Retinal findings raised suspicion for this inherited retinal disease, confirmed with genetic testing.

Report on ten patients with ARB due to mutations in BEST1 characterizing their clinical features and genetic mutations.

Zhi-Hong Zhu , Xin Jin , Yi-Xin Zhang , Rui Wang , Tong Wu , Wei Liu , Ze-Hua Chen , Hai-Nan Xie , Lan-Lan Chen , Zi-Hao Liu , Hou-Bin...

Retinal phenotypes of six BVMD patients with different BEST1 mutations.

BEST1 mutations play a role in some cases of RP. However, it's difficult to understand why some mutations associate with peripheral retinal

Presents a patient with a clinical phenotype consistent with classic features of RP.

Histopathologic observations in BEST1-related diseases that expand our insight in the pathogenesis. Plus perspectives on future therapeutics