NOVEL AND HOMOZYGOUS BEST1 MUTATIONS IN CHINESE PATIENTS WITH BEST VITELLIFORM MACULAR DYSTROPHY

Retina ◽  
2010 ◽  
Vol 30 (5) ◽  
pp. 820-827 ◽  
Author(s):  
RAYMOND L. M. WONG ◽  
PING HOU ◽  
KWONG-WAI CHOY ◽  
SYLVIA W. Y. CHIANG ◽  
PANCY O. S. TAM ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Macular Dystrophy ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy

PREFERENTIAL HYPERACUITY PERIMETER IN BEST VITELLIFORM MACULAR DYSTROPHY

Retina ◽  
2011 ◽  
Vol 31 (5) ◽  
pp. 959-966 ◽  
Author(s):  
Giuseppe Querques ◽  
Karim Atmani ◽  
Rislie Bouzitou-Mfoumou ◽  
Nicolas Leveziel ◽  
Nathalie Massamba ◽  
...  
Keyword(s):  
Macular Dystrophy ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy

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

2021 ◽  
pp. 1-11
Author(s):  
Kent W. Small ◽  
Lee M. Jampol ◽  
Benjamin Bakall ◽  
Leslie Small ◽  
Robert Wiggins ◽  
...  
Keyword(s):  
North Carolina ◽  
Macular Dystrophy ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy

scholarly journals Multimodal imaging in best vitelliform macular dystrophy

2019 ◽  
Vol 4 ◽  
pp. 31-31
Author(s):  
Enrico Borrelli ◽  
Riccardo Sacconi ◽  
Francesco Bandello ◽  
Giuseppe Querques
Keyword(s):  
Multimodal Imaging ◽  
Macular Dystrophy ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy

scholarly journals The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy

Biology Open ◽  
2019 ◽  
Vol 8 (7) ◽  
pp. bio041335
Author(s):  
Andrea Milenkovic ◽  
Denise Schmied ◽  
Naoyuki Tanimoto ◽  
Mathias W. Seeliger ◽  
Janet R. Sparrow ◽  
...  
Keyword(s):  
Mouse Model ◽  
Protein Stability ◽  
Macular Dystrophy ◽  
Sperm Function ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy
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