原发性色素播散综合征的基础与临床研究进展OA

·Primary pigment dispersion syndrome(PDS)is characterized by pigment granules released from the pigment epithelium of iris,and their deposition in anterior segment of eye,particularly in the trabecular meshwork(TM).This condition may lead to elevated intraocular pressure(IOP),which further causes optic nerve damage,and progresses to pigmentary glaucoma(PG).PDS predominantly affects young myopic individuals and shows heterogeneous clinical manifestations.It may occur sporadically or in familial inheritance.It has been reported that the pathogenic genes include those involved in melanogenesis and melanosome homeostasis(e.g.,PMEL,MC1R,SLC45A2,and TYR),and genes related to ocular development and anterior segment formation(e.g.,CPAMD8,GSAP,and GRM5).The pathogenesis of PDS is closely associated with posterior iris concavity and reverse pupillary block,which may change the dynamics of aqueous humor,along with persistent liberation of pigmented granules by friction of iris and zonules.Pigmented granules accumulating in the TM may cause mechanical obstruction of TM,and increase the phagocytic burden of the cells,and result in cellular dysfunction and structural damage of TM.All these changes contribute to sustained elevation of IOP and optic neuropathy.Primary management of PDS involves regular follow-up and assessment of the risk of IOP elevation.Laser peripheral iridotomy may be considered to reduce posterior iris concavity in PDS.Treatment of PG focuses on IOP control for long term,which include topical medications,laser trabeculoplasty,and filtering or drainage surgery.Development of experimental animal models harboring human pathogenic genes and exhibiting PDS phenotypes is needed to facilitate in-depth research into the pathogenesis of PDS.