1,316 results match your criteria: "Glaucoma Primary Congenital"
Clinical characteristics and ultrasound biomicroscopic evaluation of anterior segment dysgenesis: a retrospective cross-sectional study.
Quant Imaging Med Surg
December 2024
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.
Background: Anterior segment dysgenesis (ASD) encompasses a range of congenital disorders affecting the development of the eye's anterior segment, often leading to significant visual impairment and glaucoma. Although numerous studies have focused on the genetic basis of ASD, few have comprehensively compared the clinical features across ASD subtypes. This study aims to address this gap by describing and comparing the clinical characteristics and ultrasound biomicroscopy (UBM) imaging features of various ASD subtypes in a Chinese tertiary medical center.
View Article and Find Full Text PDFPotential Involvements of Anterior Segment Dysgenesis-Associated Genes in Primary Congenital Glaucoma.
Semin Ophthalmol
December 2024
Kallam Anji Reddy Molecular Genetics Laboratory, Prof. Brien Holden Eye Research Center, L V Prasad Eye Institute, Hyderabad, Telangana, India.
Background: The anterior segment of the eye plays a crucial role in maintaining the normal intraocular pressure and vision. Developmental defects in the anterior segment structures lead to anterior segment dysgenesis (ASD) and primary congenital glaucoma (PCG), which share overlapping clinical features. Several genes have been mapped and characterized in ASD, some of which are also involved in other glaucoma phenotypes.
View Article and Find Full Text PDFAhmed Glaucoma Valve Implantation in Jordan: Indications and Complications.
Clin Ophthalmol
December 2024
Division of Ophthalmology, Department of Special Surgery, Jordan University of Science and Technology, Irbid, 22110, Jordan.
Aim: The main indications for Ahmed glaucoma valve (AGV) include neovascular glaucoma, congenital glaucoma, primary open angle glaucoma and patients with failed previous trabeculectomy. This article aims to investigate the complications of AGV in Jordanian glaucoma patients and to justify the main risk factors.
Methods: Retrospectively, we report 87 eyes of 83 patients who underwent AGV implantation for different indications.
Treatment Patterns of Childhood Glaucoma in the United States: Analysis of IRIS Registry (Intelligent Research in Sight).
Am J Ophthalmol
November 2024
From the Department of Ophthalmology (A.F., D.M.V., K.A., I.Y.C., D.S.F., A.L., A.C.L., J.W.M., P.P., K.S., T.E., N.Z., J.W.M., A.L.), Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA. Electronic address:
Article Synopsis
- The study aimed to analyze treatment patterns for childhood glaucoma in the U.S. by examining patient records from 2013 to 2020.
- It included 3069 patients, revealing that only 16.1% underwent surgery while 93.6% were treated with medications, with specific procedures varying based on the type of glaucoma.
- Key factors influencing the need for surgeries included having primary congenital glaucoma, higher intraocular pressure, and being younger than one year at diagnosis.
Risk of long-term ophthalmological complications in Taiwanese preterm infants: a nationwide cohort study.
BMJ Paediatr Open
November 2024
Graduate Institute of Chinese Medicine, School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan
Objectives: The aim was to determine whether different maturity levels and birth weights could change the risk of long-term ophthalmological complications in preterm infants.
Design: This was a cohort study.
Setting: This was a nationwide population-based study.
Outcomes of Circumferential Versus Hemi-gonioscopy-Assisted Transluminal Trabeculotomy for Congenital Glaucoma.
Am J Ophthalmol
November 2024
From the Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences (S.G., A.P., R.A., A.K., A.K.P., V.G.), New Delhi, India.
Purpose: To compare the efficacy of circumferential gonioscopy-assisted transluminal trabeculotomy (GATT) vs hemi-GATT in primary congenital glaucoma (PCG).
Design: Prospective randomized controlled trial.
Methods: This study included children with PCG having corneal diameters <14 mm and relatively clear cornea.
Clinical profile and etiological spectrum of patients presenting with corneal hydrops over a 12-year period.
Int Ophthalmol
November 2024
Faculty, Cornea and Anterior Segment Services, Shantilal Shanghvi Cornea Institute, L V Prasad Eye Institute, Hyderabad, Telangana, 500034, India.
Purpose: To describe the demographics, clinical characteristics, and management of corneal hydrops in patients presenting to a multi-tier ophthalmology hospital network in India.
Design: Cross-sectional hospital-based study.
Methods: Of the total of 3,140,941 new patients presenting between October 2010 and March 2022, patients with a clinical diagnosis of corneal hydrops in at least one eye were included in the study.
Novel postzygotic mutation in a patient with Parkes Weber syndrome: A case report and literature review.
Clin Case Rep
November 2024
Department of Human Genetics University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald Greifswald Germany.
Key Clinical Message: Not only germline but also postzygotic mutations in the or genes can lead to capillary malformation-arteriovenous malformation (CM-AVM) syndrome. As it is not always possible to clinically distinguish between constitutional variants and postzygotic mosaicism, a sufficiently high sequencing depth must be used in genetic diagnostics to detect both.
