Article
Cell Biology
Imen Habibi, Yosra Falfoul, Hoai Viet Tran, Khaled El Matri, Ahmed Chebil, Leila El Matri, Daniel F. Schorderet
Summary: This study identified a new form of digenetic combination in families with autosomal dominant retinal dystrophies, showing that in consanguineous families, autosomal recessive can be transmitted as pseudodominant inheritance in RD patients. The findings further expand our knowledge of pathogenic variants in RD genes.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Andrew Manley, Bahar I. Meshkat, Monica M. Jablonski, T. J. Hollingsworth
Summary: Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases with various inheritance patterns caused by defects in retinal function, development, or both. Mutated genes associated with IRDs produce altered protein products that disrupt pathways critical to vision. This manuscript provides a comprehensive review of the molecular mechanisms underlying IRD pathogenesis by examining the genes, protein products, and pathways affected by genetic mutation.
Review
Biochemistry & Molecular Biology
Enrica Strettoi, Beatrice Di Marco, Noemi Orsini, Debora Napoli
Summary: This article reviews the plasticity of the retina, finding that it has limited plasticity outside the developmental stage. In contrast, the retina is highly adept at maintaining a stable structure and functional organization. The article also discusses the variable rate of structural plasticity in retinal neurons in different circumstances.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Medicine, General & Internal
Kei Mizobuchi, Takaaki Hayashi, Noriko Oishi, Daiki Kubota, Shuhei Kameya, Koichiro Higasa, Takuma Futami, Hiroyuki Kondo, Katsuhiro Hosono, Kentaro Kurata, Yoshihiro Hotta, Kazutoshi Yoshitake, Takeshi Iwata, Tomokazu Matsuura, Tadashi Nakano
Summary: The study on RP1-associated retinal dystrophies in the Japanese population revealed a high prevalence of RP1 variants, with Alu element insertion being the most common variant. Clinical findings showed that AR-RP patients had earlier and faster onset and progression of the disease compared to AD-RP or AR-COD/CORD patients.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Multidisciplinary Sciences
Atta Ur Rehman, Neda Sepahi, Nicola Bedoni, Zeinab Ravesh, Arash Salmaninejad, Francesca Cancellieri, Virginie G. Peter, Mathieu Quinodoz, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Saman Ghalamkari, Mehran Piran, Mehrdad Piran, Andrea Superti-Furga, Carlo Rivolta
Summary: In this study, 17 distinct genomic variants in IRD disease genes were identified in 17 consanguineous pedigrees of Iranian descent, confirming the heterogeneous nature and recessive inheritance pattern of IRDs. The findings also highlight endogamy within the Iranian population as a major contributing factor to the appearance of IRDs.
SCIENTIFIC REPORTS
(2021)
Review
Cell Biology
Marilia Ines Movio, Theo Henrique de Lima-Vasconcellos, Gabrieli Bovi dos Santos, Marcela Bermudez Echeverry, Elisabetta Colombo, Leonardo S. Mattos, Rodrigo Ribeiro Resende, Alexandre Hiroaki Kihara
Summary: Human-induced pluripotent stem cells (hiPSCs) have revolutionized the study of neurodegenerative diseases, including retinal dystrophies. In vitro modeling of retinal diseases using hiPSCs has offered new insights and possibilities for early diagnosis of conditions like Alzheimer's disease (AD) and Parkinson's disease (PD). This review highlights recent progress in the field and emphasizes the potential of retinal organoids obtained from potential patients to evaluate disease-related changes long before symptoms appear.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2023)
Article
Genetics & Heredity
Maria Gonzalez-del Pozo, Elena Fernandez-Suarez, Nereida Bravo-Gil, Cristina Mendez-Vidal, Marta Martin-Sanchez, Enrique Rodriguez-de la Rua, Manuel Ramos-Jimenez, Maria Jose Morillo-Sanchez, Salud Borrego, Guillermo Antinolo
Summary: This study aims to define a WGS-based algorithm for interpreting variants in inherited retinal dystrophies (IRD). Through data analysis and filtering, the optimal tool combinations were identified and a candidate gene was successfully identified. This translational strategy is essential for the advancement of personalized medicine.
NPJ GENOMIC MEDICINE
(2022)
Article
Genetics & Heredity
Bilal Azab, Zain Dardas, Dunia Aburizeg, Muawyah Al-Bdour, Mohammed Abu-Ameerh, Tareq Saleh, Raghda Barham, Ranad Maswadi, Nidaa A. Ababneh, Mohammad Alsalem, Hana Zouk, Sami Amr, Abdalla Awidi
Summary: The study identified a high number of disease-causing variants in IRD-associated genes in Jordanian patients using WES, with three families showing phenotypes different from typically reported clinical findings. This represents the largest genetic analysis of IRDs in the Jordanian population to date, confirming the utility of WES as a powerful tool for molecular diagnosis in large patient cohorts.
