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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