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Congenital Glaucoma (congenital + glaucoma)
Selected AbstractsIs brimonidine ophthalmic a safe therapy for infants?JOURNAL OF CLINICAL PHARMACY & THERAPEUTICS, Issue 3 2006G. P. Daubert MD Summary Brimonidine is a topical alpha-2 agonist commonly used in the treatment of glaucoma. Brimonidine toxicity resembles that of clonidine overdose and is probably due to both imidazoline and alpha-2 adrenergic receptor effects. We report a case of a 6-week-old infant with congenital glaucoma who developed bradycardia and hypotension following the administration of brimonidine 0·15% ophthalmic solution. There are occasional reports of brimonidine toxicity in the paediatric population but its overall safety profile in children <2 years of age remains uncertain. Brimonidine is not dosed by weight and therefore paediatric patients may be at increased risk for systemic toxicity. It is recommended that the use of this medication be carefully considered in children <2 years of age. Physicians should be aware of its side effect profile because of its general use in the paediatric population. [source] Chromosome 1q deletion and congenital glaucomaPEDIATRICS INTERNATIONAL, Issue 4 2005Nobuhiko Okamoto No abstract is available for this article. [source] 2465: Phenotype/genotype evolution in corneal embryologic malformationsACTA OPHTHALMOLOGICA, Issue 2010KK NISCHAL Purpose To describe the evolution of a clinically useful classification of corneal developmental anomalies which has also allowed more accurate phenotype/genotype correlation. Methods The use of clinical documentation using anterior segment photography, normal ultrasound of the eyeball, and high frequency ultrasound and where available histology of host tissue has allowed detailed phenotypes to be developed . Intraoperative recordings of phenotype have also been noted. Genotyping of specific patterns groupings of corneal developmental anomaly phenotypes. Retrospective analysis of clnical outcome with or without surgical intervention. Results Corneal developmental anomalies are best considered in terms of primary corneal disease and secondary corneal disease. The former includes dystophies ( CHED, PPCD and X-L ECD) , corneal dermoids and isolated sclerocornea ( CNA 1 and 2 ).Secondary corneal disease includes secondary to, iridotrabecular anomalies ( eg congenital glaucoma, aniridia, axenfeld -rieger anomaly), kerato-irido-lenticular dysgenesis ( iridolenticular adhesions( Peters type I), failure of lens to form,separate or move away from the cornea). Conclusion Using this classification prognosis for intervention can be shown to be mor successful in primary corneal developmental anomalies. Also by considering groups of patients with similar disease eg primary aphakia, appropriate genotyping can be done eg FOXE3 analysis for children with primary aphakia . More acccurate phenotype allows better clinical classification and ultimately better genotyping of corneal developmental anomalies [source] 2163: Identification of novel disease gene for primary congenital glaucoma (PCG) through homozygosity mapping and next-generation sequencing strategies in a large consanguineous pedigreeACTA OPHTHALMOLOGICA, Issue 2010H VERDIN Purpose Primary congenital glaucoma (PCG) is caused by developmental anomalies of the trabecular meshwork and the anterior chamber angle resulting in an increased ocular pressure (IOP) and optic nerve damage. In general PCG displays an autosomal recessive inheritance pattern and is genetically heterogeneous. To date, three PCG loci are known, namely GLC3A, GLC3B and GLC3C, and two causal genes have been identified, CYP1B1 located in the GLC3A locus and LTPB2 located at 1.3 MB proximal to the GLC3C locus. The purpose of the current study is to identify the causal disease gene in a large consanguineous family with PCG, originating from Jordany. CYP1B1 mutations and linkage to the LTBP2, GLCB3 and GLCC3 locus were previously excluded. Methods In a first step, DNA from members from the consanguineous family will be genotyped by 250K GeneChip Mapping Affymetrix arrays. Homozygosity mapping will be applied to identify potential disease loci, using a homemade Perl script. Next, microsatellite analysis will be performed in order to confirm findings and to narrow down candidate regions. Subsequently, candidate regions of interest will be captured (Agilent) and sequenced on the Illumina Genome Analyser IIx (GAIIx). Gene and variant prioritization will be done using in-house developed software, followed by segregation analysis and screening in control individuals. At last, a cohort of 30 molecularly unsolved PCG patients will be screened for mutations in the newly identified disease. Conclusion The identification of a new disease gene for PCG may lead to better insights into the molecular pathogenesis of glaucoma, and might uncover novel therapeutic strategies. [source] Boston type I in pediatric patientsACTA OPHTHALMOLOGICA, Issue 2009J AQUAVELLA Purpose To present a retrospective review of keratoprosthetic implantation and retention in patients with congenital corneal opacities. Methods Pediatric patients younger than seven years old, the average age of permanent visual loss from understimulation of the visual cortex, were