Read by QxMD icon Read

Congenital glaucoma

Linda M Reis, Rebecca C Tyler, Eric Weh, Kathryn E Hendee, Ariana Kariminejad, Omar Abdul-Rahman, Tawfeg Ben-Omran, Melanie A Manning, Catherine A McCarty, Terrie E Kitchner, Deborah Costakos, Elena V Semina
PURPOSE: The CYP1B1 gene encodes an enzyme that is a member of the cytochrome P450 superfamily. Mutations in CYP1B1 have been mainly reported in recessive pediatric ocular phenotypes, such as primary congenital glaucoma (PCG) and congenital glaucoma with anterior segment dysgenesis (CG with ASD), with some likely pathogenic variants also identified in families affected with adult-onset primary open angle glaucoma (POAG). METHODS: We examined CYP1B1 in 158 pediatric patients affected with PCG (eight), CG with ASD (22), CG with other developmental ocular disorders (11), juvenile glaucoma with or without additional ocular anomalies (26), and ASD or other developmental ocular conditions without glaucoma (91); in addition, a large cohort of adult patients with POAG (193) and POAG-negative controls (288) was examined...
2016: Molecular Vision
W Ammari, S Harrath, S Mbarek, A Mahmoud, W Chebbi, R Messaoud, M Khairallah
OBJECTIVE: To study socio-demographic characteristics and main causes related to visual impairment (VI) as a function of age bracket and to analyze their trends over time in the district of Mahdia. METHOD: A retrospective review was performed on 1487 cases of visual impairment registered with the social authorities in Mahdia, between 1980 and 2013. The social, demographic, vision exam findings and causes were ascertained and analyzed in an SPSS database. Incidence rates of VI and blindness due to various causes were calculated based on the demographic data from the NSI to estimate the time trends using the general linear regression model and Spearman correlation...
October 13, 2016: Journal Français D'ophtalmologie
Y Shi, H Wang, J Yin, X Zhang, M Li, C Xin, X Chen, N Wang
PurposeTo report surgical outcomes of microcatheter-assisted trabeculotomy following failed angle surgeries, and compare those with no previous angle surgery, in primary congenital glaucoma (PCG).MethodsThe early postoperative (12 months) results of 42 eyes of 36 patients who underwent microcatheter-assisted trabeculotomy by single surgeon for PCG were retrospectively analyzed. Group 1, 20 eyes of 16 patients, had no previous angle surgery. Group 2, 22 eyes of 20 patients, had one or two previous failed angle surgeries...
October 14, 2016: Eye
Matthew D Benson, Imran Jivraj, Karim F Damji, Carlos E Solarte
PURPOSE: To report a rare case of congenital glaucoma in a patient with CHARGE syndrome, present gonioscopic photographs, and explore mechanisms of disease that may account for this association. PATIENTS AND METHODS: We describe a 35-week-old girl with previously diagnosed CHARGE syndrome who presented with corneal edema, buphthalmos, and elevated intraocular pressure in the left eye. She was subsequently diagnosed with congenital glaucoma and started on topical and oral therapy...
September 21, 2016: Journal of Glaucoma
Jie-Lei Huang, Jing-Jing Huang, Yi-Min Zhong, Xin-Xing Guo, Xiang-Xi Chen, Xiao-Yu Xu, Xing Liu
BACKGROUND: Early surgical intervention is required for the primary congenital glaucoma (PCG). There are currently few reports on the surgical outcomes in infants with PCG. This study aimed to evaluate the efficacy and safety of trabeculotomy and the postoperative visual outcomes in Chinese newborns with PCG within 4 weeks of birth. METHODS: A total of 21 eyes of 12 patients with PCG who underwent primary trabeculotomy within 4 weeks of birth were retrospectively studied...
2016: Chinese Medical Journal
Paldeep S Atwal
Trisomy 18 (or Edwards syndrome) has an incidence of 1 in 6,000 to 8,000 live births, making it the second most common trisomy after trisomy 21. Ophthalmologic anomalies include epicanthal folds, hypertelorism, and hypoplastic supraorbital ridges, whereas corneal opacities, microcornea, congenital glaucoma, cataract, retinal depigmentation, retinal vascular tortuosity, colobomatous microphthalmia, and cyclopia are thought to be less common; iridolenticular adhesions have not been previously reported. Our patient was a female with confirmed trisomy 18 with ophthalmologic examination revealing corneal opacities and iridolenticular adhesions...
