1,063 results match your criteria Glaucoma Primary Congenital

Anterior chamber angle features in primary congenital glaucoma infants using hand-held anterior segment-oct.

Eye (Lond) 2021 Jun 11. Epub 2021 Jun 11.

Faculty of Medicine, Ophthalmology department, Cairo University, Cairo, Egypt.

Purpose: To describe anterior chamber angle (ACA) structures and parameters in primary congenital glaucoma (PCG) and normal infant eyes, using Hand-held anterior segment optical coherence tomography (HH AS-OCT), as an in-office, non-contact technique.

Methods: Normal and PCG-infants <24 months were examined, using HH AS-OCT (RTVue RT- 100, Optovue Inc., Fremont, CA). Read More

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Comparison of viscocanalostomy plus suture-assisted near-360-degree trabeculotomy and viscocanalostomy plus rigid probe trabeculotomy in primary congenital glaucoma.

Acta Ophthalmol 2021 Jun 11. Epub 2021 Jun 11.

Department of Ophthalmology, The Second Affiliated Hospital of Nanjing Medical University, Nanjing, China.

Purpose: To compare the efficacy and safety of viscocanalostomy plus near-360-degree suture trabeculotomy (VST) with viscocanalostomy plus rigid probe trabeculotomy (VT) in treating primary congenital glaucoma (PCG) over a one-year follow-up.

Methods: This consecutive retrospective study included patients with PCG confirmed within 3 years of age from March 2017 to October 2019. Efficacy was evaluated by comparing the postoperative intraocular pressure (IOP) curve and the success rate at one year after surgery. Read More

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Dysfunction of the limbal epithelial stem cell niche in aniridia-associated keratopathy.

Ocul Surf 2021 Jun 6;21:160-173. Epub 2021 Jun 6.

Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany.

Purpose: Abnormalities in the limbal niche microenvironment have been suggested to be causally involved in aniridia-associated keratopathy (AAK), but histological analyses on the limbal structure and composition in AAK are lacking. Here, we investigated morphologic and molecular alterations of the limbal epithelial stem cell niche in human congenital aniridia.

Methods: The blind, buphthalmic and painful left eye of a 16-year old girl with congenital aniridia and juvenile glaucoma had to be enucleated because of uncontrolled intraocular pressure. Read More

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Management of strabismus related to infantile glaucoma: Case series.

Arch Soc Esp Oftalmol (Engl Ed) 2021 Jun 6;96(6):293-298. Epub 2021 Jan 6.

Servicio de Oftalmología, Hospital Clínico San Carlos, Madrid, Spain.

Objective: To evaluate the different modalities of treatment of the strabismus related to infantile glaucoma, its complications, and results.

Methods: The clinical history of 7 patients with infantile glaucoma which required strabismus surgical treatment were analyzed. Age at onset of glaucoma, type of glaucoma, glaucoma surgeries, type of strabismus, strabismus surgical treatment and postoperative results were studied. Read More

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Profile of Glaucoma in the Eastern Region of Saudi Arabia: A Retrospective Study.

Saudi J Med Med Sci 2021 May-Aug;9(2):167-174. Epub 2021 Apr 29.

Department of Ophthalmology, Imam Abdulrahman Bin Faisal University, King Fahd Hospital of the University, Dammam, Saudi Arabia.

Background: Glaucomas remain asymptomatic until severe, indicating that the actual number of affected individuals may be higher than those diagnosed.

Objective: To study the clinical patterns of glaucoma cases in the Eastern Province of Saudi Arabia.

Patients And Methods: This retrospective study was conducted at King Fahd Hospital of the University, Al-Khobar, and Dhahran Eye Specialist Hospital, Dhahran, Saudi Arabia. Read More

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Visual outcomes and associated factors of primary congenital glaucoma in children.

Graefes Arch Clin Exp Ophthalmol 2021 Jun 2. Epub 2021 Jun 2.

Department of Ophthalmology, Seoul National University Hospital, Seoul, Republic of Korea.

Purpose: We evaluated the long-term visual outcomes in children with primary congenital glaucoma and determined the factors associated with the final visual outcomes.

