White spot syndromes (WSS) pose challenges in the field of ophthalmology, particularly in
terms of accurate diagnosis and effective management. However, recent advancements in …

Epithelial tissue formation and function requires the apical-basal polarization of individual
epithelial cells. Apical polarity regulators (APRs) are an evolutionarily conserved group of …

Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of
photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical …

Photoreceptors are sensory neurons designed to convert light stimuli into neurological
responses. This process, called phototransduction, takes place in the outer segments (OS) …

Age related macular degeneration (AMD) is a complex multifactorial disease caused by the
interplay of age and genetic and environmental risk factors. A common feature observed in …

PURPOSE To analyze the clinical characteristics, natural history, and genetics of CRB1-
associated retinal dystrophies. DESIGN Multicenter international retrospective cohort study …

Recent advances have driven the development of stem cell-derived, self-organizing, three-
dimensional miniature organs, termed organoids, which mimic different eye tissues …

Human retinal organoids from induced pluripotent stem cells (hiPSCs) can be used to
confirm the localization of proteins in retinal cell types and to test transduction and …

The majority of patients with mutations in CRB1 develop either early-onset retinitis
pigmentosa as young children or Leber congenital amaurosis as newborns. The cause for …

Primary cilia are sensory organelles present on most mammalian cells. The assembly and
maintenance of primary cilia are facilitated by intraflagellar transport (IFT), a bidirectional …