巨噬细胞样细胞(MLCs)是一类具有免疫功能的异质性细胞群,主要包括小胶质细胞、玻璃体细胞以及血浆单核-巨噬细胞等。在生理情况下,MLCs参与视网膜稳态维持,在病理情况下则参与视网膜炎性病变,如糖尿病视网膜病变、视网膜静脉阻塞、葡...巨噬细胞样细胞(MLCs)是一类具有免疫功能的异质性细胞群,主要包括小胶质细胞、玻璃体细胞以及血浆单核-巨噬细胞等。在生理情况下,MLCs参与视网膜稳态维持,在病理情况下则参与视网膜炎性病变,如糖尿病视网膜病变、视网膜静脉阻塞、葡萄膜炎等。2020年,CASTANOS M V等首次使用临床光学相干层析成像(OCT)仪器将玻璃体视网膜界面MLCs可视化,至此越来越多的研究小组将其应用于各种视网膜及脉络膜炎性疾病的研究。本研究针对MLCs的一般特征以及其在各种视网膜及脉络膜炎性疾病中的研究进展进行阐述。展开更多
AIM:To identify and analyze the genotype of the patients with special ocular manifestations of familial vitreous amyloidosis(FVA)in a Chinese Han family.METHODS:Pars plana vitrectomy(PPV)surgery was performed on a 52-...AIM:To identify and analyze the genotype of the patients with special ocular manifestations of familial vitreous amyloidosis(FVA)in a Chinese Han family.METHODS:Pars plana vitrectomy(PPV)surgery was performed on a 52-year-old Chinese woman presented with vitreous amyloidosis and progressive visual impairment,without evidence of cardiac,renal,gastrointestinal,central nervous system or peripheral nervous system dysfunction.During the surgery,the patient presented with a gray-white dense and thick cotton woollike change in the vitreous body,accompanied by complete retinal detachment.Additionally,hard,free and movable yellow-white deposits were observed in the posterior pole and surrounding retina,the vitreous and subretinal deposits were examined by Congo red staining and immunohistochemical pathological examination,and whole exome sequencing was performed on blood samples from the patient and her cousin.RESULTS:During the operation,it was discovered that there was a complete detachment of the retina and a significant amount of hard,free-floating yellow-white deposits were observed beneath the posterior pole and surrounding retina.This is an exceedingly rare ocular manifestation.Pathological examination of the vitreous and subretinal deposit specimens revealed positive Congo red staining,as well as elevated vascular endothelial growth factor(VEGF)expression in vascular endothelial cells within the sediment specimens upon immunohistochemical examination.The patient and her cousin both exhibited a heterozygous mutation in Glyl03Arg within the transthyretin(TTR)gene,resulting in a substitution of glycine(Gly)at position 103 with arginine(Arg).CONCLUSION:FVA may present with various ocular manifestations,but panretinal detachment is a rare occurrence.In cases where retinal detachment persists for an extended period of time,amyloid deposits may form under the retina through retinal tears,leading to subretinal deposits that can impede retinal reattachment and negatively impact visual prognosis.Elevated levels of VEGF in the eyes of FVA patients may indicate an overexpression state,necessitating careful postoperative follow-up.The heterozygous mutation Gly103Arg may represent a unique pathogenic site in Chinese individuals.展开更多
文摘巨噬细胞样细胞(MLCs)是一类具有免疫功能的异质性细胞群,主要包括小胶质细胞、玻璃体细胞以及血浆单核-巨噬细胞等。在生理情况下,MLCs参与视网膜稳态维持,在病理情况下则参与视网膜炎性病变,如糖尿病视网膜病变、视网膜静脉阻塞、葡萄膜炎等。2020年,CASTANOS M V等首次使用临床光学相干层析成像(OCT)仪器将玻璃体视网膜界面MLCs可视化,至此越来越多的研究小组将其应用于各种视网膜及脉络膜炎性疾病的研究。本研究针对MLCs的一般特征以及其在各种视网膜及脉络膜炎性疾病中的研究进展进行阐述。
基金Supported by Zhejiang Provincial Health Science and Technology Program of Traditional Chinese Medicine(No.2021ZB284,No.2023ZR053)Science and Technology Bureau of Jiaxing City(No.2021AY30007,No.2021AY30008)Jiaxing Key Laboratory of Diabetic Angiopathy Research(No.2019ZDSYS)。
文摘AIM:To identify and analyze the genotype of the patients with special ocular manifestations of familial vitreous amyloidosis(FVA)in a Chinese Han family.METHODS:Pars plana vitrectomy(PPV)surgery was performed on a 52-year-old Chinese woman presented with vitreous amyloidosis and progressive visual impairment,without evidence of cardiac,renal,gastrointestinal,central nervous system or peripheral nervous system dysfunction.During the surgery,the patient presented with a gray-white dense and thick cotton woollike change in the vitreous body,accompanied by complete retinal detachment.Additionally,hard,free and movable yellow-white deposits were observed in the posterior pole and surrounding retina,the vitreous and subretinal deposits were examined by Congo red staining and immunohistochemical pathological examination,and whole exome sequencing was performed on blood samples from the patient and her cousin.RESULTS:During the operation,it was discovered that there was a complete detachment of the retina and a significant amount of hard,free-floating yellow-white deposits were observed beneath the posterior pole and surrounding retina.This is an exceedingly rare ocular manifestation.Pathological examination of the vitreous and subretinal deposit specimens revealed positive Congo red staining,as well as elevated vascular endothelial growth factor(VEGF)expression in vascular endothelial cells within the sediment specimens upon immunohistochemical examination.The patient and her cousin both exhibited a heterozygous mutation in Glyl03Arg within the transthyretin(TTR)gene,resulting in a substitution of glycine(Gly)at position 103 with arginine(Arg).CONCLUSION:FVA may present with various ocular manifestations,but panretinal detachment is a rare occurrence.In cases where retinal detachment persists for an extended period of time,amyloid deposits may form under the retina through retinal tears,leading to subretinal deposits that can impede retinal reattachment and negatively impact visual prognosis.Elevated levels of VEGF in the eyes of FVA patients may indicate an overexpression state,necessitating careful postoperative follow-up.The heterozygous mutation Gly103Arg may represent a unique pathogenic site in Chinese individuals.