Methods: Medical records of children with primary congenital glaucoma between 2005 and 2016, seen at Seoul National University Children's Hospital in South Korea, were reviewed. The minimum follow-up period after surgery for primary congenital glaucoma was 3 years. Read More

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Limbal Stem Cell Deficiency: Demographics and Clinical Characteristics of a Large Retrospective Series at a Single Tertiary Referral Center.

Cornea 2021 May 27. Epub 2021 May 27.

Virginia Eye Consultants, Norfolk, VA; Ospedale Oftalmico di Torino, Ospedale San Giovanni Bosco, Turin, Italy; Department of Ophthalmology, Cincinnati Eye Institute, University of Cincinnati, Cincinnati, OH; and Virginia Eye Center, Lansdowne, VA.

Purpose: The aim of this study was to characterize a large cohort of patients presenting to a single referral center for limbal stem cell deficiency (LSCD).

Methods: A retrospective chart review of all patients with a clinical diagnosis of LSCD from 2002 to 2015 was performed. Demographics, etiology, previous ocular surgeries, visual acuity, and treatment were assessed. Read More

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Meta-analysis of gene mutations in primary congenital glaucoma patients.

Eur J Ophthalmol 2021 May 21:11206721211016308. Epub 2021 May 21.

Faculty of Medicine and Pharmacy, Hassan II Ain Chock University, Casablanca, Morocco.

Primary congenital glaucoma (PCG) is a rare and severe form of glaucoma and is usually transmitted as an autosomal-recessive disease. However, PCG is more common in certain ethnic and geographic groups where consanguineous relationships are common. The importance of this review is to inspect the mutations in the cytochrome P450 1B1 gene (CYP1B1) and to highlight the interest of the genetic study of CYP1B1 mutations. Read More

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Mutational analysis of CYP1B1 gene in Iranian pedigrees with glaucoma reveals known and novel mutations.

Int Ophthalmol 2021 May 21. Epub 2021 May 21.

Department of Medical Genetics, School of Medicine, Semnan University of Medical Sciences, Semnan, Iran.

Purpose: Primary congenital glaucoma (PCG) (OMIM#231,300) can be caused by pathogenic sequence variations in CYP1B1, LTBP2, MYOC and PXDN genes. The purpose of this study was to investigate mutations in the CYP1B1 gene in families affected with primary congenital glaucoma (PCG) using linkage analysis and Sanger sequencing.

Methods: A total number of four families with nine affected PCG patients during six months were included in this study. Read More

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Novel heterozygous variants in cause different anterior segment dysgenesis phenotypes in monozygotic twins.

Ophthalmic Genet 2021 May 14:1-7. Epub 2021 May 14.

Department of Ophthalmology and Vision Sciences, Hospital for Sick Children, Toronto, Ontario, Canada.

Background: Since bi-allelic variants in the gene were first discovered in 2011 to be associated with anterior segment dysgenesis, a spectrum of ophthalmologic and systemic clinical manifestations has been described. This manuscript reports two distinct clinical phenotypes in monozygotic twin sisters, including the previously unreported ocular manifestation of bilateral primary aphakia, associated with novel compound heterozygous variants in the gene.

Materials And Methods: We used genome sequencing to study a non-consanguineous family with monozygotic twin sister probands: one presenting with bilateral microphthalmia, primary aphakia, total corneal opacification, congenital glaucoma, and complex systemic comorbidities; the other with anterior persistent fetal vasculature in the right eye, and Peters anomaly type 2 with cataract and iris coloboma in the left eye but no systemic issues. Read More

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Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel mutation in different clinical manifestations.

Eur J Ophthalmol 2021 May 12:11206721211016306. Epub 2021 May 12.

Department of Medical Genetics, School of Medicine, Dokuz Eylul University, Izmir, Turkey.

Purpose: Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy and severe brain and eye malformations. This study aims to analyze genotype-phenotype correlations in WWS with a novel cytidine diphosphate-l-ribitol pyrophosphorylase A () mutation in different clinical manifestations.

Case Description: We report a girl with a presentation of multiple brain and ocular anomalies. Read More

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Histologic, immunohistochemical, and scanning electron microscopic comparison of pre-iridal monocellular and fibrovascular membranes in normal and glaucomatous canine globes.