selected from a single center Boston Type I keratoprosthesis database and categorized by 1) primary diagnosis, 2) short-term visual outcome, and 3) post-operative complications. Results Seventeen patients, with an age range of 41 days up to 6 years, were selected from a database of over one hundred and forty patients. Six had a primary diagnosis of sclerocornea and eleven had Peter's anomaly. Visual outcome after one year improved in fourteen of the patients, with patients who previously could not detect light to subsequently being able to fixate and follow or even read allen cards. The remaining three patients showed no improvement in visual acuity but also no worsening from their baseline condition. In terms of post-operative complications of the optic, two had retroprosthetic membrane formation, and another patient required replacement of the keratoprosthesis due to phthisis and optic melting. From a retinal standpoint, four patients had retinal detachments. There were no cases of choroidal hemorrhaging or hypotony in these patients. Conclusion Based on visual outcome, the Boston Type I keratoprosthesis is a safe and effective procedure for patients with congenital corneal opacities. With great retention, the artificial cornea is a viable option for prevention of amblyopia. Due to comorbidities such as congenital cataracts, congenital glaucoma, and retinal detachments, it is crucial to have glaucoma and vitreo-retinal surgeons on hand when managing and implanting keratoprosthesis in a pediatric population. [source] Decompression retinopathy and possible risk factorsACTA OPHTHALMOLOGICA, Issue 1 2009Murat Sinan Saricaoglu Abstract. Purpose:, To discuss the underlying mechanisms in decompression retinopathy. Methods:, Report of two cases. Results:, Retinal hemorrhages secondary to decompression retinopathy occurred following combined trabeculotomy-trabeculectomy with mitomycine-C (MMC) in one eye of a case of congenital glaucoma and pars plana vitrectomy-lensectomy in a case of vitreous condensation secondary to pars planitis. Both cases were operated under general anesthesia. Postoperative hypotony did not take place in either eye. The same surgical procedure was performed on the other eye of the patient with congenital glaucoma 1 week apart. Postoperative decompression retinopathy was not seen in this eye despite hypotony was recorded. Conclusion:, Valsalva manoeuvre, hypotony and other factors may play a role individually or in combination in the pathogenesis of decompression retinopathy. [source] Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in GypsiesCLINICAL GENETICS, Issue 1 2008P Sivadorai Primary congenital glaucoma (PCG) is a genetically heterogeneous disorder of autosomal recessive inheritance, with mutations in the cytochrome P450 1B1 (CYP1B1) gene detected in an average of ,50% of cases worldwide. The Roma/Gypsies are considered to be a rare example of a single founder CYP1B1 mutation, E387K (identified in the Slovak Roma), accounting for 100% of disease alleles. Contrary to this concept, unusual genetic heterogeneity was revealed in this study of 21 Gypsy PCG patients from Bulgaria and 715 controls from the general Gypsy population. In our small sample of affected subjects, we identified five different CYP1B1 mutations , four known (E229K, R368H, E387K and R390C) and one novel and potentially pathogenic (F445I), which together accounted for ,30% of disease alleles. E387K was rare in both the patient and the control group, indicating that its high frequency in the Slovak Roma is the product of local founder effect not representative of the overall molecular pattern of PCG in the Gypsy population. Data on other Mendelian disorders and on the population genetics of the Gypsies suggest that a true founder mutation is likely to exist and has remained undetected. Our analysis of another candidate gene, MYOC, and the GLC3B and GLC3C loci did not provide support for their involvement. The molecular basis of PCG in the Gypsies is thus unresolved, and diagnostic analyses should be extended beyond the E387K mutation. [source] Myocilin gene implicated in primary congenital glaucomaCLINICAL GENETICS, Issue 4 2005K Kaur Primary congenital glaucoma (PCG) has been associated with CYP1B1 gene (2p21), with a predominantly autosomal recessive mode of inheritance. Our earlier studies attributed CYP1B1 mutations to only 40% of Indian PCG cases. In this study, we included 72 such PCG cases where CYP1B1 mutations were detected in only 12 patients in heterozygous condition, implying involvement of other gene(s). On screening these patients for mutations in myocilin (MYOC), another glaucoma-associated gene, using denaturing high-performance liquid chromatography followed by sequencing, we identified a patient who was double heterozygous at CYP1B1 (c.1103G>A; Arg368His) and MYOC (c.144G>T; Gln48His) loci, suggesting a digenic mode of inheritance of PCG. In addition, we identified the same MYOC mutation, implicated for primary open angle glaucoma, in three additional PCG patients who did not harbor any mutation in CYP1B1. These observations suggest a possible role of MYOC in PCG, which might be mediated via digenic interaction with CYP1B1 and/or an yet unidentified locus associated with the disease. [source] | ||||||||||