Article
Medicine, General & Internal
Ashley A. Rowe, Xin Chen, Emily R. Nettesheim, Yacine Issioui, Thomas Dong, Yuhui Hu, Souad Messahel, Saima N. Kayani, Steven J. Gray, Katherine J. Wert
Summary: The study highlights the rapid degeneration of retina in CLN7 Batten disease patients. By investigating a preclinical model, the researchers identified early signs of photoreceptor damage and gained a better understanding of the mechanism behind retinal degeneration. These findings contribute to the development of therapeutic strategies for patients and provide insights for future clinical trials.
Article
Neurosciences
Glyn Chidlow, Weng Onn Chan, John P. M. Wood, Robert J. Casson
Summary: Retinal detachment in rats caused rapid and sustained loss of cone opsins, with S-opsin(+) cones affected earlier and to a greater extent than M/L-opsin(+) cones. The decrease in cone opsins may not indicate cone degeneration, but rather prolonged downregulation of specific proteins. Experimental detachment in rats could serve as a useful model for studying the response of S-cones to retinal detachment in humans.
MOLECULAR NEUROBIOLOGY
(2022)
Article
Multidisciplinary Sciences
Sze Hui New, Sue Ngein Leow, Suresh Kumar Vasudevan, Idayu Badilla Idris, Seng Fai Tang, Norshamsiah Md Din
Summary: Retinal nerve fiber layer thinning was more prominent than macular thinning in patients with metabolic syndrome, suggesting a greater susceptibility of the RNFL to neurodegeneration. A higher number of metabolic components and elevated triglyceride levels were identified as independent risk factors for retinal thinning in this group of patients.
Article
Neurosciences
Katie K. N. Tran, Vickie H. Y. Wong, Anh Hoang, David I. Finkelstein, Bang V. Bui, Christine T. O. Nguyen
Summary: This study investigates the retinal changes in a PD model of alpha-SYN overexpression and their correlation with the presence of retinal alpha-SYN. The findings suggest that these retinal signatures may serve as useful in vivo endpoints for PD drug discovery.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Multidisciplinary Sciences
Xiaofan Jiang, Zihe Xu, Talha Soorma, Ambreen Tariq, Taha Bhatti, Alexander J. Baneke, Nikolas Pontikos, Shaun M. Leo, Andrew R. Webster, Katie M. Williams, Christopher J. Hammond, Pirro G. Hysi, Omar A. Mahroo
Summary: This study found an association between myopia and a genetic variant near the GJD2 gene, suggesting a potential role for altered signaling in cone-driven pathways in the development of myopia.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Ophthalmology
Mustapha El Hamdaoui, Alexander M. Levy, Aaron B. Stuber, Christopher A. Girkin, Timothy W. Kraft, Brian C. Samuels, Rafael Grytz
Summary: Scleral crosslinking using genipin is a promising treatment option for myopia control, but its safety is still unclear. This study investigated the effects of retrobulbar injections of genipin on retinal structure and function in tree shrews. The results showed that genipin injections caused retinal thinning and reduced retinal function, with higher doses leading to noticeable tissue degeneration.
EXPERIMENTAL EYE RESEARCH
(2022)
Article
Medicine, General & Internal
Si-Eun Oh, Hee-Jong Shin, Chan-Kee Park, Hae-Young Lopilly Park
Summary: Superficial and deep macular vessel density is decreased in glaucoma patients. We evaluated the vascular changes in the axon and soma/dendrite of retinal ganglion cells using adjusted macular segmentation. A lower GC/IPL VD ratio was associated with lower RNFL VD and systemic hypertension. Patients with reduced GC/IPL VD ratio were more likely to have visual field defects and paracentral scotoma, as well as receive treatment for systemic hypertension.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Ophthalmology
Zane Zenon Zemborain, Emmanouil Tsamis, Sol La Bruna, Ari Leshno, Carlos Gustavo De Moraes, Donald Charles Hood
Summary: This study successfully tested a model of retinal nerve fiber bundle trajectories that can predict arcuate-shaped patterns seen on optical coherence tomography (OCT) images and also predicted associated abnormal regions. This has important implications for clinicians in understanding and analyzing comparisons among different OCT images.
