858 results match your criteria Glaucoma Primary Congenital


Congenital Refractory Glaucoma: a New Ophthalmic Association of Kabuki Syndrome and its Management with Glaucoma Drainage Devices.

J Glaucoma 2019 Jan 22. Epub 2019 Jan 22.

Glaucoma Research Center, Montchoisi Clinic, Swiss Visio Network, Lausanne, Switzerland.

Introduction: Kabuki syndrome (KS) is a rare congenital and polymalformative condition, traditionally associated with mental retardation, unusual facial features and skeletal abnormalities. We hereby describe a case of bilateral congenital glaucoma associated with MLL2-mutation Kabuki Syndrome. To the best of our knowledge, this is the first association of KS with congenital glaucoma. Read More

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http://dx.doi.org/10.1097/IJG.0000000000001201DOI Listing
January 2019

Two novel variants in gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients.

Int J Ophthalmol 2019 18;12(1):8-15. Epub 2019 Jan 18.

Molecular Biology and Genetics Department, Liaquat University of Medical and Health Sciences, Jamshoro, Sindh 76090, Pakistan.

Aim: To find the mutations associated with primary congenital glaucoma (PCG) in Pakistani consanguineous pedigrees.

Methods: After getting informed consent, 11 consanguineous pedigrees belonging to different ethnic groups were enrolled. Detailed medical history was recorded and pedigrees were drawn. Read More

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http://www.ijo.cn/gjyken/ch/reader/view_abstract.aspx?file_n
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http://dx.doi.org/10.18240/ijo.2019.01.02DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326927PMC
January 2019
4 Reads

Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.

JAMA Ophthalmol 2019 Jan 17. Epub 2019 Jan 17.

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

Importance: Both primary and secondary forms of childhood glaucoma have many distinct causative mechanisms, and in many cases a cause is not immediately clear. The broad phenotypic spectrum of secondary glaucoma, particularly in individuals with variants in FOXC1 or PITX2 genes associated with Axenfeld-Rieger syndrome, makes it more difficult to diagnose patients with milder phenotypes. These cases are occasionally classified and managed as primary congenital glaucoma. Read More

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http://archopht.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaophthalmol.2018.5646DOI Listing
January 2019
4 Reads

LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.

Am J Med Genet A 2019 Jan 18;179(1):104-112. Epub 2018 Dec 18.

Pediatric Cardiology and Arrhythmology Unit, Department of Pediatric Cardiology and Cardiac Surgery, IRCCS-Bambino Gesù Children Hospital and Research Institute, Rome, Italy.

Recessive variants in LTBP2 are associated with eye-restricted phenotypes including (a) primary congenital glaucoma and (b) microspherophakia/megalocornea and ectopia lentis with/without secondary glaucoma. Nosology of LTBP2 pathology in humans is apparently in contrast with the consolidated evidence of a wide expression of this gene in the developing embryo. Accordingly, in previously published patients with LTBP2-related eye disease, additional extraocular findings have been occasionally reported and include, among others, high-arched palate, tall stature, and variable cardiac involvement. Read More

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http://doi.wiley.com/10.1002/ajmg.a.10
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http://dx.doi.org/10.1002/ajmg.a.10DOI Listing
January 2019
7 Reads

Haab striae: Optical coherence tomographic analysis.

J Fr Ophtalmol 2019 Jan 13;42(1):11-15. Epub 2018 Dec 13.

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

Purpose: To study Haab striae in adults with primary congenital glaucoma and describe them by anterior segment optical coherence tomography, as well as analyze their evolution over the patient's lifetime.

Material And Methods: Three patients with primary congenital glaucoma were recruited, aged between 17 and 48 years old, with incidentally noted Haab striae on glaucoma consultation. They were studied by: slit lamp; anterior segment optical coherence tomography, Heidelberg Engineering Inc. Read More

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http://dx.doi.org/10.1016/j.jfo.2018.05.007DOI Listing
January 2019

Ahmed Glaucoma Valve Revision versus Visco-Trabeculotomy After Failed Ahmed Glaucoma Valve in Refractory Pediatric Glaucoma.

J Glaucoma 2018 Dec 10. Epub 2018 Dec 10.

Ophthalmology. Faculty of Medicine. Alexandria University. Alexandria, Egypt.

Purpose: To compare the outcome on the IOP of Ahmed Glaucoma Valve (AGV) revision to Visco-trabeculotomy (VT) in children eyes with failed AGV.

