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Congenital glaucoma

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https://www.readbyqxmd.com/read/28730218/the-morphogen-behind-primary-congenital-glaucoma-and-the-dream-of-targeting
#1
Kyrillus Samaan Shohdy, Wegdan Aly Rashad, Mohamed Khalid Fargoun, Phillippe Urban
Glaucoma is a clinical entity with multifactorial etiology, a severe subtype occurs in infancy called primary congenital glaucoma (PCG). Three distinct levels interact sequentially to produce PCG: (i) genetic mutations mainly affecting the CYP1B1 gene, (ii) absence or dysregulation of a morphogen, and (iii) trabecular meshwork pathological changes either in patterning or remodeling. We will discuss these three levels in detail towards further understanding of the morphological basis of the disease, focusing on the missing points, for instance the exact nature and function of the morphogen along with the putative role of CYP1B1 gene...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28730083/viscocanalostomy-combined-with-trabeculotomy-and-mitomycin-c-in-the-treatment-of-primary-congenital-glaucoma
#2
Chao-Xu Qian, Yuan Zong, Qin Chen, Zhi-Lan Yuan
AIM: To evaluate the long-term outcome of viscocanalostomy combined with trabeculotomy and mitomycin C in the treatment of primary congenital glaucoma. METHODS: This is a retrospective study. Forty-two eyes of 26 patients with primary congenital glaucoma were enrolled. Intraocular pressure (IOP), corneal diameter (mm) and cup/disc (C/D) were measured before and after the surgery respectively. Follow-up period was 30mo. RESULTS: The mean preoperative IOP was 30...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28728861/-vitiligo-occurring-on-dermal-melanocytosis-nevus-of-ota-in-a-dark-skinned-patient
#3
K-C Ahogo, I-P Gbery, B Vagamon, O-A Ouattara, K-A Kouassi, H-S Kourouma, Y-I Kouassi
BACKGROUND: Nevus of Ota is a rare disease most frequently found in Asians. It presents clinically as a bluish gray hyperpigmentation of one side of the face. Transformation into melanoma and glaucoma are the main risks. The appearance of vitiligo lesions with poliosis within a nevus of Ota is exceptional. PATIENTS AND METHODS: A 22-year-old female patient with a nevus of Ota consulted for depigmentation of the eyelashes. Physical examination revealed hyperpigmentation in the right orbitofrontal part of her face, achromic macules and eyelash poliosis...
July 17, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28722276/identification-and-functional-analysis-of-an-adamtsl1-variant-associated-with-a-complex-phenotype-including-congenital-glaucoma-craniofacial-and-other-systemic-features-in-a-three-generation-human-pedigree
#4
Kathryn Hendee, Lauren Weiping Wang, Linda M Reis, Gregory M Rice, Suneel S Apte, Elena V Semina
Developmental glaucoma can occur as an isolated or syndromic condition and is genetically heterogeneous. We describe a three-generation family affected with developmental glaucoma, myopia, and/or retinal defects associated with variable craniofacial/dental, auditory, brain, renal, and limb anomalies. Whole exome sequencing identified a heterozygous c.124T> C, p.(Trp42Arg) allele in ADAMTSL1; co-segregation analysis confirmed the presence of this allele in four affected family members. The mutation affects a highly conserved residue and is strongly predicted to have a deleterious effect on protein function...
July 19, 2017: Human Mutation
https://www.readbyqxmd.com/read/28698196/congenital-glaucoma
#5
Richard M Ratzan
No abstract text is available yet for this article.
