Article
Biochemistry & Molecular Biology
Javier Martinez-Gonzalez, Angel Fernandez-Carbonell, Antolin Canto, Roberto Gimeno-Hernandez, Inmaculada Almansa, Francisco Bosch-Morell, Maria Miranda, Teresa Olivar
Summary: This study demonstrates alterations in microglia and macroautophagy in an RP mouse model during the early stages of the disease. It suggests that inflammation and macroautophagy processes could be potential treatment alternatives for RP, while chaperone-mediated autophagy could be a therapeutic target in later stages. These findings provide important insights into the pathogenesis of RP and the development of treatment strategies.
Article
Biochemistry & Molecular Biology
Tongdan Zou, Ting Wang, Fangyuan Zhen, Xu He, Shuqian Dong, Houbin Zhang
Summary: Exogenous expression of PDE5 prevents photoreceptor degeneration and promotes outer segment development in RD1 mice. Unlike the photoreceptor-specific PDE6, PDE5 shows different distribution and expression patterns. Lowering cGMP levels in photoreceptors rescues photoreceptors in RD1 retinas.
CURRENT MEDICINAL CHEMISTRY
(2022)
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
Biochemistry & Molecular Biology
Yujie Dong, Wenrong Xu, Yan Li, Chunling Wei, Yunzhang Hu, Zhulin Hu, Francois Paquet-Durand, Kangwei Jiao
Summary: This study investigated the effect of early growth response-1 (EGR1) expression on photoreceptor cell death in rd1 mice and its mechanism of action. The results showed differential expression of ERG1 in rd1 and WT mice and demonstrated the relationship between EGR1 and PARP1. Inhibition of the MAPK/c-Jun pathway reduced the expression of EGR1 and PARP1 and prevented photoreceptor cell death.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
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
Genetics & Heredity
Guillaume Olivier, Philippe Brabet, Nelly Pirot, Morgane Broyon, Laurent Guillou, Chantal Cazevieille, Chamroeun Sar, Melanie Quiles, Emmanuelle Sarzi, Marie Pequignot, Ervann Andreo, Agathe Roubertie, Isabelle Meunier, Agnes Muller, Vasiliki Kalatzis, Gael Manes
Summary: Several pathogenic variants in the IMPG1 gene are associated with inherited retinal disorders. This study demonstrates the essential role of SPACR, encoded by IMPG1, in maintaining photoreceptors and provides a novel mouse model for investigating and developing therapies for VMD and RP.
Review
Neurosciences
Jiajia Wu, Corey M. Rountree, Sai-Siva Kare, Pradeep Kumar Ramkumar, John D. Finan, John B. Troy
Summary: This article reviews the progress in chemical retinal prosthesis research over the past decade, discussing its advantages, resolution, materials, and biocompatibility, while considering potential issues.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2022)
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
Penelope J. Allen
Summary: Researchers have been working on developing retinal prostheses, or bionic eyes, since the 1960s to restore functional vision to severely visually impaired patients. Despite clinical trials and regulatory approvals, the challenges of developing suitable devices for implantation and commercial distribution remain significant. Ongoing research is focusing on simpler surgery and improved visual processing algorithms to provide a viable commercial alternative.
CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
(2021)
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
Biochemistry & Molecular Biology
Ivona Bucan, Mirjana Bjelos, Irena Markovic, Diana Bucan
Summary: This article presents a rare case of a proven mutation in the RP1 gene in a kidney transplant patient. The patient showed signs of retinitis pigmentosa during an eye examination, and genetic testing confirmed a mutation in the RP1 gene. It is unclear why this gene mutation is specifically associated with retinal function and not with hypertension and renal disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Debora Napoli, Martina Biagioni, Federico Billeri, Beatrice Di Marco, Noemi Orsini, Elena Novelli, Enrica Strettoi
Summary: The study reveals structural abnormalities in the RPE of RP patients, leading to dysfunction of the inner barrier. Findings also suggest a correlation between the extent of photoreceptor loss and interruption zones of ZO-1. Treatment with dexamethasone in RP mice not only rescues cones but also restores RPE structure, highlighting a potential feedback loop for simultaneous protection of cones and the RPE.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Ophthalmology
Jacque L. Duncan, Peiyao Cheng, Maureen G. Maguire, Allison A. Ayala, David G. Birch, Janet K. Cheetham, Todd A. Durham, Abigail T. Fahim, Carel B. Hoyng, Hiroshi Ishikawa, Michel Michaelides, Mark E. Pennesi, Jose-Alain Sahel, Katarina Stingl, Christina Y. Weng
Summary: A prospective observational study was conducted on 102 patients with USH2A-related retinal degeneration over a period of two years. It was found that quantitative measures of static perimetry significantly declined during this time. The greatest changes were observed in the full field and peripheral vision, while the central vision showed the least change.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Genetics & Heredity
Pankhuri Gupta, Kenji Nakamichi, Alyssa C. C. Bonnell, Ryan Yanagihara, Nick Radulovich, Fuki M. M. Hisama, Jennifer R. R. Chao, Debarshi Mustafi
Summary: Phasing genetic variants is crucial for identifying potential disease-causing variants. Reclassification of variants of uncertain significance (VUS) in autosomal recessive inherited retinal diseases (IRDs) can lead to a genetic diagnosis when combined with familial co-segregation analysis. This study reports four cases where a VUS was found to be trans to a known pathogenic variant through familial co-segregation, resulting in the reclassification of the VUS to likely pathogenic and a genetic diagnosis. Additionally, targeted long-read sequencing was utilized to infer variant phasing in a simplex patient without access to family members for co-segregation analysis. This emerging method provides a solution for cases where genetic testing of family members is unfeasible, allowing for a complete genetic diagnosis.
NPJ GENOMIC MEDICINE
(2023)
Article
Multidisciplinary Sciences
Divya Ail, Diane Nava, In Pyo Hwang, Elena Brazhnikova, Celine Nouvel-Jaillard, Alexandre Dentel, Corentin Joffrois, Lionel Rousseau, Julie Degardin, Stephane Bertin, Jose-Alain Sahel, Olivier Goureau, Serge Picaud, Deniz Dalkara
Summary: To test novel therapies, suitable nonhuman primate models are needed, but there is a lack of relevant macaque models of retinal degeneration. Researchers have generated three distinct inducible cynomolgus macaque models of retinal degeneration to address this issue. Among the three models, the CRISPR-Cas9-based approach is the most advantageous for recapitulating disease-specific features and ease of implementation. The acute model, on the other hand, degenerates the fastest and is the most relevant for testing end-stage vision restoration therapies.
Review
Ophthalmology
Erica L. Fletcher, Michael A. Dixon, Samuel A. Mills, Andrew I. Jobling
Summary: Diabetic retinopathy is the most feared complication for those with diabetes. Recent studies have shown that a range of cellular changes occur in the retina from an early stage of diabetes, including a loss of vasoregulation in response to changes in neural activity. Retinal immune cells, microglia, play an important role in mediating vasoconstriction. These findings highlight the significance of early changes in vascular regulation to the progression of diabetic retinopathy.
CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
(2023)
Article
Ophthalmology
Renita Maria Martis, Luis James Knight, Monica L. Acosta, Joanna Black, Robert Ng, Lilian Chen Lian Ji, Paul James Donaldson, Julie Ching-Hsia Lim
Summary: This study examined the role of the cystine/glutamate antiporter on retinal structure and function using xCT knockout mice. The findings showed the presence of retinal spots and increased GFAP labeling in the knockout mice, indicating retinal stress. Focal changes in retinal function were also observed in areas where the spots were present. Overall, these results suggest that the xCT knockout mice exhibit features of accelerated aging and may serve as a useful model for studying the cellular pathways involved in retinal aging.
EXPERIMENTAL EYE RESEARCH
(2023)
Review
Ophthalmology
Sharon Ho, Angelica Ly, Kyoko Ohno-Matsui, Michael Kalloniatis, Gordon S. Doig
Summary: The purpose of this study was to evaluate the diagnostic accuracy of OCTA and OCT for mCNV through a systematic review and meta-analysis. FA was considered as the reference standard. The test accuracy of OCTA and/or OCT for diagnosing mCNV was assessed by searching studies in PUBMED and EMBASE databases. Pooled estimates of test accuracy were obtained using a bivariate model.
Article
Ophthalmology
Janelle Tong, Jack Phu, David Alonso-Caneiro, Sieu K. Khuu, Michael Kalloniatis
Summary: This study compares the thickness of different retinal layers in glaucoma patients and healthy eyes. The results show that the inner nuclear layer and ganglion cell-inner plexiform layer are thinner in glaucoma patients, while the outer retinal complex is less affected. These findings suggest that trans-synaptic retrograde degeneration may occur in glaucoma, and the inner nuclear layer thickness may be useful in evaluating glaucomatous damage.