Patients And Methods: A prospective randomized study conducted on 41 children (41 eyes) with uncontrolled glaucoma with an AGV presenting to the pediatric ophthalmology clinic of Mansoura Ophthalmic Center between 2011 and 2016. Study eyes were randomized to AGV revision or VT. Read More

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http://dx.doi.org/10.1097/IJG.0000000000001149DOI Listing
December 2018
3 Reads
2.427 Impact Factor

CYP1B1 Gene and Phenotypic Correlation in Patients From Northeastern Brazil With Primary Congenital Glaucoma.

J Glaucoma 2019 Feb;28(2):161-164

Hospital das Clínicas, Federal University of Pernambuco (HC-UFPE).

Purpose: To identify variants in the CYP1B1 gene in northeastern Brazilian patients with primary congenital glaucoma (PCG) and possible genotype-phenotype correlations.

Materials And Methods: This is a cross-sectional observational study of 17 nonrelated patients with PCG, performed at the Altino Ventura Foundation, Recife, Brazil, between December 2017 and February 2018. All patients underwent an examination, including gathering information from their medical records, slit-lamp examination, fundoscopy, tonography, and measuring corneal diameter and thickness. Read More

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http://dx.doi.org/10.1097/IJG.0000000000001132DOI Listing
February 2019
2 Reads

Quality of life following surgery for congenital glaucoma: findings of the LVPEI congenital glaucoma registry.

Eye (Lond) 2018 Dec 5. Epub 2018 Dec 5.

Jasti V Ramanamma Children's Eye Care Centre, L V Prasad Eye Institute, Hyderabad, India.

Purpose: To evaluate the health-related quality of life (HRQoL) of children operated for primary congenital glaucoma (PCG) using the Kidscreen-27 questionnaire.

Methods: A total of 121 children (mean age, 11.8 years; SD, 2. Read More

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http://dx.doi.org/10.1038/s41433-018-0293-yDOI Listing
December 2018
2 Reads

Pigmented lesion in the anterior chamber angle following multiple trans-scleral diode laser photocoagulation for congenital glaucoma.

Am J Ophthalmol Case Rep 2019 Mar 14;13:32-33. Epub 2018 Nov 14.

King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

Purpose: To describe a child with primary congenital glaucoma found to have pigment tissue proliferation in the angle following multiple applications of trans-scleral cyclophotocoagulation.

Observations: During examination under anaesthesia, a 4-year-old girl was found to have pigmented tissue overlying the trabecular meshwork. Anterior segment ocular coherence tomography confirmed mounds of abnormal tissue in the angle. Read More

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http://dx.doi.org/10.1016/j.ajoc.2018.11.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6257925PMC

P.Gly61Glu and P.Arg368His Mutations in CYP1B1 that Cause Congenital Glaucoma may be Relatively Frequent in Certain Regions of Gilan Province, Iran.

J Ophthalmic Vis Res 2018 Oct-Dec;13(4):403-410

Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran.

Purpose: To perform a population-based screening of four mutations-p.Gly61Glu, p.Arg368His, p. Read More

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http://dx.doi.org/10.4103/jovr.jovr_147_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6210879PMC
November 2018

Targeted Screening for Predominant CYP1B1 Mutations in Primary Congenital Glaucoma.

J Ophthalmic Vis Res 2018 Oct-Dec;13(4):373-375

Department of Surgery, Molecular Ophthalmic Genetics Laboratory, UConn Health, Farmington, CT, USA.

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http://dx.doi.org/10.4103/jovr.jovr_232_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6210886PMC
November 2018

Clinical Presentation and Management Outcomes of Coexistent Congenital Glaucoma and Retinopathy of Prematurity.

J Glaucoma 2019 Jan;28(1):20-26

Jasti V Ramanamma Children's Eye Care Center.

Purpose: The purpose of this study was to report presentation and outcomes of coexisting congenital glaucoma with retinopathy of prematurity (ROP) in "Indian Twin cities ROP study (ITCROPS)."

Methods: Children with ROP and congenital glaucoma were identified from ITCROPS (prospective digital database) between 1997 and 2016. The presentation, interventions, and outcomes for glaucoma and ROP were evaluated. Read More

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http://dx.doi.org/10.1097/IJG.0000000000001124DOI Listing
January 2019
4 Reads

Systemic Associations of Childhood Glaucoma: A Review.

J Pediatr Ophthalmol Strabismus 2018 Nov;55(6):397-402

Purpose: To review systemic associations of childhood glaucoma.

Methods: Patients younger than 15 years and diagnosed as having glaucoma were divided into four groups: isolated primary congenital glaucoma, glaucoma with other congenital ocular anomalies, congenital glaucoma with known systemic diseases, and secondary glaucoma. Prevalence and type of systemic associations in each group were studied. Read More

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https://www.healio.com/doiresolver?doi=10.3928/01913913-2018
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http://dx.doi.org/10.3928/01913913-20180905-01DOI Listing
November 2018
7 Reads

Quality of life and visual function in children with glaucoma in Spain.

