Progress in Retinal and Eye Research最新文献

{"title":"Genetics and current research models of Mendelian tumor predisposition syndromes with ocular involvement","authors":"Lola P. Lozano ,&nbsp;Renato Jensen ,&nbsp;Madeleine Jennisch ,&nbsp;Narendra G. Pandala ,&nbsp;Farzad Jamshidi ,&nbsp;H. Culver Boldt ,&nbsp;Budd A. Tucker ,&nbsp;Elaine M. Binkley","doi":"10.1016/j.preteyeres.2025.101359","DOIUrl":"10.1016/j.preteyeres.2025.101359","url":null,"abstract":"<div><div>In this review, we aim to provide a survey of hereditable tumor predisposition syndromes with a Mendelian inheritance pattern and ocular involvement. We focus our discussion on von Hippel-Lindau disease, neurofibromatosis type 1, NF2-related schwannomatosis, tuberous sclerosis complex, retinoblastoma, and the BAP1 tumor predisposition syndrome. For each of the six diseases, we discuss the clinical presentation and the molecular pathophysiology. We emphasize the genetics, current research models, and therapeutic developments. After reading each disease section, readers should possess an understanding of the clinical presentation, genetic causes and inheritance patterns, and current state of research in disease modeling and treatment.</div></div>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":"106 ","pages":"Article 101359"},"PeriodicalIF":18.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143877389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"AI explainability in oculomics: How it works, its role in establishing trust, and what still needs to be addressed","authors":"Songyang An ,&nbsp;Kelvin Teo ,&nbsp;Michael V. McConnell ,&nbsp;John Marshall ,&nbsp;Christopher Galloway ,&nbsp;David Squirrell","doi":"10.1016/j.preteyeres.2025.101352","DOIUrl":"10.1016/j.preteyeres.2025.101352","url":null,"abstract":"<div><div>Recent developments in artificial intelligence (AI) have seen a proliferation of algorithms that are now capable of predicting a range of systemic diseases from retinal images. Unlike traditional retinal disease detection AI models which are trained on well-recognised retinal biomarkers, systemic disease detection or “oculomics” models use a range of often poorly characterised retinal biomarkers to arrive at their predictions. As the retinal phenotype that oculomics models use may not be intuitive, clinicians have to rely on the developers’ explanations of how these algorithms work in order to understand them. The discipline of understanding how AI algorithms work employs two similar but distinct terms: Explainable AI and Interpretable AI (iAI). Explainable AI describes the holistic functioning of an AI system, including its impact and potential biases. Interpretable AI concentrates solely on examining and understanding the workings of the AI algorithm itself. iAI tools are therefore what the clinician must rely on if they are to understand how the algorithm works and whether its predictions are reliable. The iAI tools that developers use can be delineated into two broad categories: Intrinsic methods that improve transparency through architectural changes and post-hoc methods that explain trained models via external algorithms. Currently post-hoc methods, class activation maps in particular, are far more widely used than other techniques but they have their limitations especially when applied to oculomics AI models. Aimed at clinicians, we examine how the key iAI methods work, what they are designed to do and what their limitations are when applied to oculomics AI. We conclude by discussing how combining existing iAI techniques with novel approaches could allow AI developers to better explain how their oculomics models work and reassure clinicians that the results issued are reliable.</div></div>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":"106 ","pages":"Article 101352"},"PeriodicalIF":18.