Pathogenic variants in RP2 cause X‐linked RP2‐associated retinopathy, a rare inherited retinal disorder typically characterized by childhood onset and progression to severe visual impairment within the first three decades of life. Despite its clinical severity, comprehensive clinical and genetic data on RP2‐associated...
N. Bögershausen, Patricia Döring, Maximilian J. Gerhardt et al.· Human Mutation· 0 citations
The diversity of these approaches takes account of the broad spectrum of diseases that ranges from a disease limited to the macula to a generalized rod-cone dystrophy and perspectively opens up individualized treatment strategies depending on the genotype and phenotype.
G. Ansari, Lucas Janeschitz-Kriegl, Pietro De Angeli et al.· Die Ophthalmologie· 0 citations
Results establish TPC2 as one of the regulators of lysosome-mediated choroidal angiogenesis, highlighting its potential as a therapeutic target in nAMD.
Yi Lu, Alice Reschigna, Franz Kynast et al.· Angiogenesis· 0 citations
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