Genetic Basis of Pigment Dispersion Syndrome and Pigmentary Glaucoma: An Update and Functional Insights.
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Abstract | Pigment Dispersion Syndrome (PDS) and Pigmentary Glaucoma (PG) comprise a spectrum of ocular disorders characterized by iris pigment dispersion and trabecular meshwork changes, resulting in increased intraocular pressure and potential glaucomatous optic neuropathy. This review summarizes recent progress in PDS/PG genetics including rare pathogenic protein coding alterations () and susceptibility loci identified from genome-wide association studies ( and Areas for future research are also identified, especially the development of efficient model systems. While substantial strides have been made in understanding the genetics of PDS/PG, our review identifies key gaps and outlines the future directions necessary for further advancing this important field of ocular genetics. |
Year of Publication | 2024
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Journal | Genes
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Volume | 15
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Issue | 2
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Date Published | 01/2024
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ISSN | 2073-4425
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DOI | 10.3390/genes15020142
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PubMed ID | 38397132
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