Arch Soc Esp Oftalmol 2018 Nov 13. Epub 2018 Nov 13.

Unidad de Glaucoma, Servicio de Oftalmología, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, España.

Objective: To evaluate the effect of glaucoma on visual function, as well as quality of life in children and quality of life perceived by caregivers in children up to 16 years of age.

Material And Methods: An observational and prospective study was designed using the questionnaire GQL-15 (Glaucoma Quality of Life) and conducted on children and caregivers. The questionnaire VFQ-25 (Visual Functioning Questionnaire) was conducted on children. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03656691183027
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http://dx.doi.org/10.1016/j.oftal.2018.09.001DOI Listing
November 2018
6 Reads

5-year outcomes after primary intraocular lens implantation in children aged 2 years or younger with congenital or infantile cataract: findings from the IoLunder2 prospective inception cohort study.

Lancet Child Adolesc Health 2018 Dec 31;2(12):863-871. Epub 2018 Oct 31.

Life Course Epidemiology and Biostatistics Section, UCL Great Ormond Street Institute of Child Health, University College London, London, UK; UCL Institute of Ophthalmology, University College London, London, UK; Great Ormond Street Hospital NHS Foundation Trust, London, UK; NIHR Moorfields Eye Hospital Biomedical Research Centre, London, UK; Moorfields Eye Hospital NHS Foundation Trust, London, UK; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK. Electronic address:

Background: International initiatives to prevent childhood blindness have highlighted the importance of early, effective intervention for congenital and infantile cataract. In the UK, intraocular lens implantation has been widely adopted by surgeons to treat these conditions. However, evidence about the benefits and risks of this technique in different age groups is limited. Read More

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http://dx.doi.org/10.1016/S2352-4642(18)30317-1DOI Listing
December 2018
1 Read

Refractive outcomes of cataract surgery in primary congenital glaucoma.

Eye (Lond) 2018 Oct 31. Epub 2018 Oct 31.

Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Aim: To evaluate refractive outcomes of cataract surgery with intraocular lens (IOL) implantation in operated eyes of primary congenital glaucoma (PCG).

Design: A retrospective case-control study.

Methods: Patients of PCG who developed cataract following trabeculectomy with trabeculotomy were recruited. Read More

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http://www.nature.com/articles/s41433-018-0253-6
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http://dx.doi.org/10.1038/s41433-018-0253-6DOI Listing
October 2018
2 Reads

Microcatheter-assisted Trabeculotomy for Primary Congenital Glaucoma After Failed Glaucoma Surgeries.

J Glaucoma 2019 Jan;28(1):1-6

Beijing Tongren Eye Center, Beijing Tongren Hospital.

Purpose: To evaluate the effectiveness of microcatheter-assisted trabeculotomy (MAT) to treat primary congenital glaucoma after failed previous glaucoma surgeries.

Materials And Methods: Retrospective, noncomparative, interventional case series conducted at Beijing Tongren Eye Center, China. Outcome measures were compared between 3 groups: successful and complete (≥330 degrees) MAT; successful and partial (<330 degrees) MAT; or cases converted to traditional trabeculotomy when the Schlemm's canal could not be catheterized >180 degrees. Read More

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http://dx.doi.org/10.1097/IJG.0000000000001116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309260PMC
January 2019
7 Reads
2.430 Impact Factor

Use of ab interno Kahook Dual Blade trabeculectomy for treatment of primary congenital glaucoma.

Eur J Ophthalmol 2018 Oct 14:1120672118805873. Epub 2018 Oct 14.

2 Department of Ophthalmology, Naval Medical Center, San Diego, CA, USA.

Introduction: Primary congenital glaucoma is a rare ocular disorder that is responsible for 0.01%-0.04% of total blindness worldwide. Read More

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http://journals.sagepub.com/doi/10.1177/1120672118805873
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http://dx.doi.org/10.1177/1120672118805873DOI Listing
October 2018
9 Reads

Factors associated with early and late failure after goniotomy for primary pediatric glaucoma.

Eur J Ophthalmol 2018 Oct 10:1120672118805872. Epub 2018 Oct 10.

Faculty of Medicine, Cairo University, Cairo, Egypt.

Purpose: To analyze the risk factors associated with early and late failure after goniotomy for primary pediatric glaucoma.

Methods: A retrospective study was done on infants who underwent goniotomy as the initial surgical procedure for primary pediatric glaucoma, and had a follow-up period ⩾48 months after surgery. Early and late failures were defined as intraocular pressure ⩾18 mmHg or signs of glaucoma progression before and after the end of first year, respectively. Read More

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http://dx.doi.org/10.1177/1120672118805872DOI Listing
October 2018
1 Read

Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3' splice acceptor site of intron 2.

