Article
Ophthalmology
Jennifer Drechsler, Adrianna Lee, Snehaa Maripudi, Laura Kueny, Moran R. Levin, Osamah J. Saeedi, Marlet Bazemore, Bethany Karwoski, Richard Birdsong, Camilo Martinez, Mohamad S. Jaafar, Sairah Yousaf, Zubair M. Ahmed, William P. Madigan, Janet Leath Alexander
Summary: Using quantitative high-frequency ultrasound biomicroscopy (UBM) analysis, this study identified multiple measurable corneal structural differences between congenital glaucoma and control eyes, as well as between primary and secondary congenital glaucoma. These differences include corneal width and thickness. Further research is needed to determine whether these corneal features could be used for diagnosing or monitoring the progression of congenital glaucoma.
EYE & CONTACT LENS-SCIENCE AND CLINICAL PRACTICE
(2022)
Article
Biochemistry & Molecular Biology
Abdullah Y. Hassan, Sairah Yousaf, Moran R. Levin, Osamah J. Saeedi, Saima Riazuddin, Janet L. Alexander, Zubair M. Ahmed
Summary: This study reports a case of recessively inherited congenital cataracts in an African American family and identifies a novel homozygous variant in the GJA3 gene. This finding sheds light on the genetic mechanism of congenital cataracts.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Ophthalmology
Sooyeon Choe, Ahnul Ha, Seulggie Choi, Sung Uk Baek, Jin-Soo Kim, Jin Wook Jeoung, Ki Ho Park, Young Kook Kim
Summary: The purpose of this study was to determine the incidence of infantile cataract (IC) surgery and the risk of secondary glaucoma in the Korean population. A retrospective cohort study was conducted using the Korean National Health Claims database. The study found that the annual incidence of IC surgery ranged from 5.10 to 9.29 cases per 100,000 individuals, and the incidence rate of post-IC surgery glaucoma was 2.29 per 100 person-years. Factors such as intraocular lens implantation were found to reduce the risk of post-IC surgery glaucoma.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2023)
Review
Ophthalmology
Murugesan Vanathi, Nimmy Raj, Rakhi Kusumesh, Neelima Aron, Noopur Gupta, Radhika Tandon
Summary: Managing pediatric corneal disorders is challenging, but advancements in genetics and research provide a better understanding. Although surgical techniques are improving, there are still many concerns with corneal transplantation in infants and children.
SURVEY OF OPHTHALMOLOGY
(2022)
Article
Ophthalmology
Xiaoyan Han, Qi Fan, Zhixiang Hua, Xiaodi Qiu, Dongjin Qian, Jin Yang
Summary: The study found that most CC/ developmental cataract patients typically have moderate to high astigmatism before cataract surgery, with anterior corneal astigmatism accounting for the largest proportion in patients with zonular cataracts. Moreover, anterior corneal measurements may overestimate WTR astigmatism, underestimate ATR astigmatism, and underestimate oblique astigmatism.
Article
Multidisciplinary Sciences
Yasmine M. El Sayed, Abdelrahman M. Elhusseiny, Ghada I. Gawdat, Amanne F. Esmael, Hala M. Elhilali
Summary: This study aimed to determine the prevalence and clinical characteristics of childhood glaucoma among patients in an Egyptian children's hospital. The results showed that primary congenital glaucoma was the most common type of glaucoma in Egypt, and a significant proportion of patients had a history of parental consanguinity.
Article
Medicine, General & Internal
Manali Shah, Rachida Bouhenni, Imaan Benmerzouga
Summary: Reviewed the presentation of CYP1B1 gene mutations among different populations, highlighting the importance of early detection in preventing blindness caused by primary congenital glaucoma (PCG). The recent findings provide insights into the pathophysiology of PCG.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Ophthalmology
Yuri Belitsky, Gunilla Magnusson, Alf Nystrom, Madeleine Zetterberg, Lada Kalaboukhova
Summary: The aim of this study was to evaluate the prevalence of late-onset glaucoma and visual development in children undergoing surgery for congenital cataract. The results showed a late-onset glaucoma prevalence of 10.7%, with microphthalmos being a significant risk factor for glaucoma development. Lifelong follow-up and regular check-ups are recommended for these patients.
ACTA OPHTHALMOLOGICA
(2023)
Article
Ophthalmology
Aliya Kabylbekova, Serik Meirmanov, Altyn Aringazina, Lukpan Orazbekov, Ardak Auyezova
Summary: This retrospective study aimed to analyze the clinical characteristics of congenital and developmental cataract in children. The study included 942 children over a 10-year period. The majority of patients underwent surgery after the age of 3, and white pupils were a common presenting complaint. Total cataract was the most common morphologic type, and there was a higher proportion of boys in bilateral cases. Family history, ocular dysmorphology, and coexisting systemic disease were also recorded.