Vet Ophthalmol 2021 Apr 27. Epub 2021 Apr 27.

Department of Small Animal Clinical Sciences, Western College of Veterinary Medicine, University of Saskatchewan, Saskatoon, SK, Canada.

Objectives: (i) To evaluate immunohistochemical labeling of pre-iridal monocellular and fibrovascular membranes and (ii) describe the light and scanning electron microscopic (SEM) characteristics of these membranes in glaucomatous and normal/control canine globes.

Materials And Methods: All globes were evaluated with light microscopy. Immunohistochemical labeling for CD18, Smooth muscle actin (SMA), and CD117 was completed on 40 canine globes with congenital/anterior segment dysgenesis-associated glaucoma (n = 10), primary/goniodysgenesis-associated glaucoma (n = 10), secondary glaucoma (n = 10), and normal/control globes (n = 10). Read More

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Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry.

Ophthalmology 2021 Apr 20. Epub 2021 Apr 20.

Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia.

Purpose: To report the relative frequencies of childhood and early onset glaucoma subtypes and their genetic findings in a large single cohort.

Design: Retrospective clinical and molecular study.

Participants: All individuals with childhood glaucoma (diagnosed 0 to <18 years) and early onset glaucoma (diagnosed 18 to <40 years) referred to a national disease registry. Read More

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Long-term structural and functional outcomes of primary congenital glaucoma.

Graefes Arch Clin Exp Ophthalmol 2021 Apr 22. Epub 2021 Apr 22.

Department of Ophthalmology, National Taiwan University Hospital, No 7, Chung-Shan S. Rd., Taipei, 100, Taiwan.

Purpose: To investigate the clinical characteristics and long-term outcomes of primary congenital glaucoma (PCG) patients.

Methods: In this retrospective, longitudinal, cohort study, PCG patients with reliable visual field (VF) tests and optical coherence tomography (OCT) were included. Disease progression was detected using guided progression analysis with OCT and the change analysis of mean deviation (MD) slope with VF tests. Read More

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Etiologies and clinical characteristics of young patients with angle-closure glaucoma: a 15-year single-center retrospective study.

Graefes Arch Clin Exp Ophthalmol 2021 Apr 19. Epub 2021 Apr 19.

Department of Ophthalmology & Visual Science, Eye & ENT Hospital, Shanghai Medical College, Fudan University, 83 Fenyang Road, Shanghai, 200031, China.

Purpose: To investigate the etiologies and the clinical characteristics of angle-closure glaucoma (ACG) patients younger than 40 years old in Chinese.

Methods: Inpatients with diagnosis of ACG and diagnosed age younger than or equal to 40 years old, who were admitted in Eye, Ear, Nose, and Throat Hospital Fudan University from 2002 to 2017, were included in this retrospective non-comparative case series. The underlying causes and clinical features for all the patients were analyzed by comprehensive review of medical charts. Read More

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Lens in Primary Congenital Glaucoma Eyes Treated by Combined Angle and Filtering Surgery.

Eye Contact Lens 2021 Apr 9. Epub 2021 Apr 9.

Ophthalmology Department, Alexandria University Faculty of Medicine (N.B., N.E.S., E.N.E.), Alexandria, Egypt; and Ophthalmology Department, Alexandria University Main Hospital (M.F.), Alexandria, Egypt.

Purpose: To report on the changes in the natural crystalline lens in primary congenital glaucoma (PCG) eyes that had undergone previous combined angle-filtering surgery with antimetabolites.

Settings: The pediatric ophthalmology unit of the ophthalmology department of Alexandria Main University Hospital.

Design: A retrospective chart review. Read More

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Ab interno 180-degree trabeculectomy with a dual blade in a patient with refractory primary congenital glaucoma.

Eur J Ophthalmol 2021 Apr 16:11206721211010402. Epub 2021 Apr 16.

Department of Ophthalmology, Gulhane School of Medicine, University of Health Sciences, Ankara, Turkey.