Congenit Anom (Kyoto) 2018 Sep 30. Epub 2018 Sep 30.

Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

Primary congenital glaucoma (PCG) causes blindness in early age. It has an autosomal recessive pattern of inheritance, hence is more prevalent in populations with frequent consanguineous marriages that occur in the Pakistani population. Mutations in the CYP1B1 gene are commonly associated with PCG. Read More

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http://dx.doi.org/10.1111/cga.12312DOI Listing
September 2018
2 Reads

Corneal Biomechanical Properties and Thickness in Primary Congenital Glaucoma and Normal Eyes: A Comparative Study.

Med Hypothesis Discov Innov Ophthalmol 2018 ;7(2):68-72

Poostchi Ophthalmology Research Center, Department of Ophthalmology, Shiraz University of Medical Sciences, Shiraz, Iran.

The correct estimation of Intraocular Pressure (IOP) is the most important factor in the management of various types of glaucoma. Primary congenital glaucoma is a type of glaucoma that can cause blindness in the absence of control of the IOP. In this retrospective observational study, 95 eyes, including 48 healthy eyes and 47 eyes with Primary Congenital Glaucomatous (PCG) were studied. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146241PMC
January 2018
14 Reads

Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis.

Hum Genet 2018 Sep 21. Epub 2018 Sep 21.

Eye Genetics Research Unit, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, The University of Sydney, Sydney, NSW, 2145, Australia.

Disorders of the anterior segment of the eye encompass a variety of clinical presentations including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters anomaly, as well as syndromal associations. These conditions have a significant impact on vision due to disruption of the visual axis, and also secondary glaucoma which occurs in over 50% of patients. Ocular anterior segment disorders occur due to a complex interplay of developmental, embryological and genetic factors, and often have phenotypic overlaps and genetic heterogeneity. Read More

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http://dx.doi.org/10.1007/s00439-018-1935-7DOI Listing
September 2018

Corneal hysteresis and glaucoma.

Int Ophthalmol 2018 Sep 5. Epub 2018 Sep 5.

Department of Ophthalmology, Yichang Central People's Hospital, The First College of Clinical Medical Science, China Three Gorges University, Yichang, 443003, People's Republic of China.

Purpose: To review and summarize the characteristics of corneal hysteresis (CH) and its relationship with glaucoma.

Methods: A PubMed search was carried out using the terms "corneal hysteresis", "glaucoma", and "biomechanics". Up to March 2018, all studies published in English are included in this review. Read More

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http://dx.doi.org/10.1007/s10792-018-1011-2DOI Listing
September 2018
1 Read

Decompression retinopathy following nonpenetrating deep sclerectomy for primary congenital glaucoma.

BMC Ophthalmol 2018 Sep 5;18(1):240. Epub 2018 Sep 5.

Centre Hospitalier Universitaire de l'Hôpital Nord, chemin des Bourrely, 13015, Marseille, France.

Background: To describe a unique case of decompression retinopathy manifesting as pre-macular subhyaloid hemorrhage that occurs in a nine-day old child after undergoing a non-penetrating deep sclerectomy for primary congenital glaucoma.

Case Presentation: We report a single case of a 9-day-old boy who was referred to our department of ophthalmology for bilateral buphtalmia and corneal edema. He presented marked elevation of the intraocular pressure in both eyes (22 mmHg and 26 mmHg, in the right eye and left eye respectively) associated with significant optic nerve cupping. Read More

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https://bmcophthalmol.biomedcentral.com/articles/10.1186/s12
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http://dx.doi.org/10.1186/s12886-018-0906-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126034PMC
September 2018
13 Reads

Corneal Configurations and High-order Aberrations in Primary Congenital Glaucoma.

J Glaucoma 2018 Dec;27(12):1112-1118

State Key Laboratory of Ophthalmology, Zhongshan Opthalmic Center, Sun Yat-Sen University, Guangzhou, People's Republic of China.

Purpose: Corneal changes are prevalent in eyes with primary congenital glaucoma (PCG). This study aimed to describe corneal irregularity and high-order aberrations (HOAs) in PCG eyes.

Materials And Methods: The study consecutively enrolled 61 PCG eyes (of 39 participants with PCG) and 61 age-matched control eyes (of 61 healthy participants). Read More

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http://dx.doi.org/10.1097/IJG.0000000000001049DOI Listing
December 2018
2 Reads

Agreement profiles for rebound and applanation tonometry in normal and glaucomatous children.

Eur J Ophthalmol 2018 Sep 4:1120672118795060. Epub 2018 Sep 4.