INDIAN JOURNAL OF OPHTHALMOLOGY
(2022)
Review
Medicine, General & Internal
Clarissa E. H. Fang, Peng Tee Khaw, Rashmi G. Mathew, Christin Henein
Summary: The study aims to assess and compare corneal endothelial cell density (ECD) loss in patients following glaucoma surgery and cataract surgery. Inclusion criteria involve adult patients with various types of glaucoma who have undergone specific types of surgeries, while excluding those with pre-existing corneal disease. The study will search electronic databases for relevant literature, extract data, and analyze outcomes to be published and disseminated in ophthalmic networks.
Article
Ophthalmology
Mathias Moller Hansen, Daniella Bach-Holm, Line Kessel
Summary: After childhood cataract surgery, operated eyes have higher order aberrations, which may contribute to poor visual outcomes for the children. Younger age at surgery is associated with more higher order aberrations.
CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
(2022)
Article
Genetics & Heredity
Jana Jedlickova, Marie Vajter, Tomas Barta, Graeme C. M. Black, Rahat Perveen, Jan Mares, Marek Fichtl, Bohdan Kousal, Lubica Dudakova, Petra Liskova
Summary: Four members of a three-generation Czech family were found to carry the n.37C>T variant in MIR204, leading to early-onset chorioretinal dystrophy. This study confirmed the existence of a distinct clinical entity caused by this genetic mutation. Chorioretinal dystrophy was found to be associated with iris coloboma, congenital glaucoma, and premature cataracts, expanding the phenotypic range. In silico analysis of the variant revealed 713 new targets. Additionally, albinism caused by biallelic pathogenic OCA2 variants was observed in four family members. Haplotype analysis ruled out relatedness with the original family reported to have the n.37C>T variant in MIR204. The identification of a second independent family further confirms the existence of a distinct MIR204-associated clinical entity and suggests a potential involvement of congenital glaucoma in the phenotype.
Article
Ophthalmology
Deepika Parameshwarappa, Satabdi Nanda, N. Kavya, Roopashri Matada, Gowri Murthy, Praveen Murthy
Summary: This article describes a modified surgical technique for cataract surgery in eyes with varying degrees of corneal opacity using chandelier illumination through the pars plana.
INDIAN JOURNAL OF OPHTHALMOLOGY
(2022)
Article
Ophthalmology
Peter J. Ness, Colette M. Jackson, Thomas L. Offerle, Thomas M. Briggs, Rupal H. Trivedi, Bethany Wolf, M. Edward Wilson
Summary: The study aimed to compare intraocular pressure (IOP) control before and after secondary intraocular lens (IOL) implantation in children, finding that eyes with a history of traumatic cataract surgery and very young age at initial cataract surgery may have an increased risk of failure in postoperative IOP control.
Article
Medicine, General & Internal
Nafees B. Baig, Joyce J. Chan, Jonathan C. Ho, Geoffrey C. Tang, Susanna Tsang, Kelvin H. Wan, Wilson W. Yip, Clement C. Y. Tham
Summary: This retrospective study in Hong Kong documented the epidemiology, presentation, clinical interventions, and outcomes of paediatric glaucoma. It found that primary congenital glaucoma was the most prevalent, with primary glaucoma eyes often requiring surgical treatment. Parental concerns were identified as important clinical presentations for paediatric glaucoma.
HONG KONG MEDICAL JOURNAL
(2021)
Article
Ophthalmology
Henry Marshall, Ella C. Berry, Santiago Diaz Torres, Sean Mullany, Joshua Schmidt, Daniel Thomson, Thi Thi Nguyen, Lachlan S. W. Knight, Georgina Hollitt, Ayub Qassim, Antonia Kolovos, Bronwyn Ridge, Angela Schulz, Stewart Lake, Richard A. Mills, Ashish Agar, Anna Galanopoulos, John Landers, Paul R. Healey, Stuart L. Graham, Alex W. Hewitt, Robert J. Casson, Stuart Macgregor, Owen M. Siggs, Jamie E. Craig
Summary: The study evaluated the relationship between body mass index (BMI) and glaucoma progression through multiple cohort observational methods. Results showed a consistent correlation between lower BMI and faster glaucoma progression, worse VCDR, and increased likelihood of glaucoma diagnosis. Additionally, a lower BMI was associated with greater VCDR change and higher intraocular pressure.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Ophthalmology
Samar Yahya, Claire E. L. Smith, James A. Poulter, Martin McKibbin, Gavin Arno, Jamie Ellingford, Kati Kampjarvi, Muhammad Khan, Frans P. M. Cremers, Alison J. Hardcastle, Bruce Castle, David H. W. Steel, Andrew R. Webster, Graeme C. Black, Mohammed E. El-Asrag, Manir Ali, Carmel Toomes, Chris F. Inglehearn
Summary: The purpose of this study was to characterize the phenotype observed in a case series with macular disease and determine the cause. Through ophthalmic examination and genetic sequencing, it was found that all patients carried the same gene deletion that caused late-onset macular disease.