Article
Ophthalmology
Mays Talib, Mary J. van Schooneveld, Jan Wijnholds, Maria M. van Genderen, Nicoline E. Schalij-Delfos, Herman E. Talsma, Ralph J. Florijn, Jacoline B. ten Brink, Frans P. M. Cremers, Alberta A. H. J. Thiadens, L. Ingeborgh van den Born, Carel B. Hoyng, Magda A. Meester-Smoor, Arthur A. Bergen, Camiel J. F. Boon
Summary: This study investigated the retinal structure and function in patients with CRB1-associated retinal dystrophies (RD) and explored potential clinical endpoints. Despite a generally severe course, symptom onset and central visual function varied, even at advanced ages. Phenotypes may differ within the same family, and longitudinal imaging and functional studies are needed to determine appropriate endpoints for a clinical trial.
ACTA OPHTHALMOLOGICA
(2021)
Article
Ophthalmology
Muhammad Marwan, Muhammad Dawood, Mukhtar Ullah, Irfan Ullah Shah, Niamat Khan, Muhammad Taimur Hassan, Muhammad Karam, Lettie E. E. Rawlins, Emma L. Baple, Andrew H. H. Crosby, Shamim Saleha
Summary: This study aimed to increase understanding of the spectrum of retinitis pigmentosa (RP) in the Khyber Pakhtunkhwa region of Pakistan. Using whole exome and dideoxy sequencing, pathogenic gene variants were identified in four consanguineous families. This study provides important information for genetic testing and diagnosis of retinal dystrophies in families from Pakistan.
Article
Geriatrics & Gerontology
Bing-Nan Su, Ren-Juan Shen, Zhuo-Lin Liu, Yang Li, Zi-Bing Jin
Summary: This study comprehensively analyzed the genetic spectrum of the USH2A gene and identified global hotspot exons and mutations, as well as the potential for correcting single nucleotide variations (SNVs) using different base editors. It expanded the knowledge of USH2A mutations and provided valuable insights for future gene editing and gene therapies.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Article
Ophthalmology
Xuan-thanh-an Nguyen, Mays Talib, Mary J. van Schooneveld, J. A. N. Wijnholds, Maria M. van Genderen, Nicoline E. Schalij-delfos, Caroline C. W. Klaver, Herman E. Talsma, Marta Fiocco, Ralph J. Florijn, Jacoline B. ten Brink, Frans P. M. Cremers, Magda A. Meester-smoor, L. Ingeborgh van den Born, Carel B. Hoyng, Alberta A. H. J. Thiadens, Arthur A. Bergen, Camiel J. F. Boon
Summary: This study aimed to investigate the natural disease course of retinal dystrophies associated with CRB1 and identify clinical end points for future trials. Results showed that over 2 years, BCVA and V4e isopter seeing retinal areas remained relatively stable in the entire cohort, but individual patients showed signs of clinical progression. Microperimetry revealed a significant decrease in retinal sensitivity during follow-up.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2022)
Article
Ophthalmology
Malena Daich Varela, Michalis Georgiou, Yahya Alswaiti, Jamil Kabbani, Kaoru Fujinami, Yu Fujinami-Yokokawa, Shaheeni Khoda, Omar A. Mahroo, Anthony G. Robson, Andrew R. Webster, Alaa AlTalbishi, Michel Michaelides
Summary: This multicenter international cohort study aimed to analyze the clinical characteristics, natural history, and genetics of CRB1-associated retinal dystrophies. The study included 104 patients with disease-causing CRB1 variants, and the main outcome measures were macular optical coherence tomography (OCT) parameters, visual function, and fundus characteristics. The results showed that individuals with CRB1 variants could present with different phenotypes, including retinitis pigmentosa, early-onset severe retinal dystrophy/Leber congenital amaurosis, and macular dystrophy. The study also highlighted CRB1 retinal dystrophies as a promising target for trials of novel therapeutics.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Lorena Olivares-Gonzalez, Sheyla Velasco, Isabel Campillo, David Salom, Emilio Gonzalez-Garcia, Jose Miguel Soriano del Castillo, Regina Rodrigo
Summary: In this study, the nutraceutical mixture with antioxidant properties (NUT) was found to delay retinal degeneration in rd10 mice, a model of RP. NUT treatment improved redox status, reduced inflammation, and preserved retinal functionality and morphology in early stages of RP. This formulation could potentially serve as a neuroprotective approach for patients with RP in the future.