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143630829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Microglial regulation of the retinal vasculature in health and during the pathology associated with diabetes","authors":"Andrew I. Jobling ,&nbsp;Ursula Greferath ,&nbsp;Michael A. Dixon ,&nbsp;Pialuisa Quiriconi ,&nbsp;Belinda Eyar ,&nbsp;Anna K. van Koeverden ,&nbsp;Samuel A. Mills ,&nbsp;Kirstan A. Vessey ,&nbsp;Bang V. Bui ,&nbsp;Erica L. Fletcher","doi":"10.1016/j.preteyeres.2025.101349","DOIUrl":"10.1016/j.preteyeres.2025.101349","url":null,"abstract":"<div><div>The high metabolic demand of retinal neurons requires a precisely regulated vascular system that can deliver rapid changes in blood flow in response to neural need. In the retina, this is achieved via the action of a coordinated group of cells that form the neurovascular unit. While cells such as pericytes, Müller cells, and astrocytes have long been linked to neurovascular coupling, more recently the resident microglial population have also been implicated. In the healthy retina, microglia make extensive contact with blood vessels, as well as neuronal synapses, and are important in vascular patterning during development. Work in the brain and retina has recently indicated that microglia can directly regulate the local vasculature. In the retina, the fractalkine-Cx3cr1 signalling axis has been shown to induce local capillary constriction within the superficial vascular plexus via a mechanism involving components of the renin-angiotensin system. Furthermore, aberrant microglial induced vasoconstriction may be at the centre of early vascular reactivity changes observed in those with diabetes. This review summarizes the recent emerging evidence that microglia play multiple roles in retinal homeostasis especially in regulating the vasculature. We highlight what is known about the role of microglia under normal circumstances, and then build on this to discuss how microglia contribute to early vascular compromise during diabetes. Further understanding of the mechanisms of microglial-vascular regulation may allow alternate treatment strategies to be devised to reduce vascular pathology in diseases such as diabetic retinopathy.</div></div>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":"106 ","pages":"Article 101349"},"PeriodicalIF":18.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143531012","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"RNA methylation homeostasis in ocular diseases: All eyes on Me","authors":"Jieling Tang ,&nbsp;Chuandi Zhou ,&nbsp;Fuxiang Ye ,&nbsp;Sipeng Zuo ,&nbsp;Min Zhou ,&nbsp;Linna Lu ,&nbsp;Peiwei Chai ,&nbsp;Xianqun Fan","doi":"10.1016/j.preteyeres.2025.101335","DOIUrl":"10.1016/j.preteyeres.2025.101335","url":null,"abstract":"<div><div>RNA methylation is a pivotal epigenetic modification that adjusts various aspects of RNA biology, including nuclear transport, stability, and the efficiency of translation for specific RNA candidates. The methylation of RNA involves the addition of methyl groups to specific bases and can occur at different sites, resulting in distinct forms, such as N6-methyladenosine (m⁶A), N1-methyladenosine (m¹A), 5-methylcytosine (m⁵C), and 7-methylguanosine (m⁷G). Maintaining an optimal equilibrium of RNA methylation is crucial for fundamental cellular activities such as cell survival, proliferation, and migration. The balance of RNA methylation is linked to various pathophysiological conditions, including senescence, cancer development, stress responses, and blood vessel formation, all of which are pivotal for comprehending a spectrum of eye diseases.</div><div>Recent findings have highlighted the significant role of diverse RNA methylation patterns in ophthalmological conditions such as age-related macular degeneration, diabetic retinopathy, cataracts, glaucoma, uveitis, retinoblastoma, uveal melanoma, thyroid eye disease, and myopia, which are critical for vision health. This thorough review endeavors to dissect the influence of RNA methylation on common and vision-impairing ocular disorders. It explores the nuanced roles that RNA methylation plays in key pathophysiological mechanisms, such as oxidative stress and angiogenesis, which are integral to the onset and progression of these diseases. By synthesizing the latest research, this review offers valuable insights into how RNA methylation could be harnessed for therapeutic interventions in the field of ophthalmology.</div></div>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":"105 ","pages":"Article 101335"},"PeriodicalIF":18.