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

Objectives: To investigate agreement between intraocular pressure measurements by the rebound tonometer and handheld Perkins applanation tonometer in children with and without primary congenital glaucoma and test agreement with intraocular pressure and age variations.

Materials And Methods: A prospective non-interventional comparative study done on 223 eyes of 115 children, 161 normal eyes, and 62 eyes with primary congenital glaucoma. Intraocular pressure measurements were obtained in the upright position by rebound tonometer first, followed by installation of topical anesthetic eye drops (benoxinate), then measured by Perkins applanation tonometer. Read More

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http://dx.doi.org/10.1177/1120672118795060DOI Listing
September 2018
9 Reads

Correlation Between Trabeculodysgenesis Assessed by Ultrasound Biomicroscopy and Surgical Outcomes in Primary Congenital Glaucoma.

Am J Ophthalmol 2018 Dec 22;196:57-64. Epub 2018 Aug 22.

Beijing Tongren Eye Center, Beijing Tongren Hospital, Beijing Institute of Ophthalmology, Capital Medical University, Beijing, China. Electronic address:

Purpose: To evaluate ultrasound biomicroscopy (UBM) characteristics of trabeculodysgenesis and explore its correlation with the outcomes of microcatheter-assisted trabeculotomy (MAT) in eyes with primary congenital glaucoma (PCG).

Design: A prospective, interventional case series.

Methods: Patients with newly diagnosed PCG were consecutively recruited, and subsequently MAT was tried as their first glaucoma surgery. Read More

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http://dx.doi.org/10.1016/j.ajo.2018.08.022DOI Listing
December 2018
7 Reads
3.871 Impact Factor

Risk factors for flat anterior chamber after glaucoma filtration surgery.

Int J Ophthalmol 2018 18;11(8):1322-1329. Epub 2018 Aug 18.

Department of Ophthalmology, the Third Affiliated Hospital, Chongqing Medical University, Chongqing 400016, China.

Aim: To investigate the incidence rate and risk factors for grade III flat anterior chamber (FAC) after glaucoma filtration surgery based on 5-year data.

Methods: Patients who underwent glaucoma filtration surgery in Daping hospital from January 2009 to December 2013 were enrolled in this retrospective study. The incidence of grade III FAC following glaucoma filtration surgery was determined. Read More

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http://dx.doi.org/10.18240/ijo.2018.08.12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090123PMC
August 2018
8 Reads
0.500 Impact Factor

Analysis of sequence alterations in patients with primary open-angle glaucoma of Saudi origin.

Clin Ophthalmol 2018 10;12:1413-1416. Epub 2018 Aug 10.

Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia,

Cytochrome P450 Family 1 Subfamily B Member 1 (; OMIM# 601771) gene encodes one of the cytochrome P450 family of enzymes. mutations have been associated primarily with primary congenital glaucoma (PCG). Similar studies were reported in juvenile open-angle glaucoma, Rieger's and Peters anomalies. Read More

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https://www.dovepress.com/analysis-of-cyp1b1-sequence-altera
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http://dx.doi.org/10.2147/OPTH.S169943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089601PMC
August 2018
9 Reads

Clinical variability of CYP1B1 gene variants in Pakistani primary congenital glaucoma families.

J Pak Med Assoc 2018 Aug;68(8):1205-1211

School of Biological Sciences, University of Punjab, Lahore.

Objective: To explore the spectrum of Cytochrome P450 1B1 gene variants and genotype-phenotype correlations in families affected with primary congenital glaucoma.

Methods: The cross-sectional study was performed at the Department of Biotechnology, Lahore College for Women University, Lahore, and the School of Biological Sciences, University of the Punjab, Lahore, Pakistan, from February 2015 to October 2016. Six consanguineous families having individuals affected with primary congenital glaucoma were recruited from different hospitals of the city. Read More

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August 2018
1 Read

New classification system for pediatric glaucoma: implications for clinical care and a research registry.

Curr Opin Ophthalmol 2018 Sep;29(5):385-394

Sidney Kimmel Medical College at Thomas Jefferson University.

Purpose Of Review: The Childhood Glaucoma Research Network (CGRN) has created a new classification system for childhood glaucoma that has become the first International Consensus Classification. The purpose of this review is to present this classification system and share its use to date.

Recent Findings: The diagnoses of the classification system include glaucoma and glaucoma suspect. Read More

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http://dx.doi.org/10.1097/ICU.0000000000000516DOI Listing
September 2018
35 Reads

Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card.

Eur J Hum Genet 2018 11 8;26(11):1713-1718. Epub 2018 Aug 8.

National Institute for Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, EC1V 9EL, UK.