Article
Ophthalmology
Jose-Alain Sahel, Kate Grieve, Chloe Pagot, Colas Authie, Saddek Mohand-Said, Michel Paques, Isabelle Audo, Karine Becker, Anne-Elisabeth Chaumet-Riffaud, Line Azoulay, Emmanuel Gutman, Thierry Leveillard, Christina Zeitz, Serge Picaud, Deniz Dalkara, Katia Marazova
Summary: The study found a weak correlation between visual acuity and retinal structural variables, while functional impairment was associated with reduction in anatomical markers of photoreceptor structure and increased width of autofluorescent ring. Flood-illumination adaptive optics imaging revealed various phenotypes, and mobility assessment under different lighting conditions showed correlations with visual field, visual acuity, contrast sensitivity, and dark adaptation.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2021)
Review
Obstetrics & Gynecology
Saverio Frosini, Fabrizio Franco, Giulio Vicini, Cristina Nicolosi, Gaia Varriale, Carlo Dani, Gianni Virgili, Fabrizio Giansanti
Summary: This retrospective study analyzed the experience in the management of type 1 ROP and APROP in premature infants. The results demonstrated the effectiveness and safety of IVB in the treatment of ROP.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2022)
Article
Ophthalmology
Fabrizio Gaetano Saverio Franco, Cristina Nicolosi, Giulio Vicini, Piero Grasso Cannizzo, Gianni Virgili, Fabrizio Giansanti
Summary: This study demonstrates the successful correction of complex spherical-cylindrical refractive defects in a case of abnormal cornea and cataract using a combination of primary and piggyback IOL implantation.
EUROPEAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Ophthalmology
Giulia Scondotto, Janet Sultana, Maria Vadala, Teresio Avitabile, Salvatore Cillino, Saveria Serena Foti, Luca Labbate, Antonio Longo, Eliana Mirabelli, Maria Rosalia Puzo, Carlo Rapisarda, Patricia Ibanez Toro, Costantino J. Trombetta, Gianluca Trifiro, Gianni Virgili
Summary: This study explores the drug utilization and clinical outcomes of intravitreal anti-VEGF drug and dexamethasone use in Southern Italy, using data from a multi-centre study. The findings show that intravitreal ranibizumab is the most commonly used drug, accounting for half of the treatment for retinal diseases in the outpatient setting. Patients treated with anti-VEGF drugs for age-related macular degeneration and retinal vein occlusion experienced significant improvement in visual acuity.
EUROPEAN JOURNAL OF OPHTHALMOLOGY
(2022)
Editorial Material
Ophthalmology
M. Michelessi, A. Azuara-Blanco, G. Virgili
Article
Medicine, General & Internal
Jeffrey S. Heier, Arshad M. Khanani, Carlos Quezada Ruiz, Karen Basu, Philip J. Ferrone, Christopher Brittain, Marta S. Figueroa, Hugh Lin, Frank G. Holz, Vaibhavi Patel, Timothy Y. Y. Lai, David Silverman, Carl Regillo, Balakumar Swaminathan, Francesco Viola, Chui Ming Gemmy Cheung, Tien Y. Wong
Summary: The primary results of two Phase 3 trials show that faricimab can effectively improve visual acuity for patients with nAMD at intervals of up to 16 weeks, with comparable safety profile to aflibercept. This suggests that faricimab has the potential to reduce treatment burden by extending the time between injections while maintaining efficacy.
Article
Medicine, General & Internal
Charles C. Wykoff, Francis Abreu, Anthony P. Adamis, Karen Basu, David A. Eichenbaum, Zdenka Haskova, Hugh Lin, Anat Loewenstein, Shaun Mohan, Ian A. Pearce, Taiji Sakamoto, Patricio G. Schlottmann, David Silverman, Jennifer K. Sun, John A. Wells, Jeffrey R. Willis, Ramin Tadayoni
Summary: This study demonstrates the efficacy and safety of faricimab in patients with diabetic macular edema. Treatment with faricimab every 8 weeks or personalized treatment interval dosing achieved non-inferiority and had good tolerability.
Review
Ophthalmology
Jennifer R. Evans, John G. Lawrenson, Jacqueline Ramke, Gianni Virgili, Iris Gordon, Gareth Lingham, Sumrana Yasmin, Stuart Keel
Summary: This study aims to provide high-quality evidence to support the development of eye care interventions by evaluating clinical practice guidelines. The findings suggest that there is a lack of recommendations for the prevention and treatment of refractive error in low- and middle-income countries.