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143067624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring retinal conditions through blue light reflectance imaging","authors":"Ricardo Luz Leitão Guerra ,&nbsp;Cezar Luz Leitão Guerra ,&nbsp;Mariana Gouveia Bastos Meirelles ,&nbsp;Gabriel Castilho Sandoval Barbosa ,&nbsp;Eduardo Amorim Novais ,&nbsp;Emmerson Badaró ,&nbsp;Luiz Filipe Adami Lucatto ,&nbsp;Luiz Roisman","doi":"10.1016/j.preteyeres.2024.101326","DOIUrl":"10.1016/j.preteyeres.2024.101326","url":null,"abstract":"<div><div>Blue light reflectance (BLR) imaging offers a non-invasive, cost-effective method for evaluating retinal structures by analyzing the reflectance and absorption characteristics of the inner retinal layers. By leveraging blue light's interaction with retinal tissues, BLR enhances visualization beyond the retinal nerve fiber layer, improving detection of structures such as the outer plexiform layer and macular pigment. Its diagnostic utility has been demonstrated in distinct retinal conditions, including hyperreflectance in early macular telangiectasia, hyporeflectance in non-perfused areas indicative of ischemia, identification of pseudodrusen patterns (notably the ribbon type), and detection of peripheral retinal tears and degenerative retinoschisis in eyes with reduced retinal pigment epithelial pigmentation. Best practices for image acquisition and interpretation are discussed, emphasizing standardization to minimize variability. Common artifacts and mitigation strategies are also addressed, ensuring image reliability. BLR's clinical utility, limitations, and future research directions are highlighted, particularly its potential in automated image analysis and quantitative assessment. Different BLR acquisition methods, such as fundus photography, confocal scanning laser ophthalmoscopy, and broad line fundus imaging, are evaluated for their respective advantages and limitations. As research advances, BLR's integration into multimodal workflows is expected to improve early detection and precise monitoring of retinal diseases.</div></div>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":"105 ","pages":"Article 101326"},"PeriodicalIF":18.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142932486","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative insights into the role of sex hormones in glaucoma among women and men","authors":"Sharon H. Zhao ,&nbsp;Christine K. Kim ,&nbsp;Tala Al-Khaled ,&nbsp;Margaret Ann Chervinko ,&nbsp;Anne Wishna ,&nbsp;Rukhsana G. Mirza ,&nbsp;Thasarat Sutabutr Vajaranant","doi":"10.1016/j.preteyeres.2025.101336","DOIUrl":"10.1016/j.preteyeres.2025.101336","url":null,"abstract":"<div><div>Baseline differences in sex hormone levels between males and females influence tissues including the brain and eye. To investigate the effects of estrogens and androgens on ocular physiology and glaucoma, we review the current literature on the influence of primary sex hormones on ocular function, glaucoma incidence and related parameters like intraocular pressure (IOP) at physiologic levels and related to hormone therapies in men and women. These articles reveal activity of estrogen, testosterone, and progesterone within ocular tissues including the retinal pigment epithelium and ciliary epithelium where they likely influence glaucoma pathophysiology through effects on ocular blood flow and aqueous outflow. A growing body of evidence demonstrates a protective role of estrogen in glaucoma. With fluctuations across a woman's lifetime through menstrual phases, pregnancy, and menopause, the general association seen is a lower risk of glaucoma and lower IOP with higher estrogen. Exogenous hormones in the form of oral contraceptive pills and hormone replacement therapy also appear to affect glaucoma risk, although published findings are inconsistent. Few studies have reported a positive association between IOP and serum testosterone, and men treated with androgen deprivation therapy have shown a reduced risk of glaucoma while masculinizing hormone therapies at supra-physiologic testosterone levels have significantly increased IOP. Sex hormone perturbations affect components of glaucoma pathogenesis including IOP and ocular blood flow and overlap with known risk factors like age and sex. Standardized studies are needed to further elucidate the roles of estrogen and testosterone in glaucoma risk and progression.</div></div>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":"105 ","pages":"Article 101336"},"PeriodicalIF":18.