Editorial Material
Ophthalmology
James Pietris, Stephen Bacchi, Sebastian Wiech, Yiran Tan, Joshua Kovoor, Aashray Gupta, Robert Casson, Weng Chan
Article
Ophthalmology
Owen M. M. Siggs, Ayub Qassim, Xikun Han, Henry N. N. Marshall, Sean Mullany, Weixiong He, Emmanuelle Souzeau, Anna Galanopoulos, Ashish Agar, John Landers, Robert J. J. Casson, Alex W. W. Hewitt, Paul R. R. Healey, Stuart L. L. Graham, Stuart MacGregor, Jamie E. E. Craig
Summary: In this study, a high polygenic risk was associated with more rapid structural and functional progression in early POAG, despite more intensive treatment. A polygenic risk score may serve as a valuable adjunct to identify individuals who stand to benefit the most from more frequent surveillance and earlier or more intensive treatment.
JAMA OPHTHALMOLOGY
(2023)
Article
Biology
Anthony M. Musolf, Annechien E. G. Haarman, Robert N. Luben, Jue-Sheng Ong, Karina Patasova, Rolando Hernandez Trapero, Joseph Marsh, Ishika Jain, Riya Jain, Paul Zhiping Wang, Deyana D. Lewis, Milly S. Tedja, Adriana I. Iglesias, Hengtong Li, Cameron S. Cowan, Ginevra Biino, Alison P. Klein, Priya Duggal, David A. Mackey, Caroline Hayward, Toomas Haller, Andres Metspalu, Juho Wedenoja, Olavi Parssinen, Ching-Yu Cheng, Seang-Mei Saw, Dwight Stambolian, Pirro G. Hysi, Anthony P. Khawaja, Veronique Vitart, Christopher J. Hammond, Cornelia M. van Duijn, Virginie J. M. Verhoeven, Caroline C. W. Klaver, Joan E. Bailey-Wilson
Summary: Refractive error is a complex eye condition caused by genetic and environmental factors. Genome-wide association studies have identified common genetic risk factors, but a significant portion of the heritability is still unexplained. By conducting gene-based association tests, we identified 129 unique genes associated with refractive error in a large dataset. Some of the novel candidates, such as PDCD6IP, PER3, and P4HTM, show promise for future functional studies and validation.
COMMUNICATIONS BIOLOGY
(2023)
Review
Ophthalmology
Johanna L. Jones, Kathryn P. Burdon
Summary: Variants in the GJA3 and GJA8 genes are common causes of inherited pediatric cataract, accounting for up to 18% of cases. However, many of these variants lack sufficient evidence of pathogenicity, highlighting the need for standardized functional data to evaluate their specific effects on protein function.
EXPERT REVIEW OF OPHTHALMOLOGY
(2023)
Article
Multidisciplinary Sciences
Ida Signe Bohse Larsen, Lorenzo Povolo, Luping Zhou, Weihua Tian, Kasper Johansen Mygind, John Hintze, Chen Jiang, Verity Hartill, Katrina Prescott, Colin A. Johnson, Sureni V. Mullegama, Allyn McConkie-Rosell, Marie McDonald, Lars Hansen, Sergey Y. Vakhrushev, Katrine T. Schjoldager, Henrik Clausen, Thomas Worzfeld, Hiren J. Joshi, Adnan Halim
Summary: Mutations in the TMEM260 gene cause heart defects and renal anomalies syndrome. The TMEM260 gene encodes an ER-located protein O-mannosyltransferase that selectively glycosylates IPT domains. Disease-causing TMEM260 mutations impair O-mannosylation of IPT domains and result in receptor matura-tion defects and abnormal growth of 3D cell models.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Ophthalmology
Rajya L. Gurung, Liesel M. FitzGerald, Ebony Liu, Bennet J. McComish, Georgia Kaidonis, Bronwyn Ridge, Alex W. Hewitt, Brendan J. Vote, Nitin Verma, Jamie E. Craig, Kathryn P. Burdon
Summary: This study aimed to identify factors influencing the outcomes of intravitreal anti-vascular endothelial growth factor (anti-VEGF) treatment for diabetic macular edema (DME) in real-world practice. The study found that higher baseline best corrected visual acuity (BCVA) and longer duration of diabetic retinopathy were negative predictors for BCVA response, while Aflibercept treatment and a positive early functional response were positive predictors. Higher baseline central macular thickness (CMT) and early anatomical response were predictors for greater reduction in CMT. Overall, the variables could only predict 23% of BCVA response and 52% of CMT response.
