{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CRB1 is a transmembrane protein that constitutes a key element of the Crumbs polarity complex, which is crucial for establishing and maintaining epithelial‐apicobasal polarity. In the retina, CRB1 localizes to a subapical region immediately adjacent to the adherens junctions between photoreceptors and Müller glial cells, where it mediates the formation and stabilization of tight junctions and thereby preserves retinal lamination and structural integrity."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Functional studies in both patients and experimental animal models have demonstrated that loss‐of‐function mutations in CRB1 lead to a broad spectrum of severe retinal dystrophies—including Leber congenital amaurosis and various forms of retinitis pigmentosa. In CRB1 deficiency, impaired complex formation with interacting partners (such as PALS1 and PATJ) disrupts adherens junction integrity at the outer limiting membrane, resulting in a disorganized, thickened retina with features such as pseudorosettes or rosette‐like lesions and progressive photoreceptor degeneration."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "10"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Further genotype–phenotype analyses reveal that the clinical presentation associated with CRB1 mutations is highly variable and influenced by the nature of the mutation as well as modifying factors related to genetic background. Experimental models—including knock‐in and knockout mice—demonstrate that even when mutant CRB1 is correctly trafficked to the subapical region, its altered function leads to gradual loss of photoreceptor integrity and retinal degeneration, underscoring its essential role during both retinal development and maintenance."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "11", "end_ref": "15"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In clinical screening studies, CRB1 mutations are frequently identified in cohorts of patients with early‐onset retinal dystrophies, and detailed imaging and electrophysiological assessments correlate characteristic disorganization of the outer retina with a relatively early decline in visual function. These observations emphasize that CRB1 not only functions as a structural organizer within the retina but also has major implications for the prognosis and therapeutic management of associated retinal disorders."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "16", "end_ref": "20"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, human retinal organoid studies and analyses of patient samples further confirm the presence of CRB1 in both photoreceptors and Müller cells and recapitulate retinal disorganization associated with CRB1 mutations. Collectively, these studies highlight the central role of CRB1 in maintaining apical membrane structure and cell–cell adhesion in polarized retinal tissue—a function that is evolutionarily conserved and essential for proper retinal morphogenesis and function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "21", "end_ref": "26"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Michael H Roh, Olga Makarova, Chia-Jen Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Maguk protein, Pals1, functions as an adapter, linking mammalian homologues of Crumbs and Discs Lost."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.200109010"}], "href": "https://doi.org/10.1083/jcb.200109010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11927608"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11927608"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Céline Lemmers, Didier Michel, Lydie Lane-Guermonprez, et al. 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