Abstract: Capillary malformation-arteriovenous malformation (CM-AVM) syndrome, with or without Parkes Weber syndrome, is a rare autosomal dominant disease caused by pathogenic or variants.
The Secondary Childhood Glaucomas.
Surv Ophthalmol
October 2024
Glaucoma Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. Electronic address:
Article Synopsis
Effect of Haab's striae on corneal parameters in primary congenital glaucoma.
Indian J Ophthalmol
November 2024
VST Centre of Glaucoma Care, LVPEI, KAR Campus, Hyderabad, Telangana, India.
Trabecular Meshwork Abnormalities in a Model of Congenital Glaucoma Due to LTBP2 Mutation.
Invest Ophthalmol Vis Sci
October 2024
Department of Surgical Sciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, Wisconsin, United States.
Purpose: To characterize early trabecular meshwork (TM) morphologic abnormalities in a feline model of human primary congenital glaucoma (PCG) caused by mutation in LTBP2.
Methods: Eyes from 41 cats, including 19 normal and 22 homozygous for LTBP2 mutation, across various postnatal stages (birth, 2 weeks, 5 weeks, and 12 weeks) were paraformaldehyde fixed, anterior segments dissected, post-fixed in glutaraldehyde, osmicated, and processed and sectioned for transmission electron microscopy. Cell morphology, nuclear shape, and intertrabecular space (ITS) were quantitatively assessed, and the structure of the fibrillar extracellular matrix in the TM was systematically evaluated.
Comparison between modified and conventional combined Trabeculotomy-Trabeculectomy with Mitomycin-C for intraocular pressure reduction in primary congenital glaucoma.
Pak J Med Sci
October 2024
Asad Aslam Khan. MBBS, MS Department of Ophthalmology, COAVS/KEMU, Lahore, Pakistan.
Article Synopsis
- The study aimed to compare the effectiveness of modified combined trabeculotomy-trabeculectomy (CTT) with mitomycin-C (MMC) versus conventional CTT with MMC in reducing intraocular pressure (IOP) in patients with primary congenital glaucoma (PCG).
- Conducted at The Institute of Ophthalmology, Lahore, from January 2018 to June 2019, the study included 70 patients aged 0 to 10 years, split into two groups for different surgical procedures.
- Results showed that while both procedures reduced IOP, conventional CTT with MMC was more effective, achieving a success rate of 71.4% compared to 40% for modified CTT.
The Robison D. Harley, MD Childhood Glaucoma Research Network International Pediatric Glaucoma Registry: The First 872 Cases.
Ophthalmol Glaucoma
October 2024
Flaum Eye Institute, University of Rochester Medical Center, Rochester, New York; Golisano Children's Hospital, University of Rochester Medical Center, Rochester, New York. Electronic address:
Article Synopsis
- A study analyzed data from an international pediatric glaucoma database consisting of 872 patients, narrowing it down to 865 due to coding errors, to investigate genetic and clinical factors associated with the condition.
- The study utilized a centralized, open-access database and performed retrospective analyses on variables like demographics, family history, and disease presentation across 20 clinical sites from 10 countries.
- Findings revealed significant differences in glaucoma types and severity between countries, with the USA showing a higher prevalence of open-angle glaucoma after cataract surgery, while India and Iran had more frequent instances of primary congenital glaucoma and worse clinical measures of severity.
Potential Involvements of Cilia-Centrosomal Genes in Primary Congenital Glaucoma.
Int J Mol Sci
September 2024
Kallam Anji Reddy Molecular Genetics Laboratory, Prof. Brien Holden Eye Research Center, L.V. Prasad Eye Institute, Hyderabad 500034, Telangana, India.
Article Synopsis
- Primary congenital glaucoma (PCG) is a genetic eye condition in children caused by abnormalities in eye structures, and past research has linked certain rare genetic variants to its complexity and variability.
- A study involving deep sequencing of a core centrosomal protein in a group of PCG patients revealed rare pathogenic variants in a small percentage of cases, with some co-occurring genetic variations leading to poorer outcomes.
- The findings point to the possible roles of additional genes and cilia-centrosomal functions in the development of PCG, suggesting further areas for research in understanding this condition.
Long-term outcomes of Ahmed glaucoma drainage device capsulectomies in pediatric glaucoma patients.
J AAPOS
October 2024
Department of Ophthalmology, Children's Hospital of Michigan, Detroit, Michigan; Wayne State University School of Medicine, Detroit, Michigan.
Article Synopsis
- - The study examined long-term outcomes of Ahmed glaucoma device capsulectomy in pediatric patients over nearly 10 years, focusing on surgical success and post-operative complications.
- - A total of 22 capsulectomies were reviewed, showing a low success rate of 23% for maintaining acceptable intraocular pressure (IOP) without further procedures, alongside some short-term complications.
- - The findings suggest that while capsulectomy may not prevent the need for additional surgery in most cases, it can provide temporary relief before other treatment options.
Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the gene underlying clinical variant of α-mannosidosis.
Front Genet
August 2024
Department of Basic Medical Sciences, College of Medicine, Taibah University, Madinah, Saudi Arabia.
Background: α-mannosidosis (MAN) is a rare genetic condition that segregates in an autosomal recessive manner. Lack of lysosomal alpha-mannosidase is the underlying cause of the disease. Symptoms of the disease gradually worsen with the age.
View Article and Find Full Text PDFPreoperative Structural Risk Factors for Glaucoma After Penetrating Keratoplasty for Congenital Corneal Opacity: An Observational Study.
Ophthalmol Ther
November 2024
Department of Ophthalmology, Peking University Third Hospital, No. 49 Garden North Road, Haidian District, Beijing, 100191, People's Republic of China.
Introduction: Post-keratoplasty glaucoma (PKG) is a major complication following penetrating keratoplasty (PKP) for congenital corneal opacity (CCO). This study aims to assess the preoperative structural risk factors for PKG following PKP for CCO using ultrasound biomicroscopy (UBM).
Methods: Pediatric patients with CCO who underwent preoperative UBM and primary PKP were enrolled.
Long-term follow-up results and visual outcomes of childhood glaucoma in the black sea region of turkey.
Int Ophthalmol
August 2024
Department of Ophthalmology, Faculty of Medicine, Ondokuz Mayıs University, 55200, Atakum Samsun, Turkey.
Purpose: To investigate long-term visual outcomes and factors associated with low vision in patients with childhood glaucoma.
Materials And Methods: A retrospective review was conducted on the medical records of pediatric glaucoma patients at the Ondokuz Mayıs University Ophthalmology Clinic from 2005 to 2023. The patients were categorized into three groups: primary congenital glaucoma (PCG), secondary childhood glaucoma, and glaucoma following cataract surgery (GFCS).
Glaucoma-Protective Human Single-Nucleotide Polymorphism in the Locus Increased ANGPT2 Expression and Schlemm Canal Area in Mice-Brief Report.
Arterioscler Thromb Vasc Biol
October 2024
Feinberg Cardiovascular and Renal Research Institute (N.K., T.O., P. Leeaw, P. Liu, D.K.D., B.R.T., S.E.Q.), Northwestern University Feinberg School of Medicine, Chicago.
Article Synopsis
- - The ANGPT-TEK pathway is crucial for forming the Schlemm canal, and mutations in related genes are linked to congenital glaucoma in kids, while a specific SNP (rs76020419) offers protection against open-angle glaucoma in studies.
- - Researchers created mutant mice with the SNP using CRISPR/Cas9 and measured ANGPT2 levels and Schlemm canal size in various tissues.
- - Results showed that mutant mice had higher ANGPT2 levels and a larger Schlemm canal compared to wild-type mice, indicating a possible protective benefit against glaucoma related to this genetic variant.
Long-term Visual Acuity Outcomes of Deep Sclerectomy in Pediatric Glaucoma.
J Glaucoma
August 2024
Glaucoma Research Chair, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Article Synopsis
Background: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is a rare autosomal dominant disease caused by mutations in KIF11 which disrupt EG5 protein function, impacting the development and maintenance of retinal and lymphatic structures due to its expression in the retinal photoreceptor cilia. The primary ocular finding in MCLMR is chorioretinopathy. Additional features can include microphthalmia, angle-closure glaucoma, persistent hyperplastic primary vitreous, cataract, pseudo-coloboma, persistent hyaloid artery, and myopic or hypermetropic astigmatism.
View Article and Find Full Text PDFComparison of Bent Ab-Interno Needle Goniectomy and Goniotomy in Primary Congenital Glaucoma: A Randomized Controlled Trial.
Ophthalmol Glaucoma
August 2024
Advanced Eye Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Article Synopsis
- This study compared the effectiveness of two surgical methods - Bent Ab-Interno Needle Goniectomy (BANG) and traditional goniotomy - in treating primary congenital glaucoma (PCG) in infants aged 1 month to 1 year.
- Both surgeries were performed on the same day, with outcomes like intraocular pressure control and need for antiglaucoma medications measured over a year.
- Results showed no significant difference in IOP control or medication requirements between the two methods, but both improved corneal clarity; however, BANG required slightly more medications.
Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals.
Jpn J Ophthalmol
November 2024
Department of Integrative Genomics, Tohoku Medical Megabank Organization, 2-1 Seiryo- machi, Aoba-ku, Sendai, 980-8573, Miyagi, Japan.
Purpose: To explore the frequency and positions of genetic mutations in CYP1B1 and FOXC1 in a Japanese population.
Study Design: Molecular genetic analysis.
Methods: Genomic DNA was extracted from 31 Japanese patients with childhood glaucoma (CG) from 29 families.
Modified viscotrabeculotomy versus modified trabeculotomy in late-onset primary congenital, juvenile, and secondary open-angle glaucoma.
Eur J Ophthalmol
August 2024
Glaucoma Service, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.