1. NAME OF THE DISEASE (SYNONYMS): Primary congenital glaucoma (PCG). Glaucoma, congenital (GLC). Read More

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http://dx.doi.org/10.1038/s41431-018-0227-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189180PMC
November 2018
2 Reads

Outcomes of Silicone Ahmed Glaucoma Valve Implantation in Refractory Pediatric Glaucoma.

J Glaucoma 2018 Sep;27(9):769-775

VST Glaucoma Center.

Purpose: The purpose of this study was to report the outcomes of Silicone Ahmed Glaucoma Valve (AGV) implantation in the management of refractory pediatric glaucoma.

Methods: Between 2007 and 2015, 76 eyes of 64 children aged 16 years or younger underwent AGV implantation. We included 65 eyes of 53 children with follow up ≥6 months; 24 eyes had primary congenital glaucoma (PCG) and 41 eyes had secondary pediatric glaucoma (SPG). Read More

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http://Insights.ovid.com/crossref?an=00061198-201809000-0000
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http://dx.doi.org/10.1097/IJG.0000000000001032DOI Listing
September 2018
14 Reads

Long-term outcomes following primary intraocular lens implantation in infants younger than 6 months.

Indian J Ophthalmol 2018 08;66(8):1088-1093

Department of Pediatric Ophthalmology, Strabismus, and Neuro-Ophthalmology, Jasti V Ramanamma Children's Eye Care Centre, Child Sight Institute, L V Prasad Eye Institute, Hyderabad, Telangana, India.

Purpose: To study the long-term safety profile and visual outcomes of primary intraocular lens (IOL) implantation in infants <6 months of age.

Methods: This was a retrospective observational study conducted at a tertiary eye care center in South India. Infants under 6 months meeting the selection criteria who underwent cataract surgery (lens aspiration, primary posterior capsulorhexis, and anterior vitrectomy) with primary IOL implantation between January 2008 and December 2011 and minimum 3-year follow-up were included. Read More

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http://dx.doi.org/10.4103/ijo.IJO_182_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080482PMC
August 2018
2 Reads

Catheter-assisted 360-Degree Trabeculotomy for Congenital Glaucoma.

J Glaucoma 2018 Jul;27(7):572-577

Department of Ophthalmology, University Medical Center Mainz, Mainz.

Purpose: To determine feasibility, efficacy, and safety of ab externo 360-degree trabeculotomy with illuminated microcatheter for congenital glaucoma.

Patients And Methods: The postoperative results of 36 eyes in 23 consecutive patients who underwent 360-degree trabeculotomy for primary congenital glaucoma (PCG) or secondary congenital glaucoma using an illuminated microcatheter were retrospectively analyzed. Success criteria were defined as intraocular pressure (IOP) ≤18 mm Hg without (complete success) and with medication (qualified success). Read More

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http://dx.doi.org/10.1097/IJG.0000000000000966DOI Listing
July 2018
1 Read

Rare Case Of Primary Congenital Glaucoma With Hypoplasia Corpus Callosum.

J Ayub Med Coll Abbottabad 2018 Apr-Jun;30(2):286-288

Division of Neurology, Department of Paediatrics, Surabaya, Indonesia.

Primary congenital glaucoma is a rare disease that causes elevated intraocular pressure within the first three years of life. Few studies have explored the association of primary congenital glaucoma with malformation of corpus callosum. We report on a six-month-old female presenting with unilateral primary congenital glaucoma associated with hypoplasia of corpus callosum in Indonesian infant. Read More

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October 2018
5 Reads

Five-Year Postoperative Outcomes of Bilateral Aphakia and Pseudophakia in Children up to 2 Years of Age: A Randomized Clinical Trial.

Am J Ophthalmol 2018 Sep 12;193:33-44. Epub 2018 Jun 12.

Iladevi Cataract & IOL Research Centre, Ahmedabad, India.

Purpose: Comparative evaluation of complications and visual outcomes following bilateral congenital cataract surgery in children up to 2 years of age with and without primary intraocular lens (IOL) implantation at 5 years follow-up.

Design: Randomized controlled clinical trial.

Methods: Sixty children (120 eyes) up to 2 years of age undergoing bilateral congenital cataract surgery were randomized to Group 1, primary aphakia (n = 30), or Group 2, primary IOL implantation (pseudophakia) (n = 30). Read More

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http://dx.doi.org/10.1016/j.ajo.2018.06.005DOI Listing
September 2018
22 Reads

Bioinformatics analysis of mutation hotspots in Chinese primary congenital glaucoma patients.

Biosci Rep 2018 08 6;38(4). Epub 2018 Jul 6.