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143081040","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Healing the cornea: Exploring the therapeutic solutions offered by MSCs and MSC-derived EVs","authors":"Manon Jammes ,&nbsp;Abbas Tabasi ,&nbsp;Trung Bach ,&nbsp;Thomas Ritter","doi":"10.1016/j.preteyeres.2024.101325","DOIUrl":"10.1016/j.preteyeres.2024.101325","url":null,"abstract":"<div><div>Affecting a large proportion of the population worldwide, corneal disorders constitute a concerning health hazard associated to compromised eyesight or blindness for most severe cases. In the last decades, mesenchymal stem/stromal cells (MSCs) demonstrated promising abilities in improving symptoms associated to corneal diseases or alleviating these affections, especially through their anti-inflammatory, immunomodulatory and pro-regenerative properties. More recently, MSC therapeutic potential was shown to be mediated by the molecules they release, and particularly by their extracellular vesicles (EVs; MSC-EVs). Consequently, using MSC-EVs emerged as a pioneering strategy to mitigate the risks related to cell therapy while providing MSC therapeutic benefits. Despite the promises given by MSC- and MSC-EV-based approaches, many improvements are considered to optimize the therapeutic significance of these therapies. This review aspires to provide a comprehensive and detailed overview of current knowledge on corneal therapies involving MSCs and MSC-EVs, the strategies currently under evaluation, and the gaps remaining to be addressed for clinical implementation. From encapsulating MSCs or their EVs into biomaterials to enhance the ocular retention time to loading MSC-EVs with therapeutic drugs, a wide range of ground-breaking strategies are currently contemplated to lead to the safest and most effective treatments. Promising research initiatives also include diverse gene therapies and the targeting of specific cell types through the modification of the EV surface, paving the way for future therapeutic innovations. As one of the most important challenges, MSC-EV large-scale production strategies are extensively investigated and offer a wide array of possibilities to meet the needs of clinical applications.</div></div>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":"105 ","pages":"Article 101325"},"PeriodicalIF":18.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142872762","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unraveling ptosis: A comprehensive review of clinical manifestations, genetics, and treatment","authors":"Hao Deng ,&nbsp;Qianling Zhang ,&nbsp;Junhui Yi ,&nbsp;Lamei Yuan","doi":"10.1016/j.preteyeres.2024.101327","DOIUrl":"10.1016/j.preteyeres.2024.101327","url":null,"abstract":"<div><div>Ptosis is defined as an abnormally low-lying upper eyelid margin on the primary gaze, generally resulting from a congenital or acquired abnormality of the nerves or muscles that control the eyelid. Ptosis can occur alone or concurrently as an ocular or systemic syndrome, and the prevalence of ptosis varies among different countries and populations. Isolated ptosis typically causes aesthetic problems in patients and can lead to functional ophthalmic problems in severe cases. In individuals with syndromic ptosis, ptosis can be a warning of serious medical problems. There are different approaches to classification, depending on the onset time or the etiology of ptosis, and the clinical characteristics of congenital and acquired ptosis also differ. Pedigree and genetic analysis have demonstrated that hereditary ptosis is clinically heterogeneous, with incomplete concordance and variable expressivity. A number of genetic loci and genes responsible for hereditary isolated and syndromic ptosis have been reported. Optimal surgical timing and proper method are truly critical for avoiding the risk of potentially severe outcomes from ptosis and minimizing surgical complications, which are challenging as the pathogenesis is still indistinct and the anatomy is complex. This review provides a comprehensive review of ptosis, by summarizing the clinical manifestations, classification, diagnosis, genetics, treatment, and prognosis, as well as the bound anatomy of upper eyelid.</div></div>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":"105 ","pages":"Article 101327"},"PeriodicalIF":18.