Temming and colleagues(1)present important data from the German national retinoblastoma reference center(University Hospital Essen)confirming the previously observed(2)long-term very serious consequence of radiation t...Temming and colleagues(1)present important data from the German national retinoblastoma reference center(University Hospital Essen)confirming the previously observed(2)long-term very serious consequence of radiation treatment to save vision for children with heritable retinoblastoma:second cancers.The long-term overall survival of 633 patients with heritable retinoblastoma diagnosed between 1940 and 2008 was studied.Heritable retinoblastoma is initiated by constitutional mutation in the RB1 tumor suppressor gene,indicated as“H1”in the 8th edition of the TNMH cancer staging for retinoblastoma(3).展开更多
Alternative splicing is the process of producing variably spliced mRNAs by choosing distinct combinations of splice sites within a messenger RNA precursor.This splicing enables mRNA from a single gene to synthesize di...Alternative splicing is the process of producing variably spliced mRNAs by choosing distinct combinations of splice sites within a messenger RNA precursor.This splicing enables mRNA from a single gene to synthesize different proteins,which have different cellular properties and functions and yet arise from the same single gene.A family of splicing factors,Serine-arginine rich proteins,are needed to initiate the assembly and activation of the spliceosome.Serine and arginine rich splicing factor 1,part of the arginine/serine-rich splicing factor protein family,can either activate or inhibit the splicing of mRNAs,depending on the phosphorylation status of the protein and its interaction partners.Considering that serine and arginine rich splicing factor 1 is either an activator or an inhibitor,this protein has been studied widely to identify its various roles in different diseases.Research has found that serine and arginine rich splicing factor 1 is a key target for neuroprotection,showing its promising potential use in therapeutics for neurodegenerative disorders.Furthermore,serine and arginine rich splicing factor 1 might be used to regulate cancer development and autoimmune diseases.In this review,we highlight how serine and arginine rich splicing factor 1 has been studied concerning neuroprotection.In addition,we draw attention to how serine and arginine rich splicing factor 1 is being studied in cancer and immunological disorders,as well as how serine and arginine rich splicing factor 1 acts outside the central or peripheral nervous system.展开更多
Optical coherence tomography(OCT)angiography is a new non-invasive imaging modality which is providing clinicians with an alternative to traditional dye-based angiography.The images are obtained using the concept of m...Optical coherence tomography(OCT)angiography is a new non-invasive imaging modality which is providing clinicians with an alternative to traditional dye-based angiography.The images are obtained using the concept of motion contrast and provide a quicker safer way to image the retinal and choroidal circulation.Not only are there practical aspects to support its integration but new insights are being made into the path;hysiology of various retinal choroidal diseases due to its ability to provide a 3-dimensional view of the vasculature which can be segmented in many ways to focus in on the circulation of a given anatomic region of the retina.We are currently in the phase of integration of this new technology into our practices.展开更多
Retinoma,also referred to as retinocytoma,is a benign manifestation of biallelic retinoblastoma gene(RB1)inactivation.Genetic or epigenetic loss of retinoblastoma protein in maturing cone precursors induces genomic in...Retinoma,also referred to as retinocytoma,is a benign manifestation of biallelic retinoblastoma gene(RB1)inactivation.Genetic or epigenetic loss of retinoblastoma protein in maturing cone precursors induces genomic instability which leads to upregulation of senescence-associated p16 INK4a and p130,resulting in non-proliferative retinoma.When senescence pathways fail and genetic instability accumulates to a critical level through altered gene copies of oncogenes and tumor suppression genes,transformation into RB1^(-/-)retinoblastoma occurs.Thus,the management of retinoma involves frequent ophthalmic examination and imaging to monitor the size and characteristics of the tumor,ensure stability,and rule out malignant transformation.Key ophthalmoscopic features of retinoma often include a translucent whitish-gray retinal mass,calcification,retinal pigment epithelial alterations with well-defined margins,located typically around the lesion,as well as a zone of chorioretinal atrophy.This review aims to provide a comprehensive overview of this non-malignant tumor drawing from current understanding of its molecular genetics,clinical characteristics,diagnostic modalities,differential diagnosis,management,and prognosis.A deeper understanding of retinoma could offer valuable insights into how retinoblastoma develops and oncogenesis more broadly,paving the way for improved strategies to prevent and treat this malignant tumor.展开更多
Several methods have been described in the literature to both evaluate and document progression in keratoconus,but there is no consistent or clear definition of ectasia progression.The authors describe how modern corn...Several methods have been described in the literature to both evaluate and document progression in keratoconus,but there is no consistent or clear definition of ectasia progression.The authors describe how modern corneal tomography,including both anterior and posterior elevation and pachymetric data can be used to screen for ectatic progression,and how software programs such as the Enhanced Reference Surface and the Belin-Ambrosio Enhanced Ectasia Display(BAD)can be employed to detect earlier changes.Additionally,in order to describe specific quantitative values that can be used as progression determinants,the normal noise measurement of the three parameters(corneal thickness at the thinnest point,anterior and posterior radius of curvature(ARC,PRC)taken from the 3.0 mm optical zone centered on the thinnest point),was assessed.These values were obtained by imaging five normal patients using three different technicians on three separate days.The 95%and 80%one-sided confidence intervals for all three parameters were surprisingly small(7.88/4.03μm for corneal thickness,0.024/0.012 mm for ARC,and 0.083/0.042 mm for PRC),suggesting that they may perform well as progression determinants.展开更多
