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.

To describe the clinical heterogeneity of patients with novel mutations in BEST1.

Retinal phenotypes of six BVMD patients with different BEST1 mutations.

Johannes Birtel , Tobias Eisenberger , Martin Gliem , Philipp L. Müller , Philipp Herrmann , Christian Betz , Diana Zahnleiter ,...

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.

Explore a variety of therapeutic compounds/reagents to design either combined cell and gene- based therapies or independent approaches.

To identify the cause of retinitis pigmentosa (RP) in UTAD003, a large, six-generation Louisiana family with autosomal dominant RP.

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