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142896825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prosthetic eye care – The current state of the art","authors":"Alexander C. Rokohl ,&nbsp;Keith R. Pine ,&nbsp;Nicola S. Pine ,&nbsp;Erik Gordon ,&nbsp;Janice Yeoman ,&nbsp;Jelmer S. Remmers ,&nbsp;Dyonne T. Hartong ,&nbsp;Ludwig M. Heindl","doi":"10.1016/j.preteyeres.2025.101337","DOIUrl":"10.1016/j.preteyeres.2025.101337","url":null,"abstract":"<div><div>After eye loss, a fast supply with a visually appealing prosthetic eye is not just a cosmetic solution, it is the key factor for a successful social, occupational, and psychological rehabilitation. For a long time, prosthetic eye care was based on acquired experiences, and there was a significant lack of systematic studies and peer-reviewed literature on this subject. However, in recent decades, research in the field of ocular prosthetics has been driven forward by ophthalmologists, ocularists, optometrists, ophthalmoplastic surgeons, and psychologists. Many essential findings have been made for improving the care of anophthalmic patients. In this extensive review, the current state of the art regarding prosthetic eye care based on the newest scientific findings is summarized. The broad focus includes important historical aspects in ocular prosthetics, in particular the historical development that led to ocularistic care with different prosthetic materials – cryolite glass and polymethyl methacrylate. Furthermore, epidemiology and etiology of eye loss, surgical techniques of eye removal as well as types and production of prosthetic eyes are set out. Important topics with new insights include psychological issues such as living with a prosthetic eye, treatment of children with anophthalmia and microphthalmia, as well as evidence-based prosthetic eye maintenance and handling. In addition, anophthalmic socket complications and associated treatment options with a focus on the common dry anophthalmic socket and post-enucleation socket syndromes were described in detail. Finally, we will speculate how the field of prosthetic eye care will develop in the future.</div></div>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":"105 ","pages":"Article 101337"},"PeriodicalIF":18.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143410394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Extensive macular atrophy with pseudodrusen-like appearance (EMAP) clinical characteristics, diagnostic criteria, and insights from allied inherited retinal diseases and age-related macular degeneration","authors":"Alessio Antropoli ,&nbsp;Lorenzo Bianco ,&nbsp;Francesco Romano ,&nbsp;Andrea Trinco ,&nbsp;Alessandro Arrigo ,&nbsp;Amine Benadji ,&nbsp;Raphaël Atia ,&nbsp;Oana Palacci ,&nbsp;Dorothée Dagostinoz ,&nbsp;Céline Devisme ,&nbsp;Christel Condroyer ,&nbsp;Aline Antonio ,&nbsp;Francesca Bosello ,&nbsp;Stefano Casati ,&nbsp;Anna Paola Salvetti ,&nbsp;Chiara Zaffalon ,&nbsp;Alain Gaudric ,&nbsp;José-Alain Sahel ,&nbsp;Giovanni Staurenghi ,&nbsp;Francesco Bandello ,&nbsp;Isabelle Audo","doi":"10.1016/j.preteyeres.2024.101320","DOIUrl":"10.1016/j.preteyeres.2024.101320","url":null,"abstract":"<div><div>Extensive macular atrophy with pseudodrusen-like appearance (EMAP) was first described in France in 2009 as a symmetric and rapidly progressive form of macular atrophy primarily affecting middle-aged individuals. Despite the recent identification of a significant number of cases in Italy and worldwide, EMAP remains an underrecognized condition. The clinical triad typical of EMAP consists of vertically oriented macular atrophy with multilobular borders, pseudodrusen-like deposits across the posterior pole and mid-periphery, and peripheral pavingstone degeneration. Nonetheless, recent research has portrayed EMAP as a highly stage-dependent condition, allowing the identification of novel disease hallmarks, including a diffuse separation between the Bruch’s membrane and the retinal pigment epithelium, along with consistent sparing of a region temporal to the macula. Additionally, retinal electrophysiology is particularly useful in distinguishing EMAP from age-related macular degeneration (AMD).</div><div>Supported by unpublished data from the largest EMAP cohorts worldwide, this review aims to provide a comprehensive and updated description of EMAP, now recognized as a severely blinding disease characterized by diffuse chorioretinal atrophy and photoreceptor dysfunction. Furthermore, we propose a set of diagnostic criteria that incorporate clinical, imaging, and functional tests, to facilitate the recognition of this clinical entity. Lastly, we aim to shed light on its pathogenesis by comparing it with AMD and monogenic retinal disorders exhibiting similar phenotypes.</div></div>","PeriodicalId":21159,"journal":{"name":"Progress in Retinal and Eye Research","volume":"104 ","pages":"Article 101320"},"PeriodicalIF":18.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142740381","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}