Dear Editor,Diabetic retinopathy(DR)remains a leading cause of irreversible blindness in adults worldwide(Sabanayagam et al.,2019).Increasing evidence suggests that visual deficits are closely associated with neurodeg...Dear Editor,Diabetic retinopathy(DR)remains a leading cause of irreversible blindness in adults worldwide(Sabanayagam et al.,2019).Increasing evidence suggests that visual deficits are closely associated with neurodegeneration,especially the synaptic loss and degeneration of retinal ganglion cells(RGCs)(Kern and Barber,2008).Neurotrophic factors play a key role in supporting the survival of RGCs(Kimura et al.,2016)and brain-derived neurotrophic factor(BDNF)stands out as a crucial neurotrophin vital for RGCs(Kimura et al.,2016).In vivo studies have demonstrated that intravitreal administration of BDNF enhances the survival of axotomized RGCs in rats,and astrocytes designed to secrete BDNF promote RGC survival in vitro(Castillo et al.,1994).展开更多
The visualization and assessment of retinal microvasculature are important in the study,diagnosis,monitoring,and guidance of treatment of ocular and systemic diseases.With the introduction of optical coherence tomogra...The visualization and assessment of retinal microvasculature are important in the study,diagnosis,monitoring,and guidance of treatment of ocular and systemic diseases.With the introduction of optical coherence tomography angiography(OCTA),it has become possible to visualize the retinal microvasculature volumetrically and without a contrast agent.Many lab-based and commercial clinical instruments,imaging protocols and data analysis methods and metrics,have been applied,often inconsistently,resulting in a confusing picture that represents a major barrier to progress in applying OCTA to reduce the burden of disease.Open data and software sharing,and cross-comparison and pooling of data from different studies are rare.These inabilities have impeded building the large databases of annotated OCTA images of healthy and diseased retinas that are necessary to study and define characteristics of specific conditions.This paper addresses the steps needed to standardize OCTA imaging of the human retina to address these limitations.Through review of the OCTA literature,we identify issues and inconsistencies and propose minimum standards for imaging protocols,data analysis methods,metrics,reporting of findings,and clinical practice and,where this is not possible,we identify areas that require further investigation.We hope that this paper will encourage the unification of imaging protocols in OCTA,promote transparency in the process of data collection,analysis,and reporting,and facilitate increasing the impact of OCTA on retinal healthcare delivery and life science investigations.展开更多
文摘Temming and colleagues(1)present important data from the German national retinoblastoma reference center(University Hospital Essen)confirming the previously observed(2)long-term very serious consequence of radiation treatment to save vision for children with heritable retinoblastoma:second cancers.The long-term overall survival of 633 patients with heritable retinoblastoma diagnosed between 1940 and 2008 was studied.Heritable retinoblastoma is initiated by constitutional mutation in the RB1 tumor suppressor gene,indicated as“H1”in the 8th edition of the TNMH cancer staging for retinoblastoma(3).
文摘Alternative splicing is the process of producing variably spliced mRNAs by choosing distinct combinations of splice sites within a messenger RNA precursor.This splicing enables mRNA from a single gene to synthesize different proteins,which have different cellular properties and functions and yet arise from the same single gene.A family of splicing factors,Serine-arginine rich proteins,are needed to initiate the assembly and activation of the spliceosome.Serine and arginine rich splicing factor 1,part of the arginine/serine-rich splicing factor protein family,can either activate or inhibit the splicing of mRNAs,depending on the phosphorylation status of the protein and its interaction partners.Considering that serine and arginine rich splicing factor 1 is either an activator or an inhibitor,this protein has been studied widely to identify its various roles in different diseases.Research has found that serine and arginine rich splicing factor 1 is a key target for neuroprotection,showing its promising potential use in therapeutics for neurodegenerative disorders.Furthermore,serine and arginine rich splicing factor 1 might be used to regulate cancer development and autoimmune diseases.In this review,we highlight how serine and arginine rich splicing factor 1 has been studied concerning neuroprotection.In addition,we draw attention to how serine and arginine rich splicing factor 1 is being studied in cancer and immunological disorders,as well as how serine and arginine rich splicing factor 1 acts outside the central or peripheral nervous system.
文摘Optical coherence tomography(OCT)angiography is a new non-invasive imaging modality which is providing clinicians with an alternative to traditional dye-based angiography.The images are obtained using the concept of motion contrast and provide a quicker safer way to image the retinal and choroidal circulation.Not only are there practical aspects to support its integration but new insights are being made into the path;hysiology of various retinal choroidal diseases due to its ability to provide a 3-dimensional view of the vasculature which can be segmented in many ways to focus in on the circulation of a given anatomic region of the retina.We are currently in the phase of integration of this new technology into our practices.
