New Zealand Eye Centre, 
      Auckland, New Zealand.
FAU - Shaya, Fadi S
AU  - Shaya FS
AUID- ORCID: 0000-0003-4955-4103
AD  - Department of ophthalmology, Molecular Insight Research Foundation, Glendale and 
      Los Angeles, California, USA.
AD  - Department of ophthalmology, Macula and Retina Institute, Glendale and Los 
      Angeles, California, USA.
LA  - eng
PT  - Journal Article
DEP - 20211213
PL  - England
TA  - Ophthalmic Genet
JT  - Ophthalmic genetics
JID - 9436057
SB  - IM
OTO - NOTNLM
OT  - Best Macular Dystrophy (BMD)
OT  - Best Vitelliform Macular Dystrophy (BVMD)
OT  - Electrooculogram (EOG)
OT  - North Carolina Macular Dystrophy (NCMD/MCDR1)
OT  - phenocopy
EDAT- 2021/12/14 06:00
MHDA- 2021/12/14 06:00
CRDT- 2021/12/13 11:29
PHST- 2021/12/13 11:29 [entrez]
PHST- 2021/12/14 06:00 [pubmed]
PHST- 2021/12/14 06:00 [medline]
AID - 10.1080/13816810.2021.2010771 [doi]
PST - aheadofprint
SO  - Ophthalmic Genet. 2021 Dec 13:1-11. doi: 10.1080/13816810.2021.2010771.