Article
Ophthalmology
Steffen Schmitz-Valckenberg, Monika Fleckenstein, Moussa A. Zouache, Maximilian Pfau, Christian Pappas, Jill L. Hageman, Elvira Agron, Claire Malley, Tiarnan D. L. Keenan, Emily Y. Chew, Gregory S. Hageman
Summary: The study investigated the specific associations of the 2 most common genetic risk loci for AMD and found that these loci have differential effects on disease progression, possibly involving distinct biological mechanisms.
JAMA OPHTHALMOLOGY
(2022)
Article
Ophthalmology
Elvira Agron, Amitha Domalpally, Catherine A. Cukras, Traci E. Clemons, Qingyu Chen, Anand Swaroop, Zhiyong Lu, Emily Y. Chew, Tiarnan D. L. Keenan
Summary: A post hoc analysis of a cohort study revealed that eyes with reticular pseudodrusen (RPD) and individuals carrying ARMS2/HTRA1 risk alleles have a faster rate of geographic atrophy (GA) enlargement. However, the presence of RPD does not mediate the association between ARMS2/HTRA1 genotype and faster GA enlargement.
Review
Ophthalmology
Yang Pan, Yingbin Fu, Paul N. Baird, Robyn H. Guymer, Taraprasad Das, Takeshi Iwata
Summary: This article extensively reviews the literature on the ARMS2/HTRA1 risk alleles and their functional significance in age-related macular degeneration (AMD). The study explores the molecular mechanisms of the ARMS2 and HTRA1 susceptibility loci and their role in AMD pathophysiology, providing new testable paradigms for treatment.
PROGRESS IN RETINAL AND EYE RESEARCH
(2023)
Article
Ophthalmology
Elzbieta Krytkowska, Zofia Ulanczyk, Aleksandra Grabowicz, Katarzyna Mozolewska-Piotrowska, Krzysztof Safranow, Andrzej Palucha, Mariusz Krawczyk, Piotr Sikora, Ewa Matczynska, Andreas Stahl, Boguslaw Machalinski, Anna Machalinska
Summary: The study found that retinal microcirculation is associated with the genetic background, choroidal parameters, and clinical features of patients with AMD. In patients with AMD, dynamic arterial analysis was positively correlated with choroidal thickness and volume, which was not observed in the control group. The TT homozygotes for the ARMS2 A69S polymorphism had significantly lower DAA compared to GG homozygotes and patients with GG + GT genotypes, while patients with TC + CC genotypes in the CFH Y402H polymorphism had less prominent DAV compared to TT homozygotes.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2021)
Article
Genetics & Heredity
Chris M. Pappas, Moussa A. Zouache, Stacie Matthews, Caitlin D. Faust, Jill L. Hageman, Brandi L. Williams, Burt T. Richards, Gregory S. Hageman
Summary: Our study demonstrates that genetic protection against AMD in the CFH-CFHR5 locus is described by specific combinations of genetic variants, indicating the importance of considering these protective haplotypes when assessing genetic susceptibility for AMD. We find that genetic combinations of CFH-CFHR5 haplotypes strongly influence the susceptibility to AMD, with risk/protective diplotypes providing substantial protection against the development of the disease. Additionally, we show that the AMD risk in the ARMS2/HTRA1 locus can be mitigated by combinations of protective CFH-CFHR5 haplotypes, suggesting potential effectiveness of complement-directed therapies targeting these risk variants.
Article
Medicine, General & Internal
Rebecca Zeng, Itika Garg, John B. Miller
Summary: The case presents a patient with dry AMD who experienced almost complete disappearance of drusen and preserved retinal layers through strict daily use of dietary supplements, highlighting the potential of exploring alternative medicine supplements in the treatment of AMD.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Oyuna S. Kozhevnikova, Anzhella Zh Fursova, Anna S. Derbeneva, Ida F. Nikulich, Mikhail S. Tarasov, Vasiliy A. Devyatkin, Yulia Rumyantseva, Darya Telegina, Nataliya G. Kolosova
Summary: The study evaluated the association between polymorphisms in genes related to the complement system and neovascular age-related macular degeneration (nAMD) and its treatment response biomarkers. The results showed that certain gene polymorphisms were associated with the risk of nAMD and treatment response.
Article
Ophthalmology
Adam May, Fei Su, Brian Dinh, Rachael Ehlen, Christina Tran, Harini Adivikolanu, Peter X. Shaw
Summary: AMD, the leading cause of central vision loss in elderly populations in industrialized countries, is consistently associated with the CFH and ARMS2-HTRA1 loci. While the CFH risk variant alters complement activity, the specific role of the ARMS2-HTRA1 risk haplotype remains unclear. Current research supports HTRA1 as the causative gene for AMD risk, proposing a hypothesis where HTRA1-derived ECM fragments mediate AMD pathogenesis.