文摘Retinoma,also referred to as retinocytoma,is a benign manifestation of biallelic retinoblastoma gene(RB1)inactivation.Genetic or epigenetic loss of retinoblastoma protein in maturing cone precursors induces genomic instability which leads to upregulation of senescence-associated p16 INK4a and p130,resulting in non-proliferative retinoma.When senescence pathways fail and genetic instability accumulates to a critical level through altered gene copies of oncogenes and tumor suppression genes,transformation into RB1^(-/-)retinoblastoma occurs.Thus,the management of retinoma involves frequent ophthalmic examination and imaging to monitor the size and characteristics of the tumor,ensure stability,and rule out malignant transformation.Key ophthalmoscopic features of retinoma often include a translucent whitish-gray retinal mass,calcification,retinal pigment epithelial alterations with well-defined margins,located typically around the lesion,as well as a zone of chorioretinal atrophy.This review aims to provide a comprehensive overview of this non-malignant tumor drawing from current understanding of its molecular genetics,clinical characteristics,diagnostic modalities,differential diagnosis,management,and prognosis.A deeper understanding of retinoma could offer valuable insights into how retinoblastoma develops and oncogenesis more broadly,paving the way for improved strategies to prevent and treat this malignant tumor.
文摘Several methods have been described in the literature to both evaluate and document progression in keratoconus,but there is no consistent or clear definition of ectasia progression.The authors describe how modern corneal tomography,including both anterior and posterior elevation and pachymetric data can be used to screen for ectatic progression,and how software programs such as the Enhanced Reference Surface and the Belin-Ambrosio Enhanced Ectasia Display(BAD)can be employed to detect earlier changes.Additionally,in order to describe specific quantitative values that can be used as progression determinants,the normal noise measurement of the three parameters(corneal thickness at the thinnest point,anterior and posterior radius of curvature(ARC,PRC)taken from the 3.0 mm optical zone centered on the thinnest point),was assessed.These values were obtained by imaging five normal patients using three different technicians on three separate days.The 95%and 80%one-sided confidence intervals for all three parameters were surprisingly small(7.88/4.03μm for corneal thickness,0.024/0.012 mm for ARC,and 0.083/0.042 mm for PRC),suggesting that they may perform well as progression determinants.
基金supported by the National Natural Science Foundation of China (81922025, 82371473, 82171080, 81970823, 82171461, 81771457, 82271107)by Jiangsu Province Social Development Project (BE2023702)funded by the Priority Academic Program Development of Jiangsu Higher Education Institutions
文摘Dear Editor,Diabetic retinopathy(DR)remains a leading cause of irreversible blindness in adults worldwide(Sabanayagam et al.,2019).Increasing evidence suggests that visual deficits are closely associated with neurodegeneration,especially the synaptic loss and degeneration of retinal ganglion cells(RGCs)(Kern and Barber,2008).Neurotrophic factors play a key role in supporting the survival of RGCs(Kimura et al.,2016)and brain-derived neurotrophic factor(BDNF)stands out as a crucial neurotrophin vital for RGCs(Kimura et al.,2016).In vivo studies have demonstrated that intravitreal administration of BDNF enhances the survival of axotomized RGCs in rats,and astrocytes designed to secrete BDNF promote RGC survival in vitro(Castillo et al.,1994).
基金the Australian National Health&Medical Research Council(project and fellowship grant no.:GNT1116360,GNT1188694,GNT1054712,and MRF1142962)the Raine Foundation,Ophthalmic Research Institute of Australia,and the McCusker Charitable Foundation for his and his team's work in OCTA.
文摘The visualization and assessment of retinal microvasculature are important in the study,diagnosis,monitoring,and guidance of treatment of ocular and systemic diseases.With the introduction of optical coherence tomography angiography(OCTA),it has become possible to visualize the retinal microvasculature volumetrically and without a contrast agent.Many lab-based and commercial clinical instruments,imaging protocols and data analysis methods and metrics,have been applied,often inconsistently,resulting in a confusing picture that represents a major barrier to progress in applying OCTA to reduce the burden of disease.Open data and software sharing,and cross-comparison and pooling of data from different studies are rare.These inabilities have impeded building the large databases of annotated OCTA images of healthy and diseased retinas that are necessary to study and define characteristics of specific conditions.This paper addresses the steps needed to standardize OCTA imaging of the human retina to address these limitations.Through review of the OCTA literature,we identify issues and inconsistencies and propose minimum standards for imaging protocols,data analysis methods,metrics,reporting of findings,and clinical practice and,where this is not possible,we identify areas that require further investigation.We hope that this paper will encourage the unification of imaging protocols in OCTA,promote transparency in the process of data collection,analysis,and reporting,and facilitate increasing the impact of OCTA on retinal healthcare delivery and life science investigations.