July 11, 2017: Medical Humanities
https://www.readbyqxmd.com/read/28676040/congenital-aniridia-with-cataract-case-series
#6
Jin Da Wang, Jing Shang Zhang, Ying Xiong, Jing Li, Xiao Xia Li, Xue Liu, Jing Zhao, Frank F Tsai, Jhanji Vishal, Qi Sheng You, Yao Huang, Xiu Hua Wan
BACKGROUND: This study evaluates patients with congenital aniridia and cataract who underwent phacoemulsification, capsular tension ring placement, and foldable intraocular lens implantation. METHODS: In this prospective case series, 10 patients (17 eyes) underwent cataract surgery via a 3.2 mm clear corneal incision. A continuous circular capsulorhexis with <6 mm diameter was employed. A capsular tension ring and HOYA yellow foldable posterior chamber intraocular lens was implanted...
July 4, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28662941/no-light-perception-outcomes-following-boston-keratoprosthesis-type-1-surgery
#7
Adam K Muzychuk, Georges M Durr, Julien J Shine, Marie-Claude Robert, Mona Harissi-Dagher
PURPOSE: To determine the incidence rate, principal causes, and clinical course of eyes developing no light perception (NLP) visual acuity (VA) following Boston Keratoprosthesis (B-KPro) type 1 surgery. Secondary objectives include determining the incidence rate, relative risk (RR), and survival probability with respect to NLP acuity among eyes with congenital aniridia. DESIGN: Retrospective, interventional case series. SUBJECTS: All patients undergoing B-KPro type 1 surgery between Oct...
June 26, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28644236/cyp1b1-cytopathy-uncommon-phenotype-of-a-homozygous-cyp1b1-deletion-as-internal-corneal-ulcer-of-von-hippel
#8
Valeria Oliva-Biénzobas, Alejandro Navas, Mirena C Astiazarán, Oscar Francisco Chacón-Camacho, Jose A Bermúdez-Magner, Mariana Takane, Enrique Graue-Hernández, Juan Carlos Zenteno
PURPOSE: To report a mutation of CYP1B1 in a newborn with a rare phenotype without the classic features of anterior segment dysgenesis or congenital glaucoma. METHODS: The newborn presented with diffuse corneal edema and bilaterally elevated intraocular pressure (IOP). Ophthalmological examination, ultrasound, and ultrasound biomicroscopy were performed; congenital infections were ruled out. Genetic analysis was performed. The patient underwent penetrating keratoplasty and goniotomy in a single surgical time...
June 21, 2017: Cornea
https://www.readbyqxmd.com/read/28636141/binocular-facilitation-of-cone-specific-visual-evoked-potentials-in-colour-deficiency
#9
Jeff Rabin, Andrew Kryder, Dan Lam
BACKGROUND: Neural compensatory mechanisms have been proposed, which preserve the binocular visual field in glaucoma, as well as cognition in Alzheimer's disease and motor function in Parkinson's disease. It is conceivable that comparable mechanisms operate to preserve function in congenital and/or dystrophic disease. In hereditary colour vision deficiency (CVD), we observed significant facilitation in the amplitude of the binocular cone-specific visual evoked potential (VEP) compared to the monocular amplitude for the cone type corresponding to the CVD...
June 21, 2017: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/28626825/phace-s-syndrome-report-of-a-case-with-new-ocular-and-systemic-manifestations
#10
Raheleh Assari, Vahid Ziaee, Sasan Moghimi, Mohammad Reza Akbari, Arash Mirmohammadsadeghi
PURPOSE: To describe an infant with PHACE(S) syndrome [posterior fossa anomalies (P), hemangiomas (H), arterial anomalies (A), cardiac abnormalities and coarctation of aorta (C), eye abnormalities (E), and the sternal defects (S)] with unusual strabismus, congenital glaucoma, and new systemic manifestations. METHODS: A 6-month-old girl was referred with large hemangiomas on the left side of the face. RESULTS: In the ocular examination, right esotropia and hypotropia, and limitation of elevation in adduction in the right eye were seen...