EXPERIMENTAL EYE RESEARCH
(2021)
Article
Ophthalmology
Charles C. Wykoff, Philip J. Rosenfeld, Nadia K. Waheed, Rishi P. Singh, Nick Ronca, Jason S. Slakter, Giovanni Staurenghi, Jordi Mones, Caroline R. Baumal, Namrata Saroj, Ravi Metlapally, Ramiro Ribeiro
Summary: The study evaluated clinical characteristics of eyes with new-onset exudative age-related macular degeneration (eAMD) during the FILLY trial. Researchers found that the development of eAMD was associated with baseline eAMD in the contralateral eye and the presence of double-layer sign (DLS) in the study eye. The use of intravitreal pegcetacoplan slowed the rate of GA growth but also led to an increased incidence of eAMD, which did not impact visual acuity and responded well to anti-VEGF therapy.
Article
Ophthalmology
Eric F. Thee, Johanna M. Colijn, Audrey Cougnard-Gregoire, Magda A. Meester-Smoor, Timo Verzijden, Carel B. Hoyng, Sascha Fauser, Hans-Werner Hense, Rufino Silva, Catherine Creuzot-Garcher, Marius Ueffing, Cecile Delcourt, Anneke den Hollander, Caroline C. W. Klaver
Summary: This study investigated the role of risk haplotypes in the ARMS2 and HTRA1 genes in the development of AMD, finding that patients carrying risk alleles have a higher risk of late AMD, especially for CNV. The results suggest that these risk variants may act as strong catalysts for the progression of AMD in the presence of early signs.
Article
Ophthalmology
Jeremy Liu, Mengxi Shen, Rita Laiginhas, Gissel Herrera, Jianqing Li, Yingying Shi, Farhan Hiya, Omer Trivizki, Nadia K. Waheed, Carol Y. Chung, Eric M. Moult, James G. Fujimoto, Giovanni Gregori, Philip J. Rosenfeld
Summary: This study investigated the appearance and growth of persistent choroidal hypertransmission defects (hyperTDs) in eyes with intermediate age-related macular degeneration (iAMD) using en face swept-source optical coherence tomography (SS-OCT). The results suggests that hyperTDs can serve as novel clinical trial endpoints for the study of therapies that may slow disease progression from iAMD to late AMD. The research proposed a clinical trial design using the onset and enlargement of hyperTDs for the study of disease progression in eyes with iAMD.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Ophthalmology
Derrick Wang, Swetha B. Velaga, Christelle Grondin, Adrian Au, Muneeswar Nittala, Jay Chhablani, Kiran K. Vupparaboina, Frederic Gunnemann, JooYeon Jung, JA-HONG KIM, Michael Ip, SriniVas Sadda, David Sarraf
Summary: This study revealed a prevalence of 16% for PPS maculopathy, with affected patients showing longer PPS therapy duration and higher cumulative dosage. Multimodal retinal imaging aids in observing characteristic findings of the disease, while choroidal abnormalities may serve as surrogate markers for macular toxicity.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2021)
Article
Ophthalmology
Huixun Jia, Tong LI, Junran Sun, Yuanyuan Gong, Haiyun Liu, Hong Wang, Jieqiong Chen, Wenjia Liu, Shujie Lu, Liqi Feng, Qiuchen Wan, Lei Qian, Fenghua Wang, Xiaoling Liu, Xiaodong Sun
Summary: This study aimed to evaluate the safety, tolerability, and efficacy of efdamrofusp alfa in patients with neovascular age-related macular degeneration (nAMD). The study design was prospective randomized, open-label, multiple ascending-dose, phase 1b. The results showed that intravitreal efdamrofusp alfa dosed up to 4 mg every 4 weeks was well tolerated in nAMD patients with similar vision acuity and anatomic improvements.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Ophthalmology
Riccardo Sacconi, Marco Battista, Enrico Borrelli, Carlotta Senni, Beatrice Tombolini, Domenico Grosso, Lea Querques, Francesco Bandello, Giuseppe Querques
Summary: The study revealed a close correlation between choroidal vascularity index and the rate of geographic atrophy (GA) enlargement. Choroidal vascularity index could be considered a predictor of GA progression and a potential biomarker for evaluating the efficacy of new interventions for GA.
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
(2022)
Article
Multidisciplinary Sciences
Keiichiro Tanaka, Yasuharu Oguchi, Tomoko Omori, Yumi Ishida, Hiroaki Shintake, Ryutaro Tomita, Akihito Kasai, Masashi Ogasawara, Yukinori Sugano, Kanako Itagaki, Akira Ojima, Takeshi Machida, Hideharu Sekine, Tetsuju Sekiryu
Summary: This study found that anti-vascular endothelial growth factor (VEGF) therapy can lead to changes in the complement system in eyes with age-related choroidal neovascularization (CNV), including significant increases in C3a and C4a levels. However, these changes did not impact visual outcomes in the eyes with CNV.