December 2015: Journal of Pediatric Genetics
R A Paletta Guedes, A B Pena, V M Paletta Guedes, A Chaoubah
PURPOSE: To assess the central corneal thickness in primary congenital glaucoma before and after surgical treatment and compare it with a normal population. METHODS: We conducted a longitudinal analysis of primary congenital glaucoma patients, in whom we measured central corneal thickness before and after treatment (Group 1). We compared our results with a normal population (Group 2), who underwent ophthalmological examination under anesthesia for other reasons...
October 2016: Journal Français D'ophtalmologie
Babu Lal Kumawat, Ranjan Gupta, Arundhati Sharma, Seema Sen, Shikha Gupta, Radhika Tandon
BACKGROUND: Congenital hereditary endothelial dystrophy (CHED) is an autosomal recessive disorder characterized by bilateral, symmetrical, noninflammatory corneal clouding (edema) present at birth or shortly thereafter. This study reports on an unusual delayed presentation of CHED with compound heterozygous SLC4A11 mutations. MATERIALS AND METHODS: A 45-year-old female, presenting with bilateral decreased vision since childhood that deteriorated in the last 5 years, was evaluated to rule out trauma, viral illness, chemical injury, glaucoma, and corneal endothelial dystrophies...
July 2016: Indian Journal of Ophthalmology
Remzi Karadag, Tommy Cy Chan, Amir A Azari, Parveen K Nagra, Kristin M Hammersmith, Christopher J Rapuano
PURPOSE: To review the indications and outcomes of children undergoing primary penetrating keratoplasty and identify prognostic factors for graft survival. DESIGN: Retrospective, interventional case series. METHODS: Medical records of every child 12 years of age or younger who underwent primary penetrating keratoplasty at Wills Eye Hospital Cornea Service between 2007 and 2015 were reviewed. Survival of the primary graft was analyzed using the Kaplan-Meier survival method...
August 30, 2016: American Journal of Ophthalmology
Aytul Corbacioglu Esmer, Tugba Sarac Sivrikoz, Elif Yilmaz Gulec, Salim Sezer, Ibrahim Kalelioglu, Recep Has, Atil Yuksel
Persistent hyperplastic primary vitreous is a spectrum of congenital ocular abnormalities characterized by leukocoria, microphthalmia, cataracts, extensive intravitreal hemorrhage, persistence of the hyaloid artery, glaucoma, and retinal detachment. It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester. Bilateral hyperechoic lenses and retinal nonattachment were detected in the sonographic examination of the first case, whereas irregular echogenic bands between the lenses and posterior walls of the eyes were prominent in the second case...
October 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Lucía Perucho-González, Federico Sáenz-Francés, Laura Morales-Fernández, José María Martínez-de-la-Casa, Carmen D Méndez-Hernández, Enrique Santos-Bueso, John L Brookes, Julián García-Feijoó
PURPOSE: To determine whether a set of ocular morphometric and biomechanical variables are able to discriminate between healthy volunteers and patients suffering from primary congenital glaucoma (PCG). METHODS: Case-control study in which 66 patients with PCG and 94 age-matched healthy subjects were evaluated using ocular response analyser (ORA) to record corneal biomechanical properties. Topographic corneal variables were obtained using the Pentacam in both groups...
August 29, 2016: Acta Ophthalmologica
Oliver Ristow, Christian Freudlsperger, Moritz Berger, Heidi Bächli, Jürgen Hoffmann, Michael Engel
Regarded singly, both Sturge-Weber syndrome and trigonocephaly are rare congenital disorders. The cardinal features of Sturge-Weber syndrome are facial cutaneous capillary malformation (port-wine stain), leptomeningeal angiomatosis, and glaucoma. Premature closure of the metopic suture results in trigonocephaly. However, to the best of our knowledge, the diagnosis of a combination of both Sturge-Weber syndrome and trigonocephaly has not as yet been reported. This brief clinical study thus presents a patient with the unusual findings of a Sturge-Weber syndrome and simultaneous trigonocephaly induced by premature metopic synostosis...
October 2016: Journal of Craniofacial Surgery
Kazuhiko Takeuchi, Masako Kitano, Hiroshi Sakaida, Sawako Masuda
The objective of this paper was to describe the clinical and otological findings in multiple members of a family with congenital glaucoma, cardiac anomaly, and conductive hearing loss due to ossicular chain anomalies. We performed a retrospective review of the medical charts and otological materials of multiple members of the same family. Congenital glaucoma and hearing loss were inherited by the proband and her daughter, son, and mother, suggesting autosomal dominant inheritance. The son and daughter also showed atrial septal defects...