A 13-year-old female patient with refractory primary congenital glaucoma (PCG) in the right eye who had a history of multiple glaucoma operations underwent ab interno 180-degree trabeculectomy with the Kahook Dual Blade (KDB) targeting the nasal and inferior angles. On postoperative day 1, the intraocular pressure (IOP) of the right eye reduced from 43 to 15 mmHg while on medical therapy. The patient maintained this IOP level throughout the 6-month follow-up. Read More

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An Assessment of GUCA1C Variants in Primary Congenital Glaucoma.

Genes (Basel) 2021 Mar 2;12(3). Epub 2021 Mar 2.

Department of Neuroscience, Division of Biochemistry, University of Oldenburg, 26129 Oldenburg, Germany.

In the special issue "Molecular Genetics of Retinal Dystrophies", Morales-Cámara and colleagues reported the association of a new candidate gene with primary congenital glaucoma (PCG) [... Read More

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Outcome of vision screening by community health workers at immunization outlets in Nigeria to support access to early visual evaluation in children aged 0-2 years.

Taiwan J Ophthalmol 2021 Jan-Mar;11(1):77-85. Epub 2020 Oct 21.

Pediatrics and Child Health, University of Ilorin Teaching Hospital, University of Ilorin, Ilorin, Nigeria.

Purpose: Routine eye examination in early life is not the practice in most resource-limited countries. Delay in the presentation for eye problems is typical. Community health officers are often consulted by caregivers for all health problems during routine immunization and well-baby clinics in primary healthcare for children aged 0-2 years. Read More

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October 2020

Alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and overgrowth - Association with a homozygous 2bp-insertion in LTBP2?

Eur J Med Genet 2021 Jun 22;64(6):104209. Epub 2021 Mar 22.

Department of Pediatrics, RWTH Aachen University Hospital, Aachen, Germany.

We present a male infant with alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and macrosomia/macrocephaly at birth. Whole-exome sequencing revealed a homozygous 2bp-insertion in the latent transforming growth factor-beta binding protein 2 (LTBP2) (c.278_279dup, p. Read More

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Surgical Outcomes of Primary Congenital Glaucoma in Children Under One Year from the Nile Delta.

Clin Ophthalmol 2021 16;15:1145-1151. Epub 2021 Mar 16.

Ophthalmology Department, Benha University, Benha, Egypt.

Purpose: To present outcomes of surgical management of primary congenital glaucoma (PCG) in children less than one year of age in a population based at the Nile Delta.

Methods: A retrospective review of medical records of patients with PCG less than one year of age at presentation who underwent surgical intervention in a tertiary care facility based at the Nile Delta. All patients underwent measurement of intraocular pressure (IOP), horizontal corneal diameter (HCD), cup-to-disc ratio (CDR) before and after surgery and a minimum of 6 months follow up was required. Read More

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Absence of Cytochrome P450-1b1 Increases Susceptibility of Pressure-Induced Axonopathy in the Murine Retinal Projection.

Front Cell Dev Biol 2021 5;9:636321. Epub 2021 Mar 5.

Department of Pharmaceutical Sciences, Northeast Ohio Medical University, Rootstown, OH, United States.

Mutations in the cytochrome P450-1B1 (Cyp1b1) gene is a common genetic predisposition associated with various human glaucomas, most prominently in primary congenital glaucoma (PCG). The role of Cyp1b1 in the eye is largely unknown, however, its absence appears to drive the maldevelopment of anterior eye structures responsible for aqueous fluid drainage in murine models. Nevertheless, vision loss in glaucoma ultimately results from the structural and functional loss of retinal ganglion cells (RGCs). Read More

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Genetic analysis of patients with primary congenital glaucoma.

Int Ophthalmol 2021 Mar 21. Epub 2021 Mar 21.

Department of Ophthalmology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey.

Purpose: To determine the common gene mutation in patients with primary congenital glaucoma (PCG) in the Southeast region of Turkey via genetic analysis and to evaluate whether there were other gene mutations in these patients.

Methods: A total of 25 patients with PCG were included in this study. We performed sequence analysis including all exons of cytochrome p450 1B1 (CYP1B1), myocilin (MYOC), forkhead box C1 (FOXC1), and paired-like homeodomain 2 (PITX2) genes of the obtained samples. Read More

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Circumferential (360°) trabeculotomy in primary congenital glaucoma: 19-245 months of follow-up.