TRANSLATIONAL VISION SCIENCE & TECHNOLOGY
(2022)
Article
Medicine, General & Internal
Dmitrii S. Maltsev, Alexei N. Kulikov, Yaroslava V. Volkova, Maria A. Burnasheva, Alexander S. Vasiliev
Summary: This study found that the number of macrophage-like cells (MLC) on the inner retinal surface increases in eyes with retinal vein occlusions (RVO), which may be related to the activation of inflammatory pathways. Eyes with subfoveal fluid have a higher number of MLC.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Samuel G. Jacobson, Artur V. Cideciyan, Alexander Sumaroka, Alejandro J. Roman, Vivian Wu, Malgorzata Swider, Rebecca Sheplock, Arun K. Krishnan, Alexandra V. Garafalo
Summary: Gene augmentation therapy is planned for GUCY2D-associated Leber congenital amaurosis. Results show variability in disease expression severity among patients, but no major negative changes in structure or function were observed over the study intervals.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Ophthalmology
Yuji Yoshikawa, Takuhei Shoji, Junji Kanno, Hirokazu Ishii, Minami Chino, Yuro Igawa, Kei Shinoda, Yozo Miyake
Summary: This study evaluated the correlation between macular retinal function and changes in macular retinal vascular structure in glaucomatous eyes. The results showed that macular vessel density in the deep retinal layer had a significant positive correlation with P1-N1 amplitude. This suggests that ischemia-induced bipolar cell dysfunction may be involved in intermediate retinal dysfunction associated with glaucoma.
TRANSLATIONAL VISION SCIENCE & TECHNOLOGY
(2022)
Article
Multidisciplinary Sciences
Yun Jeong Lee, Ki Ho Park, Jin Wook Jeoung
Summary: This study investigated the rates, patterns, and associated factors for false-positive classification of deviation maps by Spectralis OCT. The results showed that the false-positive rates were highest on the ganglion cell layer map, followed by the inner plexiform layer, retinal layer, and retinal nerve fiber layer (RNFL) maps. A more myopic/less hyperopic refractive error was significantly associated with higher false-positive classification on the RNFL deviation map, and three false-positive patterns were found on the segmented macular layers deviation maps. Therefore, careful interpretation of Spectralis OCT deviation maps is necessary, especially for eyes with higher degrees of myopic refractive error on the RNFL map, and recognizing the characteristic false-positive patterns would be helpful in clinical practice.
SCIENTIFIC REPORTS
(2023)
Article
Biochemistry & Molecular Biology
Gerhard Garhoefer, Ahmed M. Bata, Alina Popa-Cherecheanu, Anton Hommer, Clemens Vass, Hemma Resch, Doreen Schmidl, Rene M. Werkmeister, Leopold Schmetterer
Summary: This study found that patients with POAG have reduced total retinal oxygen extraction, which is associated with structural and functional damage of the disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Ophthalmology
Nimesh B. Patel, Louvenia Carter-Dawson, Laura J. Frishman
Summary: This study found that the optic nerve head's response to transient changes in intraocular pressure is associated with features of the optic nerve head and surrounding tissues. The neural rim properties at baseline and the extent of axial elongation are associated with the severity of glaucomatous loss in the nonhuman primate model.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2023)
Article
Immunology
Christina Noll, Michael Hiltensperger, Lilian Aly, Rebecca Wicklein, Ali Maisam Afzali, Christian Mardin, Christiane Gasperi, Achim Berthele, Bernhard Hemmer, Thomas Korn, Benjamin Knier
Summary: This study found that rarefication of the retinal vasculature during RRMS is associated with higher frequencies of activated B cells and higher levels of pro-inflammatory cytokines in the cerebrospinal fluid. Furthermore, vessel loss in the retina is linked to future disability worsening.
FRONTIERS IN IMMUNOLOGY
(2022)
Letter
Ophthalmology
Matthew P. Quinn, Leslie D. MacKeen, Ajoy Vincent, Yi Ning J. Strube
CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE
(2021)
Article
Ophthalmology
Kit Green Sanderson, Eoghan Millar, Anupreet Tumber, Regan Klatt, Neal Sondheimer, Ajoy Vincent
Summary: This is the first documented case of an electronegative ERG in a POLG-related disorder, demonstrating wide phenotypic overlap. The patient exhibited systemic symptoms in addition to ophthalmological features and carried a homozygous mutation in POLG.