August 20, 2016: Auris, Nasus, Larynx
Eman M Elhefney, Hossam T Al-Sharkawy, Hanem M Kishk
PURPOSE: To evaluate the efficacy of supra-Tenon capsule implantation of an Ahmed glaucoma valve (AGV) as a measure to decrease the fibrotic potential of the Tenon capsule on bleb formation and its subsequent effect on intraocular pressure (IOP) control in children with refractory glaucoma. SETTING: Mansoura Ophthalmic Centre, Faculty of Medicine, Mansoura University, Egypt. DESIGN: A prospective interventional study. PATIENTS AND METHODS: Twenty-two eyes of 12 children with refractory glaucoma underwent supra-Tenon capsule implantation of AGV...
September 2016: Journal of Glaucoma
Rebecca F Neustein, Beau B Bruce, Allen D Beck
PURPOSE: To report and compare visual and glaucoma outcomes in primary congenital glaucoma (PCG) vs glaucoma following congenital cataract surgery (GFCS). DESIGN: Retrospective, observational, comparative case series. METHODS: Setting: Emory Eye Center, Atlanta, Georgia. STUDY POPULATION: Pediatric glaucoma patients (age 0-18 years) treated at Emory by 1 clinician with ≥2-year follow-up. Glaucoma was defined according to the 9th Consensus Report of the World Glaucoma Association...
October 2016: American Journal of Ophthalmology
Markus H Kuehn, Koren A Lipsett, Marilyn Menotti-Raymond, S Scott Whitmore, Todd E Scheetz, Victor A David, Stephen J O'Brien, Zhongyuan Zhao, Jackie K Jens, Elizabeth M Snella, N Matthew Ellinwood, Gillian J McLellan
[This corrects the article DOI: 10.1371/journal.pone.0154412.].
2016: PloS One
Bushra Rauf, Bushra Irum, Firoz Kabir, Sabika Firasat, Muhammad Asif Naeem, Shaheen N Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, S Amer Riazuddin
Glaucoma is the second leading cause of blindness, affecting ~65 million people worldwide. We identified and ascertained a large cohort of inbred families with multiple individuals manifesting cardinal symptoms of primary congenital glaucoma (PCG) to investigate the etiology of the disease at a molecular level. Ophthalmic examinations, including slit-lamp microscopy and applanation tonometry, were performed to characterize the causal phenotype and confirm that affected individuals fulfilled the diagnostic criteria for PCG...
2016: Human Genome Variation
Luca Buzzonetti, Roberta Ardia, Sergio Petroni, Gianni Petrocelli, Paola Valente, Rosa Parrilla, Giancarlo Iarossi
PURPOSE: The purpose was to evaluate indications and clinical outcomes in paediatric corneal keratoplasty. METHODS: Fifty-four eyes of 43 patients who underwent corneal keratoplasty from the 1(st) of January 2010 through the 31(st) of December 2013 at the Bambino Gesù Children's Hospital in Rome, Italy, were retrospectively evaluated. To assess the effect of age on graft failure rate, the recipient age was considered as a dichotomous variable (≤5 or >5 years) and a 2X2 table was developed, using the chi-square test for testing the statistical significance...
August 3, 2016: Graefe's Archive for Clinical and Experimental Ophthalmology
Sundar Srilekha, Bhavna Rao, Divya M Rao, D Sudha, Sathya Priya Chandrasekar, A J Pandian, N Soumittra, S Sripriya
Gene mapping of inherited ophthalmic diseases such as congenital cataracts, retinal degeneration, glaucoma, age-related macular degeneration, myopia, optic atrophy, and eye malformations has shed more light on the disease pathology, identified targets for research on therapeutics, earlier detection, and treatment options for disease management and patient care. This article details the different approaches to gene identification for both Mendelian and complex eye disorders.
July 2016: Asia-Pacific Journal of Ophthalmology
Lucia Mauri, Steffen Uebe, Heinrich Sticht, Urs Vossmerbaeumer, Nicole Weisschuh, Emanuela Manfredini, Edoardo Maselli, Mariacristina Patrosso, Robert N Weinreb, Silvana Penco, André Reis, Francesca Pasutto
BACKGROUND: Primary congenital glaucoma (PCG) and early onset glaucomas are one of the major causes of children and young adult blindness worldwide. Both autosomal recessive and dominant inheritance have been described with involvement of several genes including CYP1B1, FOXC1, PITX2, MYOC and PAX6. However, mutations in these genes explain only a small fraction of cases suggesting the presence of further candidate genes. METHODS: To elucidate further genetic causes of these conditions whole exome sequencing (WES) was performed in an Italian patient, diagnosed with PCG and retinal detachment, and his unaffected parents...
2016: Orphanet Journal of Rare Diseases
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"