OPHTHALMIC AND PHYSIOLOGICAL OPTICS
(2022)
Article
Medicine, General & Internal
Fabrizio Giansanti, Giulio Vicini, Andrea Sodi, Cristina Nicolosi, Lavinia Bellari, Gianni Virgili, Stanislao Rizzo, Daniela Bacherini
Summary: Optical coherence tomography angiography (OCTA) revealed vascular abnormalities in patients with retinitis pigmentosa (RP), which were associated with choroidal atrophy and visual acuity loss.
Article
Ophthalmology
Giulia Coco, Hannah J. Levis, Alfredo Borgia, Davide Romano, Luca Pagano, Gianni Virgili, Stephen B. Kaye, Vito Romano
Summary: By evaluating the features of anterior segment optical coherence tomography (AS-OCT), it was found that posterior stromal ripples and detachment axial extension are the main risk factors for graft detachment worsening in Descemet's membrane endothelial keratoplasty (DMEK). Patients showing these features should be closely monitored to identify the need for re-bubbling at an early stage, thus improving surgical outcomes.
ACTA OPHTHALMOLOGICA
(2023)
Article
Medicine, General & Internal
Nathan Houchens, Sanjay Saint, Christopher Petrilli, Latoya Kuhn, David Ratz, Lindsey De Lott, Marc Zollinger, Hugo Sax, Kazuhiro Kamata, Akira Kuriyama, Yasuharu Tokuda, Carlo Fumagalli, Gianni Virgili, Stefano Fumagalli, Vineet Chopra
Summary: Patients have specific preferences for physician attire, with variations based on country and physician type. A one-size-fits-all dress policy is unlikely to meet patient desires and expectations, and a tailored approach should be sought based on clinical context.
Article
Medicine, General & Internal
Katie Curran, Nathan Congdon, Tung Thanh Hoang, Lynne Lohfeld, Van Thu Nguyen, Hue Thi Nguyen, Quan Nhu Nguyen, Catherine Dardis, Gianni Virgili, Prabhath Piyasena, Huong Tran, Recivall Pascual Salongcay, Mai Quoc Tung, Tunde Peto
Summary: This study compares the accuracy of trained diabetic retinopathy (DR) graders at different levels in Vietnam and evaluates the impact of targeted grader training. The results show that targeted training interventions can improve the accuracy of DR grading, which is important for improving service delivery in DR screening programs in low-resource settings.
Editorial Material
Ophthalmology
Tianjing Li, Richard S. Davidson, Gianni Virgili
JAMA OPHTHALMOLOGY
(2022)
Article
Biology
Fabrizio Giansanti, Stefano Mercuri, Lorenzo Vannozzi, Andrea Govetto, Angelo Maria Minnella, Tomaso Caporossi, Alfonso Savastano, Maria Cristina Savastano, Gloria Gambini, Stanislao Rizzo, Gianni Virgili, Daniela Bacherini
Summary: This study investigated acute posterior syphilitic placoid chorioretinopathy (ASPPC) using adaptive optics. The findings showed reconstitution of the outer retinal layers and improvement in vessel density and vessel perfusion during treatment. Adaptive optics imaging was able to identify outer retinal alterations at diagnosis and monitor their improvement over time.
Article
Medicine, General & Internal
Augusto Azuara-Blanco, John G. Lawrenson, Anthony J. King, Paul J. Foster, Gianni Virgili, Mary Guiney, Winnie Nolan, Anish Jindal, Meenakshi Sharma, Ciaran O'Neill, Christopher R. Cardwell, Mike Clarke
Summary: Angle-closure is a major cause of glaucoma blindness worldwide. This study aims to evaluate the diagnostic performance and cost-effectiveness of two non-contact tests (AS-OCT and gonioscopy) for patients with suspected angle closure.
Article
Ophthalmology
Fabrizio Franco, Marco Branchetti, Lidia Vicchio, Federica Serino, Marco Piergentili, Vito Spagnuolo, Francesca Santoro, Gianni Virgili, Fabrizio Giansanti
Summary: The study evaluates the visual acuity and satisfaction in patients with corneal irregularities and high order aberrations (HOAs) who cannot undergo refractive surgery and have undergone IC-8 lens implantation. The results show improvement in visual acuity and subjective visual function without visual field defects. This study emphasizes the importance of IC-8 lenses for patients unable to receive customized refractive surgery.
JOURNAL OF OPHTHALMIC & VISION RESEARCH
(2022)