DOCUMENTA OPHTHALMOLOGICA
(2021)
Article
Ophthalmology
Michalis Georgiou, Anthony G. Robson, Kaoru Fujinami, Shaun M. Leo, Ajoy Vincent, Fadi Nasser, Thales Antonio Cabral De Guimaraes, Samer Khateb, Nikolas Pontikos, Yu Fujinami-Yokokawa, Xiao Liu, Kazushige Tsunoda, Takaaki Hayashi, Mauricio E. Vargas, Alberta A. H. J. Thiadens, Emanuel R. De Carvalho, Xuan-Thanh-An Nguyen, Gavin Arno, Omar A. Mahroo, Maria Inmaculada Martin-Merida, Belen Jimenez-Rolando, Gema Gordo, Ester Carreno, Ayuso Carmen, Dror Sharon, Susanne Kohl, Rachel M. Huckfeldt, Bernd Wissinger, Camiel J. F. Boon, Eyal Banin, Mark E. Pennesi, Arif O. Khan, Andrew R. Webster, Eberhart Zrenner, Elise Heon, Michel Michaelides
Summary: Through a study of genetics, electrophysiology, and clinical course in 117 patients, KCNV2-associated retinopathy was found to have early onset, leading to decreased visual acuity and various other symptoms. Full-field ERGs are crucial for diagnosis of the disease, patients require long-term follow-up, and further trials of novel therapeutics are needed.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Laurence M. Occelli, Anahita Daruwalla, Samantha R. De Silva, Paige A. Winkler, Kelian Sun, Nathaniel Pasmanter, Andrea Minella, Janice Querubin, Leslie A. Lyons, Anthony G. Robson, Elise Heon, Michel Michaelides, Andrew R. Webster, Krzysztof Palczewski, Ajoy Vincent, Omar A. Mahroo, Philip D. Kiser, Simon M. Petersen-Jones
Summary: This article introduces a novel cat model associated with RDH5 gene mutation, which replicates the development of macular atrophy in patients, and has the potential to improve molecular understanding and test therapeutic interventions.
HUMAN MOLECULAR GENETICS
(2022)
Article
Clinical Neurology
Alessandro Orsini, Daniele Ferrari, Antonella Riva, Andrea Santangelo, Angelo Macri, Elena Freri, Laura Canafoglia, Alfredo D'Aniello, Giancarlo Di Gennaro, Gabriele Massimetti, Carlo Minetti, Federico Zara, Roberto Michelucci, Anupreet Tumber, Ajoy Vincent, Berge Arakel Minassian, Pasquale Striano
Summary: This study provides further evidence of early retinal alterations in LD patients. The degree of cones and rods dysfunction is related to disease duration.
JOURNAL OF NEUROLOGY
(2022)
Article
Ophthalmology
Mariana Flores Pimentel, Anna Heath, Michael J. Wan, Rowaida Hussein, Kate E. Leahy, Heather MacDonald, Erika Tavares, Cynthia VandenHoven, Katelyn MacNeill, Peter Kannu, Patricia C. Parkin, Elise Heon, Arun Reginald, Ajoy Vincent
Summary: CAs are more prevalent than LNs in pediatric NF1 patients regardless of age and MCD status. Combining ophthalmological exams with near-infrared imaging will increase the diagnostic reach in pediatric NF1.
TRANSLATIONAL VISION SCIENCE & TECHNOLOGY
(2022)
Article
Oncology
Ana Janic, Ajoy Vincent, Jennifer Stinson, Helen Dimaras
Summary: This study aimed to uncover the treatment outcomes that retinoblastoma survivors and their parents value, in order to inform the development of a future measure. Through focus groups and individual interviews, important themes were identified, including the definition of treatment success, acceptance and challenges of enucleation, treatment outcomes to measure, and the need for outcome reporting. These findings provide valuable insights to improve outcomes assessment for retinoblastoma.
JCO ONCOLOGY PRACTICE
(2022)
Review
Ophthalmology
Kavin Selvan, Maria F. Abalem, Gabrielle D. Lacy, Ajoy Vincent, Elise Heon
Summary: Patient-reported outcome measures (PROMs) assess health outcomes meaningful to the patient and have multiple applications. A literature search found no PROM tailored to pediatric patients with inherited retinal disease (IRD).
OPHTHALMOLOGY AND THERAPY
(2022)
Article
Genetics & Heredity
Anna Dvaladze, Erika Tavares, Matteo Di Scipio, Graeme Nimmo, Monika K. Grudzinska-Pechhacker, Tara Paton, Anupreet Tumber, Shuning Li, Christabel Eileen, Birgit Ertl-Wagner, Eva Mamak, Georg Hoffmann, Christian R. Marshall, Dorothea Haas, Ertan Mayatepek, Andreas Schulze, Elise Heon, Ajoy Vincent
Summary: Non-syndromic retinitis pigmentosa (NSRP) is a group of clinically and genetically heterogeneous disorders. This study identified a novel genetic variant and highlighted the importance of variant validation and patient re-phenotyping in establishing accurate diagnosis in the era of genome sequencing.