SCIENTIFIC REPORTS
(2021)
Article
Ophthalmology
Tomasz P. Stryjewski, Nathan L. Scott, Miriam B. Barshak, Ellis H. Tobin, Joshua O. Mali, Lucy H. Young, C. Stephen Foster, Ivana K. Kim, Marlene L. Durand
OCULAR IMMUNOLOGY AND INFLAMMATION
(2018)
Article
Ophthalmology
Ines Lains, Dong Ho Park, Ryo Mukai, Rebecca Silverman, Patrick Oellers, Steven Mach, Ivana K. Kim, Demetrios G. Vavvas, Joan W. Miller, John B. Miller, Deeba Husain
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2018)
Article
Ophthalmology
Cindy Ung, Ines Lains, Rebecca F. Silverman, Russell Woods, Anne Marie Lane, Thanos D. Papakostas, Deeba Husain, Joan W. Miller, Evangelos S. Gragoudas, Ivana K. Kim, John B. Miller
BRITISH JOURNAL OF OPHTHALMOLOGY
(2019)
Letter
Ophthalmology
Ines Lains, Rachel S. Kelly, John B. Miller, Demetrios G. Vavvas, Ivana K. Kim, Jessica Lasky-Su, Joan W. Miller, Deeba Husain
Article
Ophthalmology
Ines Lains, Rachel S. Kelly, John B. Miller, Rufino Silva, Demetrios G. Vavvas, Ivana K. Kim, Joaquim N. Murta, Jessica Lasky-Su, Joan W. Miller, Deeba Husain
Article
Ophthalmology
Ines Lains, John B. Miller, Ryo Mukai, Steven Mach, Demetrios Vavvas, Ivana K. Kim, Joan W. Miller, Deeba Husain
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
(2018)
Article
Ophthalmology
Ines Lains, Katherine E. Talcott, Ana R. Santos, Joao H. Marques, Pedro Gil, Joao Gil, Joao Figueira, Deeba Husain, Ivana K. Kim, Joan W. Miller, Rufino Silva, John B. Miller
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
(2018)
Article
Ophthalmology
Anne Marie Lane, Ivana K. Kim, Evangelos S. Gragoudas
JAMA OPHTHALMOLOGY
(2018)
Article
Multidisciplinary Sciences
Ines Lains, Daniela Duarte, Antonio S. Barros, Ana Sofia Martins, Joao Gil, John B. Miller, Marco Marques, Tania Mesquita, Ivana K. Kim, Maria da Luz Cachulo, Demetrios Vavvas, Isabel M. Carreira, Joaquim N. Murta, Rufino Silva, Joan W. Miller, Deeba Husain, Ana M. Gil
Article
Ophthalmology
Miin Roh, Ines Lains, Hyun Joon Shin, Dong Ho Park, Steven Mach, Demetrios G. Vavvas, Ivana K. Kim, Joan W. Miller, Deeba Husain, John B. Miller
BRITISH JOURNAL OF OPHTHALMOLOGY
(2019)
Article
Biochemical Research Methods
Ines Lains, Daniela Duarte, Antonio S. Barros, Ana Sofia Martins, Tatiana J. Carneiro, Joao Q. Gil, John B. Miller, Marco Marques, Tania S. Mesquita, Patricia Barreto, Ivana K. Kim, Maria da Luz Cachulo, Demetrios G. Vavvas, Isabel M. Carreira, Joaquim Neto Murta, Rufino Silva, Joan W. Miller, Deeba Husain, Ana M. Gil
JOURNAL OF PROTEOME RESEARCH
(2019)
Article
Ophthalmology
Thanos D. Papakostas, Margaux A. Morrison, Anne Marie Lane, Caroline Awh, Margaret M. DeAngelis, Evangelos S. Gragoudas, Ivana K. Kim
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2018)
Article
Ophthalmology
Jay C. Wang, Ines Lains, Joana Providencia, Grayson W. Armstrong, Ana R. Santos, Pedro Gil, Joao Gil, Katherine E. Talcott, Joao H. Marques, Joao Figueira, Demetrios G. Vavvas, Ivana K. Kim, Joan W. Miller, Deeba Husain, Rufino Silva, John B. Miller
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2017)
Article
Ophthalmology
Ines Lains, Jay Wang, Joana Providencia, Steven Mach, Pedro Gil, Joao Gil, Marco Marques, Grayson Armstrong, Shady Garas, Patricia Barreto, Ivana K. Kim, Demetrios G. Vavvas, Joan W. Miller, Deeba Husain, Rufino Silva, John B. Miller
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2017)
Article
Ophthalmology
Patrick Oellers, Ines Lains, Steven Mach, Shady Garas, Ivana K. Kim, Demetrios G. Vavvas, Joan W. Miller, Deeba Husain, John B. Miller
CLINICAL OPHTHALMOLOGY
(2017)