Acta Ophthalmol 2021 Mar 19. Epub 2021 Mar 19.

Department of Ophthalmology, Oslo University Hospital, Oslo, Norway.

Purpose: To evaluate the long-term efficacy and safety of circumferential trabeculotomy (CT) in the treatment of primary congenital glaucoma (PCG).

Methods: Retrospective, single-institutional case series of CT performed for PCG in years 1997-2016. The surgery could be completed in 42 out of 65 eyes (65%) intended for CT, and 39 of them were included in the study. Read More

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Somatic GNAQ R183Q mutation is located within the sclera and episclera in patients with Sturge-Weber syndrome.

Br J Ophthalmol 2021 Mar 11. Epub 2021 Mar 11.

Department of Ophthalmology, Shanghai 9th People's Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200011, China

Aims: To determine the correspondence between GNAQ R183Q (c.548G>A) mutation in abnormal scleral tissue of patients with Sturge-Weber syndrome (SWS) secondary glaucoma and explore the role of GNAQ R183Q in glaucoma pathogenesis.

Methods: Episcleral tissues were obtained from 8 patients: SWS secondary glaucoma (n=5) and primary congenital glaucoma (PCG, n=3). Read More

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Human recombinant nerve growth factor (Cenegermin) in a patient affected by primary congenital glaucoma with neurotrophic keratopathy.

Eur J Ophthalmol 2021 Mar 3:1120672121999344. Epub 2021 Mar 3.

Department of Surgical & Clinical, Diagnostic and Pediatric Sciences, Section of Ophthalmology, University of Pavia - IRCCS Fondazione Policlinico San Matteo, Pavia, Italy.

Purpose: To report a case of neurotrophic keratopathy (NK) in a patient affected by primary congenital glaucoma (PCG) who undergone glaucoma drainage implant surgery. NK was successfully treated with human recombinant Nerve Growth Factor (Cenegermin) eye drops.

Case Report Description: A 46-years-old patient affected by primary congenital glaucoma underwent Ahmed glaucoma valve implantation in the right eye, after several unsuccessful surgeries to control intraocular pressure (IOP) since the age of three. Read More

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Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.

Ophthalmic Epidemiol 2021 Feb 28:1-12. Epub 2021 Feb 28.

Department of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha. Qatar.

Purpose: Primary congenital glaucoma (PCG) is a rare glaucoma type that develops in early infantile period and contributes to an elevated pressure on ocular cavity. Variants in gene are the most encountered in PCG cases. The prevalence of PCG is relatively high among Arabs, however its genetic epidemiology remains understudied. Read More

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February 2021

Visual evoked potentials changes with surgery in primary congenital glaucoma: a pilot study.

Int Ophthalmol 2021 Jun 26;41(6):1981-1988. Epub 2021 Feb 26.

Ophthalmology Department, Faculty of Medicine, Alexandria University, 311 Horeya Avenue, Alexandria, Egypt.

Objective: To report the flash visual evoked potential (VEP) findings in children with primary congenital glaucoma (PCG) before and after successful surgical control of the intraocular pressure (IOP).

Methods: The study enrolled children presenting with PCG to the Ophthalmology Department of Alexandria Main University Hospital in the period between June and December 2019. All study participants were subjected to a standard protocol of examination, to confirm the diagnosis of PCG. Read More

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Ab Interno Goniotomy Combined with Ab Externo Trabeculotomy in Advanced Primary Congenital Glaucoma Patients: 2-Year Follow-Up.

Hazem Helmy

Clin Ophthalmol 2021 15;15:565-574. Epub 2021 Feb 15.

Glaucoma Unit, Glaucoma and Optic Nerve Disease Department, Research Institute of Ophthalmology; RIO, Giza, Egypt.

Introduction: Primary congenital glaucoma (PCG) is a challenging disease that needs to be surgically managed with more innovative methods. Conventional incisional surgery, such as goniotomy and trabeculotomy, has a primary high success rate, but does not seem to be a very effective treatment in advanced stages.

Design: A prospective clinical case study. Read More

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February 2021