June 2017: Journal of Current Ophthalmology
https://www.readbyqxmd.com/read/28624326/randomized-trial-on-illuminated-microcatheter-circumferential-trabeculotomy-versus-conventional-trabeculotomy-in-congenital-glaucoma
#11
Jyoti Shakrawal, Shveta Bali, Talvir Sidhu, Saurabh Verma, Ramanjit Sihota, Tanuj Dada
PURPOSE: To compare one year outcomes of illuminated microcatheter-assisted circumferential trabeculotomy(IMCT) vs conventional partial trabeculotomy(CPT) for Primary Congenital Glaucom (PCG). DESIGN: Randomized clinical trial METHODS: Forty eyes of 31 patients with unilateral or bilateral primary congenital glaucoma aged less than two years were randomized to undergo IMCT (20 eyes) or CPT (20 eyes). Primary outcome measure was IOP reduction. The success criterion was defined as intraocular pressure (IOP) ≤ 12 mm Hg without and with anti-glaucoma medications (absolute success and qualified success respectively)...
June 14, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28620713/angiopoietin-receptor-tek-interacts-with-cyp1b1-in-primary-congenital-glaucoma
#12
Meha Kabra, Wei Zhang, Sonika Rathi, Anil K Mandal, Sirisha Senthil, Goutham Pyatla, Muralidhar Ramappa, Seema Banerjee, Konegari Shekhar, Srinivas Marmamula, Asha L Mettla, Inderjeet Kaur, Rohit C Khanna, Hemant Khanna, Subhabrata Chakrabarti
Primary congenital glaucoma (PCG) is a severe autosomal recessive ocular disorder associated with considerable clinical and genetic heterogeneity. Recently, rare heterozygous alleles in the angiopoietin receptor-encoding gene TEK were implicated in PCG. We undertook this study to ascertain the second mutant allele in a large cohort (n = 337) of autosomal recessive PCG cases that carried heterozygous TEK mutations. Our investigations revealed 12 rare heterozygous missense mutations in TEK by targeted sequencing...
August 2017: Human Genetics
https://www.readbyqxmd.com/read/28617521/regular-versus-releasable-sutures-in-surgery-for-primary-congenital-glaucoma
#13
Nader H Bayoumi
PURPOSE: To compare releasable and regular sutures in combined angle and filtering surgery for primary congenital glaucoma. METHODS: A prospective study was conducted on 39 eyes (26 right eyes) of 39 children (20 boys; 19 girls) who had primary congenital glaucoma treated with combined trabeculotomy-trabeculectomy with mitomycin C and scleral flap closure with regular or releasable sutures. Follow-up was 24 months. Success rates (defined as an intraocular pressure [IOP] < 16 mm Hg without hypotony-related complications and/or lack of IOP-related progression of the disease) were studied and complications were noted...
June 15, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28613427/clinical-anatomy-of-the-anterior-chamber-angle-in-congenital-aniridia-and-consequences-for-trabeculotomy-cyclophotocoagulation
#14
Arne Viestenz, Berthold Seitz, Eva Deland, Miltiadis Fiorentzis, Lorenz Latta, Anja Viestenz, Barbara Käsmann-Kellner
INTRODUCTION: Intraocular pressure (IOP) lowering surgery in congenital aniridia glaucoma (CAG) can be complicated by dysgenesis of the limbal region, anterior chamber angle, iris and lens. METHODS: The anterior segments of 23 eyes (17 patients) with congenital aniridia were investigated under general anesthesia using ultrasound biomicroscopy (UBM). The structures of the anterior segment were examined: distance of ciliary body processes from the anterior chamber angle and positioning of Schlemm's canal...
June 14, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/28599093/clinical-and-molecular-cytogenetic-characterization-of-four-unrelated-patients-carrying-2p14-microdeletions
#15
Marie-Laure Mathieu, Caroline Demily, Sandra Chantot-Bastaraud, Alexandra Afenjar, Cyril Mignot, Joris Andrieux, Marion Gerard, Jaume Catala-Mora, Pierre Simon Jouk, Audrey Labalme, Patrick Edery, Damien Sanlaville, Massimiliano Rossi
We report the clinical and molecular cytogenetic characterization of four unrelated patients from France and Spain, carrying 2p14 microdeletions and presenting with intellectual disability and dysmorphisms. 2p14 microdeletions are very rare. Seven patients have been reported so far harboring deletions including 2p14p15 and encompassing OTX1, whose haploinsufficiency is frequently associated with genitourinary defects. To date, only one patient has been reported carrying a more proximal 2p14 microdeletion which does not include OTX1...