Department of Ophthalmology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China

Primary congenital glaucoma (PCG) is an inherited blinding eye disease. The gene was identified as a causal gene for PCG, and many mutations have been found, but no studies have focussed on the molecular epidemiology of in Chinese populations. We aimed to explore the mutation hotspots in Chinese PCG patients and the possible impact of these mutations on the protein structure and function. Read More

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http://dx.doi.org/10.1042/BSR20180056DOI Listing
August 2018
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Causes of Permanent Severe Visual Impairment and Blindness among Jordanian Population.

Middle East Afr J Ophthalmol 2018 Jan-Mar;25(1):25-29

Department of Ophthalmology, King Hussein Medical Center, Amman, Jordan.

Purpose: To report the causes of permanent severe visual impairment and blindness among Jordanian blind people.

Materials And Methods: This study was conducted on 1422 legally blind or worse vision people of all ages who attended the ophthalmic division of a medical committee for evaluation of disabled persons from July 2013 through November 2014. They were divided into two age groups: adult group (998 cases) and childhood group (<16 years, 424 cases). Read More

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http://dx.doi.org/10.4103/meajo.MEAJO_202_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974814PMC
August 2018
1 Read

Effect of Exogenous Alpha-B Crystallin on the Structures and Functions of Trabecular Meshwork Cells.

J Ophthalmol 2018 17;2018:7875318. Epub 2018 Apr 17.

Department of Ophthalmology, Peking University People's Hospital, Eye diseases and Optometry Institute, Beijing Key Laboratory of Diagnosis and Therapy of Retina and Choroid Diseases, College of Optometry, Peking University Health Science Center, Beijing, China.

Purpose: Secondary open-angle glaucoma may develop as a postoperative complication of early childhood cataract surgery. Its mechanism is poorly understood. Surgical removal of cataracts is typically incomplete, and we estimate that this disease is associated with alpha-B crystallin (CRYAB) secreted from the retained lens material. Read More

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http://dx.doi.org/10.1155/2018/7875318DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932433PMC
April 2018
1 Read

Newborn Glaucoma: Do not Forget Infections.

J Glaucoma 2018 Jul;27(7):e131-e132

Postgraduate Institute of Medical Education and Research.

Intrauterine infections can affect various structures of the developing fetal eye. Rubella infection results in congenital cataracts, keratopathy, retinopathy and less commonly, glaucoma. Ophthalmic manifestations of intrauterine cytomegalovirus (CMV) infection have been reported to be chorioretinitis, optic nerve colobomas, and corneal opacities, but have not been implicated in congenital cataract or congenital glaucoma. Read More

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http://dx.doi.org/10.1097/IJG.0000000000000992DOI Listing
July 2018
2 Reads

A Triple Mutation of BetaB2-Crystallin is Necessary to Develop Cataract and Glaucoma.

J Clin Exp Ophthalmol 2017 Oct 27;8(5). Epub 2017 Oct 27.

Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, USA.

Crystallins are the predominant structural proteins in the lens that are evolutionarily related to stress proteins. There are two main crystallin gene families: α-crystallins and β/γ-crystallins. α- and β-crystallins were first considered to be lens-specific, but were recently recognized also as neuronal and retinal proteins. Read More

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http://dx.doi.org/10.4172/2155-9570.1000690DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5967647PMC
October 2017
1 Read

Pretarsal skin height changes in children receiving topical prostaglandin analogue therapy for primary congenital glaucoma.

J AAPOS 2018 Aug 21;22(4):290-293.e1. Epub 2018 May 21.

King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia; Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland.

Purpose: To compare pretarsal skin height (PTSH), as proxy indicator of deepening of the upper eyelid sulcus, in children with primary congenital glaucoma (PCG) treated with topical prostaglandin analogues (PGAs) with PTSH in healthy children (control group 1) and children with PCG but not using PGAs (control group 2).

Methods: We recruited children with PCG who had been using PGAs for at least 6 months (PCG/PGA group). PTSH in all participants was measured using ImageJ software from photographs taken in a standardized manner. Read More

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http://dx.doi.org/10.1016/j.jaapos.2018.01.019DOI Listing
August 2018
17 Reads

Mutational spectrum of the CYP1B1 gene in Iranain primary congenital glaucoma family.

Can J Ophthalmol 2018 Jun 26;53(3):e87-e89. Epub 2017 Oct 26.

Shahid Beheshti University of Medical Science, Tehran, Iran.

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http://dx.doi.org/10.1016/j.jcjo.2017.08.019DOI Listing
June 2018
3 Reads

Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.

Ophthalmic Genet 2018 Aug 21;39(4):450-456. Epub 2018 May 21.

a Department of Ophthalmology , Hadassah-Hebrew University Medical Center , Jerusalem , Israel.