OPHTHALMIC AND PHYSIOLOGICAL OPTICS
(2023)
Article
Genetics & Heredity
Dongmao Wang, Paul Trevillian, Stephen May, Peter Diakumis, Yanyan Wang, Deb Colville, Melanie Bahlo, Una Greferath, Erica Fletcher, Barbara Young, Heather G. Mack, Judy Savige
Summary: Scalp-Ear-Nipple syndrome, caused by pathogenic KCTD1 variants, is characterized by scalp defect, prominent ears, and rudimentary breasts. This study found further clinical associations in the eye and kidney.
OPHTHALMIC GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Odunayo O. Mugisho, Jyoti Aryal, Avik Shome, Heather Lyon, Monica L. Acosta, Colin R. Green, Ilva D. Rupenthal
Summary: The ocular safety and efficacy of tonabersat were evaluated in an inflammatory NOD mouse model of diabetic retinopathy (DR). The results showed that tonabersat significantly reduced inflammation and disease progression, suggesting that it may be an effective treatment for DR.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Anatomy & Morphology
Mohd N. Mat Nor, Cindy X. X. Guo, Colin R. Green, David Squirrell, Monica L. Acosta
Summary: The study aimed to investigate the correlation between small dot hyper-reflective foci (HRF) observed in optical coherence tomography scans of a diabetic retinopathy animal model and focal electroretinography response and immunolabelling of retinal markers. The results showed that small dot HRF were frequently seen in OCT scans in all retinal quadrants and were associated with reduced retinal function. Microglial activation and retinal stress were detected around the HRF, providing evidence of a local microglia-mediated inflammatory component. This study highlights the importance of evaluating microglial response in diseases showing HRF.
JOURNAL OF ANATOMY
(2023)
Article
Ophthalmology
Elisa Wang, Michael Kalloniatis, Angelica Ly
Summary: The study aimed to explore effective health communication for AMD from the perspectives of both patients and eyecare practitioners. The findings highlight the importance of high-quality and relevant materials, individualized and disease-specific contextualization, and the establishment of a support network. Patients expressed concerns about unrealistic depictions of vision loss in AMD and preferred tailored education materials and opportunities for questions. Longer appointment durations and peer support were also valued.
OPHTHALMIC AND PHYSIOLOGICAL OPTICS
(2023)
Article
Ophthalmology
Daniel Rafla, Sieu K. Khuu, Sahana Kashyap, Michael Kalloniatis, Jack Phu
Summary: The study aimed to determine if there are measurable structural or functional differences between high-tension glaucoma (HTG) and low-tension glaucoma (LTG) at diagnosis. The clinical data of 90 newly diagnosed HTG patients and 319 newly diagnosed LTG patients were analyzed, including demographic information, optical coherence tomography measurements, and perimetry global metrics. Logistic regression and principal component analysis were performed to identify significant parameters distinguishing between the two groups. The results showed limited separability between HTG and LTG, suggesting the heterogeneity of glaucoma presentations.
OPHTHALMIC AND PHYSIOLOGICAL OPTICS
(2023)
Article
Ophthalmology
Junjun Pan, Sharon Ho, Angelica Ly, Michael Kalloniatis, Arcot Sowmya
Summary: The purpose of this study was to develop an automated method for recognizing age-related macular degeneration in color fundus photographs that takes into account confounders and normal age-related changes. The method uses drusen masks for spatial feature supervision and incorporates prior knowledge of drusen features into the neural network. The algorithm achieved excellent discrimination results on both public and private datasets.
OPHTHALMIC AND PHYSIOLOGICAL OPTICS
(2023)
Article
Anatomy & Morphology
Hallur Reynisson, Michael Kalloniatis, Erica L. Fletcher, Mohit N. Shivdasani, Lisa Nivison-Smith
Summary: A hallmark of photoreceptor degenerations is progressive, aberrant remodeling of the surviving retinal neurons and glia following photoreceptor loss. This study assessed the relationship between Muller cell dysfunction and retinal neuron subpopulations in late-stage retinal degeneration, finding that glia-neuronal alterations play a significant role. These findings highlight the importance of further research and intervention development in this field.