June 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28574493/agreement-in-central-corneal-thickness-measurements-between-optical-and-ultrasound-pachymeters-in-patients-with-primary-congenital-glaucoma
#16
M R Razeghinejad, Z Tajbakhsh, M H Nowroozzadeh
No abstract text is available yet for this article.
June 2, 2017: Eye
https://www.readbyqxmd.com/read/28573046/a-comparative-study-the-use-of-collagen-implant-versus-mitomycin-c-in-combined-trabeculotomy-and-trabeculectomy-for-treatment-of-primary-congenital-glaucoma
#17
Alaa Abdel Sadek Singab, Osama Ali Mohammed, Mohammed Iqbal Hafez Saleem, Mortada Ahmed Abozaid
PURPOSE: To compare Ologen implant versus mitomycin-C (MMC) in combined trabeculotomy and trabeculectomy as a treatment of primary congenital glaucoma. SETTING: Sohag University Hospital, Egypt. DESIGN: A prospective comparative study. METHODS: Thirty-four eyes of twenty-one patients with primary congenital glaucoma were included in this study. All patients were subjected to preoperative evaluation including complete anterior segment examination under general anesthesia...
2017: Journal of Ophthalmology
https://www.readbyqxmd.com/read/28549150/primary-congenital-and-developmental-glaucomas
#18
Carly Lewis, Adam Hedberg-Buenz, Adam P DeLuca, Edwin M Stone, Wallace L M Alward, John H Fingert
Glaucoma is the leading cause of irreversible blindness worldwide. Although most glaucoma patients are elderly, congenital glaucoma and glaucomas of childhood are also important causes of visual disability. Primary congenital glaucoma (PCG) is isolated, non-syndromic glaucoma that occurs in the first three years of life and is a major cause of childhood blindness. Other early-onset glaucomas may arise secondary to developmental abnormalities, such as glaucomas that occur with aniridia or as part of Axenfeld-Rieger syndrome...
May 26, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28527653/ultrasound-biomicroscopy-measurement-of-schlemm-s-canal-in-pediatric-patients-with-and-without-glaucoma
#19
Anika Tandon, Caroline Watson, Ramesh Ayyala
PURPOSE: To compare the diameter of Schlemm's canal in children with and without congenital glaucoma as measured in vivo by means of ultrasound biomicroscopy. METHODS: In this prospective single-center study of pediatric subjects (<18 years of age) the diameter of Schlemm's canal in nonglaucomatous and glaucomatous eyes was compared. An 80 MHz iUltrasound probe (iScience Interventional Inc, Menlo Park, CA) placed near the limbus was used to identify and measure the canal's diameter with special attention to the anterior segment anatomy (especially in subjects with congenital glaucoma)...
May 18, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28524147/-complex-treatment-results-in-a-congenital-glaucoma-patient-case-report
#20
O L Fabrikantov, S I Nikolashin, Yu V Matrosova, V A Kozlov, A E Kopylov, E S Pirogova
Early diagnosis of congenital glaucoma allows surgery to be performed at the stage of reversible glaucomatous alterations of the optic disc and retina. In primary congenital glaucoma, the main reason for visual acuity reduction following surgical stabilization of the intraocular pressure are corneal changes. These include an increased corneal diameter, Haab's striae, areas of thickening and a greater posterior elevation. The resultant irregular astigmatism leads to amblyopia and a marked decrease in visual acuity...
2017: Vestnik Oftalmologii
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