INTERNATIONAL JOURNAL OF RETINA AND VITREOUS
(2023)
Article
Ophthalmology
Danit G. Saks, Angela Schulz, Ayub Qassim, Henry Marshall, Alex W. Hewitt, Stuart Macgregor, Jamie E. Craig, Stuart L. Graham
Summary: Individuals with a higher genetic risk of glaucoma are more likely to have retinal vascular defects and structural glaucomatous loss, but this is not related to systemic cardiovascular risk.
ACTA OPHTHALMOLOGICA
(2023)
Article
Materials Science, Biomaterials
Fatmah I. Ghuloum, Lee A. Stevens, Colin A. Johnson, Natalia A. Riobo-Del Galdo, Mahetab H. Amer
Summary: This study proposes a mechanism linking the activation of Hedgehog signalling to the osteoinductive effect of surface-engineered, topographically-textured polymeric microparticles. The researchers found that the topographical microenvironment plays a role in modulating Hedgehog signalling and inducing osteogenesis in mesenchymal stem cells. This study highlights the potential for tailoring substrate topographical design to offer cell-instructive 3D microenvironments.
BIOMATERIALS ADVANCES
(2023)
Article
Ophthalmology
Sean Mullany, Santiago Diaz-Torres, Joshua M. Schmidt, Daniel Thomson, Ayub Qassim, Henry N. Marshall, Lachlan S. W. Knight, Ella C. Berry, Antonia Kolovos, David Dimasi, Stewart Lake, Richard A. Mills, John Landers, Paul Mitchell, Paul R. Healey, Toby Commerford, Sonja Klebe, Emmanuelle Souzeau, Mark M. Hassall, Stuart MacGregor, Puya Gharahkhani, Owen M. Siggs, Jamie E. Craig
Summary: The potential association between APOE E4 allele and glaucoma prevalence was investigated, but the results were not replicated in other cohorts.
OPHTHALMOLOGY SCIENCE
(2023)
Article
Ophthalmology
Ella C. Berry, Henry N. Marshall, Sean Mullany, Santiago Diaz Torres, Joshua Schmidt, Daniel Thomson, Lachlan S. W. Knight, Georgina L. Hollitt, Ayub Qassim, Bronwyn Ridge, Angela Schulz, Mark M. Hassall, Thi Thi Nguyen, Stewart Lake, Richard A. Mills, Ashish Agar, Anna Galanopoulos, John Landers, Paul R. Healey, Stuart L. Graham, Alex W. Hewitt, Stuart MacGregor, Robert J. Casson, Owen M. Siggs, Jamie E. Craig
Summary: The study assessed the association between physical activity and the rates of macular thinning in individuals with primary open-angle glaucoma. The results indicated that greater physical activity was associated with slower rates of macular thinning and thicker total macular thickness.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2023)
Letter
Ophthalmology
Chris F. Inglehearn, Samar Yahya, Claire E. L. Smith, James A. Poulter, Manir Ali, Carmel Toomes, Jamie Ellingford, Graeme C. Black, Gavin Arno, Andrew R. Webster
Article
Genetics & Heredity
Ummey Hany, Christopher M. Watson, Lu Liu, Claire E. L. Smith, Asmaa Harfoush, James A. Poulter, Georgios Nikolopoulos, Richard Balmer, Catriona J. Brown, Anesha Patel, Jenny Simmonds, Ruth Charlton, Maria Gabriela Acosta de Camargo, Helen D. Rodd, Hussain Jafri, Agne Antanaviciute, Michelle Moffat, Maisoon Al-Jawad, Chris F. Inglehearn, Alan J. Mighell
Summary: This study found that COL17A1 variants are a common cause of dominantly inherited non-syndromic AI, and may also lead to JEB and ERED. It is recommended to consider potential JEB carriers and provide appropriate care for patients with AI or ERED caused by COL17A1 variants.
JOURNAL OF MEDICAL GENETICS
(2023)