FRONTIERS IN NEUROANATOMY
(2023)
Article
Ophthalmology
Ursula Greferath, Erica Fletcher, Judy Savige, Heather G. Mack
Summary: Retinal drusen are uncommon in IgA nephropathy, but they resemble drusen found in age-related macular degeneration. The IgA-staining deposits in the drusen are likely related to systemic deposition of IgA. The nature of cystic spaces in the drusen is still unknown. Further research on the retinas of people with glomerulonephritis is recommended.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2024)
Article
Ophthalmology
Jack Phu, Henrietta Wang, Michael Kalloniatis
Summary: The purpose of this study was to compare the clinical visual field results obtained from the HFA and VF perimetry in glaucoma and healthy patients. The results showed that virtual reality returns global results correlated with the HFA, but pointwise sensitivities were more variable. Furthermore, the differences in test-retest variability and defect detection by the current normative database raise questions about the widespread adoption of VF instead of the HFA.
OPHTHALMIC AND PHYSIOLOGICAL OPTICS
(2023)
Article
Ophthalmology
Jeremy C. K. Tan, Jack Phu, Denise Go, Doan Nguyen, Katherine Masselos, Allan Bank, Michael Kalloniatis, Ashish Agar
Summary: The study shows that using frontloaded SFR tests provides repeatable data for evaluating visual field defects in glaucoma patients. The duration and reliability of frontloaded SFR tests are comparable to a single SS test.
Article
Ophthalmology
He-Yan Li, Li Dong, Xu-Han Shi, Rui-Heng Zhang, Wen-Da Zhou, Hao-Tian Wu, Chu-Yao Yu, Yi-Tong Li, Yi-Fan Li, Jost B. Jonas, Wen-Bin Wei, Yue-Ming Liu
Summary: This study aimed to examine the intraocular tolerability of cetuximab when applied intravitreally, and its effect on axial elongation. The results showed that intravitreal injections of cetuximab could reduce axial elongation in a dose-dependent and number of treatment-dependent manner, without causing intraocular toxic effects.
EXPERIMENTAL EYE RESEARCH
(2024)
Article
Ophthalmology
James D. Cole, John A. McDaniel, Joelle Nilak, Ashley Ban, Carlos Rodriguez, Zuhaad Hameed, Marta Grannonico, Peter A. Netland, Hu Yang, Ignacio Provencio, Xiaorong Liu
Summary: Aniridia is a panocular condition characterized by the loss of iris, caused mainly by mutations in the PAX6 gene. This study assessed the effects of Pax6-haploinsufficiency on retinal morphology and vision in Pax6Sey mice. The results showed elevated intraocular pressure and declining visual acuity in Pax6Sey mice, along with local retinal damage and a possible neuroinflammatory response.
EXPERIMENTAL EYE RESEARCH
(2024)
Article
Ophthalmology
Subao Jiang, Ning Xia, Francesco Buonfiglio, Elsa W. Boehm, Qi Tang, Norbert Pfeiffer, Dominik Olinger, Huige Li, Adrian Gericke
Summary: This study found that a high-fat diet induces endothelial dysfunction in the ophthalmic artery, leading to impaired vascular function in the eye. The high-fat diet triggers oxidative stress and involves RAGE and NOX2.
EXPERIMENTAL EYE RESEARCH
(2024)
Review
Ophthalmology
Mala Upadhyay, Vera L. Bonilha
Summary: The sodium iodate (NaIO3) model is a valuable tool in studying dry AMD and evaluating the retinal structure. Through extensive research, it has been found that the death of RPE cells caused by NaIO3 injection is closely related to vision loss in patients with dry AMD. Therefore, studying NaIO3 can provide insights into the mechanisms of RPE and photoreceptor cell death and contribute to understanding RPE degeneration in AMD.
EXPERIMENTAL EYE RESEARCH
(2024)
Article
Ophthalmology
Vicki Chrysostomou, Katharina C. Bell, Sze Woei Ng, Samyuktha Suresh, Gayathri Karthik, Marion Millet, Yingying Chung, Jonathan G. Crowston
Summary: We present a new experimental model for inducing retinal ganglion cell (RGC) dysfunction and degeneration in mice. This model allows for the reliable induction of RGC dysfunction and loss, with the resilience of the optic nerve being dependent on the age of the animal. The time-defined nature of the functional and structural changes observed in this model will facilitate the study of glial responses and the evaluation of neuroprotective treatments after intraocular pressure (IOP) injury.
EXPERIMENTAL EYE RESEARCH
(2024)