Article
Biochemistry & Molecular Biology
Katarina Stingl, Britta Baumann, Pietro De Angeli, Ajoy Vincent, Elise Heon, Monique Cordonnier, Elfriede De Baere, Salmo Raskin, Mario Teruo Sato, Naoye Shiokawa, Susanne Kohl, Bernd Wissinger
Summary: Certain combinations of variants in exon 3 of OPN1LW and OPN1MW induce splicing defects and are associated with visual disorders. A novel exon 3 haplotype with a splicing defect has been identified in patients with cone dysfunction. The patients carrying this haplotype showed symptoms of Blue Cone Monochromacy or Bornholm Eye Disease with reduced visual acuity and color vision defects.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Ophthalmology
Eleonora M. Lad, Jacque L. Duncan, Wendi Liang, Maureen G. Maguire, Allison R. Ayala, Isabelle Audo, David G. Birch, Joseph Carroll, Janet K. Cheetham, Todd A. Durham, Abigail T. Fahim, Jessica Loo, Zengtian Deng, Dibyendu Mukherjee, Elise Heon, Robert B. Hufnagel, Bin Guan, Alessandro Iannaccone, Glenn J. Jaffe, Christine N. Kay, Michel Michaelides, Mark E. Pennesi, Ajoy Vincent, Christina Y. Weng, Sina Farsiu
Summary: This study investigates baseline mesopic fundus-guided microperimetry and spectral domain optical coherence tomography in USH2A-related retinal degeneration. The findings suggest that longer disease duration is associated with more severe retinal structure and function abnormalities, and there are correlations between microperimetry and optical coherence tomography metrics.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2022)
Article
Ophthalmology
Austin Pereira, Birgit Ertl-Wagner, Anupreet Tumber, Ajoy Vincent, Michael J. Wan
Summary: A rare case of bony overgrowth causing bilateral compressive optic neuropathy and outer retinopathy in a pediatric patient due to isolated vitamin A deficiency. Improvement in outer retinal changes was observed following vitamin A supplementation, but no functional improvement was achieved due to severe optic atrophy.
DOCUMENTA OPHTHALMOLOGICA
(2023)
Review
Ophthalmology
Christina Zeitz, Jerome E. Roger, Isabelle Audo, Christelle Michiels, Nuria Sanchez-Farias, Juliette Varin, Helen Frederiksen, Baptiste Wilmet, Jacques Callebert, Marie-Laure Gimenez, Nassima Bouzidi, Frederic Blond, Xavier Guilllonneau, Stephane Fouquet, Thierry Leveillard, Vasily Smirnov, Ajoy Vincent, Elise Heon, Jose-Alain Sahela, Barbara Kloeckener-Gruissemi, Florian Sennlaub, Catherine W. Morgansj, Robert M. Duvoisinj, Andrei V. Tkatchenko, Serge Picaud
Summary: Myopia is a common eye disorder caused by genetic and environmental factors. High myopia is often associated with rare inherited retinal disorders. Genes involved in myopia are related to various biological processes, including eye development, matrix organization, visual perception, circadian rhythms, and retinal signaling. Animal models mimicking myopia can help identify candidate genes implicated in human myopia. Complete congenital stationary night blindness represents an interesting model for studying myopia and retinal signaling defects. Transcriptome analysis in mouse models of cCSNB identified new candidate genes for myopia. Integration of transcriptomic data and genome-wide association studies provides insights into the potential mechanisms underlying myopia development in cCSNB subjects. These findings have implications for the development of pharmacological therapies for myopia.
PROGRESS IN RETINAL AND EYE RESEARCH
(2023)
Article
Genetics & Heredity
Kavin Selvan, Rebhi Abuzaitoun, Maria Fernanda Abalem, Ajoy Vincent, Chris A. A. Andrews, Gabrielle D. D. Lacy, Rafid Farjo, Karissa Kao, Krystal Kao, Gislin Dagnelie, David C. C. Musch, K. Thiran Jayasundera, Elise Heon
Summary: This study aimed to determine the validity of the Michigan Retinal Degeneration Questionnaire (MRDQ) and Michigan Vision-Related Anxiety Questionnaire (MVAQ) in adolescent patients with inherited retinal diseases (IRDs). The results showed that the MRDQ and MVAQ accurately detected the impact of IRD on daily activities in adolescents, and demonstrated validity and reliability for use in this patient population.
OPHTHALMIC GENETICS
(2023)
Article
Genetics & Heredity
Ajoy Vincent, Kashif Ahmed, Rowaida Hussein, Zorana Berberovic, Anupreet Tumber, Xiaochu Zhao, Berge A. Minassian
Summary: This study aimed to characterize the retinal phenotype in an Epm2a(-/-) mouse model and found significant LB deposition in the retina, which may provide a potential marker for monitoring treatment efficacy in mouse models.