Background: In developed countries, genetically inherited eye diseases are responsible for a high percentage of childhood visual impairment. We aim to report our experience using preimplantation genetic diagnostics (PGD) in order to avoid transmitting a genetic form of eye disease associated with childhood visual impairment and ocular cancer.

Material And Methods: Retrospective case series of women who underwent in vitro fertilization (IVF) and PGD due to a familial history of inherited eye disease and/or ocular cancer, in order to avoid having a child affected with the known familial disease. Read More

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http://dx.doi.org/10.1080/13816810.2018.1474368DOI Listing
August 2018
3 Reads

GLIS1-3 transcription factors: critical roles in the regulation of multiple physiological processes and diseases.

Authors:
Anton M Jetten

Cell Mol Life Sci 2018 Oct 19;75(19):3473-3494. Epub 2018 May 19.

Cell Biology Group, Immunity, Inflammation and Disease Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, 27709, USA.

Krüppel-like zinc finger proteins form one of the largest families of transcription factors. They function as key regulators of embryonic development and a wide range of other physiological processes, and are implicated in a variety of pathologies. GLI-similar 1-3 (GLIS1-3) constitute a subfamily of Krüppel-like zinc finger proteins that act either as activators or repressors of gene transcription. Read More

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http://link.springer.com/10.1007/s00018-018-2841-9
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http://dx.doi.org/10.1007/s00018-018-2841-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6123274PMC
October 2018
9 Reads

Generation of a human induced pluripotent stem cell line from urinary cells of a patient with primary congenital glaucoma using integration free Sendai technology.

Stem Cell Res 2018 05 9;29:162-165. Epub 2018 Apr 9.

Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing, China.

We have generated a human induced pluripotent stem cell (iPSC) line derived from urinary cells of a 10years old patient with primary congenital glaucoma (PCG). The cells were reprogrammed with the human OSKM transcription factors using the Sendai-virus delivery system and shown to have full differentiation potential. The line is available and registered in the human pluripotent stem cell registry as BIOi001-A. Read More

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http://dx.doi.org/10.1016/j.scr.2018.04.004DOI Listing
May 2018
3 Reads

Childhood glaucoma profile in Dakahelia, Egypt: a retrospective study.

Int J Ophthalmol 2018 18;11(4):674-680. Epub 2018 Apr 18.

Community and Public Health Department, Faculty of Medicine, Mansoura University, Mansoura 35516, Egypt.

Aim: To analyze childhood glaucoma regarding its demographics, presentations, different causes and surgical modalities used among patients in Dakahelia and to apply the Childhood Glaucoma Research Network (CGRN) classification retrospectively to evaluate its convenience.

Methods: A retrospective study in which the medical files of all glaucoma patients <16 years old presented to Mansoura Ophthalmic Center, Mansoura University from 2014 to 2017, were retrieved and analyzed. Collected data included: age, gender, laterality, visual acuity (VA), refraction, intraocular pressure (IOP), corneal diameter, cup-disc ratio, types and number of surgeries and antiglaucomatous drugs (AGD) at the first and last visit. Read More

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http://dx.doi.org/10.18240/ijo.2018.04.23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902376PMC
April 2018
4 Reads

[Primary congenital glaucoma neglected: Still a cause of low vision in children in Morocco].

J Fr Ophtalmol 2018 Apr 13;41(4):e155-e157. Epub 2018 Apr 13.

Ophtalmologie A, CHU de Souissi, hôpital des spécialités, Rabat, Maroc.

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http://dx.doi.org/10.1016/j.jfo.2017.06.022DOI Listing

Diagnostic capacity of SD-OCT segmented ganglion cell complex versus retinal nerve fiber layer analysis for congenital glaucoma.

Eye (Lond) 2018 08 12;32(8):1338-1344. Epub 2018 Apr 12.

Ophthalmology Unit, Hospital Clinico San Carlos, Deptartment of Ophthalmology and ORL, Faculty of Medicine, Universidad Complutense de Madrid, Instituto de Investigacion Sanitaria del Hospital Clinico San Carlos (IdISSC), Madrid, Spain.

Purpose: To compare the diagnostic performance of circumpapillary retinal nerve fiber layer (cpRNFL) analysis versus segmented ganglion cell complex analysis both by spectral-domain optical coherence tomography (SD-OCT) in children with primary congenital glaucoma (PCG).

Methods: Participants were 40 children diagnosed with PCG and 60 healthy children. Ophthalmological data collected (for one eye per child) were cup-disc ratio (C/D) and axial length (AL). Read More

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http://dx.doi.org/10.1038/s41433-018-0077-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6085309PMC
August 2018
4 Reads