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PMID:29356367
Autor:Grehn F
Endereço:Department of Ophthalmology, University Hospitals Wuerzburg, Wuerzburg, Germany.
Título:New horizons in congenital glaucoma surgery.
Fonte:Acta Ophthalmol; 96(1):7-8, 2018 02.
ISSN:1755-3768
País de publicação:England
Idioma:eng
Tipo de publicação: EDITORIAL; COMMENT


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PMID:27777502
Autor:Reis LM; Tyler RC; Weh E; Hendee KE; Kariminejad A; Abdul-Rahman O; Ben-Omran T; Manning MA; Yesilyurt A; McCarty CA; Kitchner TE; Costakos D; Semina EV
Endereço:Department of Pediatrics and Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI.
Título:Analysis of in pediatric and adult glaucoma and other ocular phenotypes.
Fonte:Mol Vis; 22:1229-1238, 2016.
ISSN:1090-0535
País de publicação:United States
Idioma:eng
Resumo:PURPOSE: The gene encodes an enzyme that is a member of the cytochrome P450 superfamily. Mutations in 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 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. RESULTS: Recessive pathogenic variants in were identified in two PCG pedigrees, three cases with CG and ASD, and two families with CG and other ocular defects, such as sclerocornea in one patient and microphthalmia in another individual; neither sclerocornea nor microphthalmia has been previously associated with . Most of the identified causative mutations are new occurrences of previously reported pathogenic alleles with two novel variants identified: a c.1325delC, p.(Pro442Glnfs*15) frameshift allele in a family with PCG and a c.157G>A, p.(Gly53Ser) variant identified in a proband with CG, Peters anomaly, and microphthalmia. Analysis of the family history in the -positive families revealed POAG in confirmed or presumed heterozygous relatives in one family with PCG and two families with ASD/CG; POAG was associated with the c.1064_1076del, p.(Arg355Hisfs*69) allele in two of these pedigrees. Screening of an unrelated POAG cohort identified the same c.1064_1076del heterozygous allele in one individual with sporadic POAG but not in age- and ethnicity-matched POAG-negative individuals. Overall, there was no significant enrichment for mutant alleles in within the POAG cases compared to the controls. CONCLUSIONS: In summary, these data expand the mutational and phenotypic spectra of to include two novel alleles and additional developmental ocular phenotypes. The contribution of to POAG is less clear, but loss-of-function variants in , especially c.1064_1076del, p.(Arg355Hisfs*69), may be associated with an increased risk for POAG.
Tipo de publicação: JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
Nome de substância:EC 1.14.14.1 (CYP1B1 protein, human); EC 1.14.14.1 (Cytochrome P-450 CYP1B1)


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PMID:29217026
Autor:Al Nosair G; Khandekar R; Al-Shamrani M; Edward DP
Endereço:King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Título:Ciliary body location in eyes with and without primary congenital glaucoma.
Fonte:Can J Ophthalmol; 52(6):578-582, 2017 Dec.
ISSN:1715-3360
País de publicação:England
Idioma:eng
Resumo:OBJECTIVE: To compare the location of ciliary body (CB) in children with and without primary congenital glaucoma (PCG). METHODS: In this cross-sectional study, we enrolled Saudi children who were less than 5 years old. CB distance (CBD) was measured and compared in eyes with PCG (PCG group) and without PCG (control group). CBD was measured with a caliper and defined as the distance between the edge of the corneoscleral limbus and the anterior edge of CB as delineated by transillumination. The difference in the CBD between groups was correlated with the axial length, corneal thickness, and corneal diameter. RESULTS: CBD was measured in 15 eyes in the PCG and control groups. The mean CBD (1.6 ± 0.4 mm) in the PCG group was significantly greater than that in the control group (1.3 ± 0.3 mm) (p < 0.001). The mean difference in the CBD of 2 groups was 0.33 mm (95% CI 0.15-0.54). In PCG eyes, the CBD was farthest in the superior quadrant (1.7 mm) followed by inferior (1.6 mm), temporal (1.6 mm), and nasal (1.5 mm) quadrants. The variability in CBD between quadrants in PCG eyes was greater than that in the control group. CBD in the PCG group showed a significant correlation with increasing axial length (p = 0.05), corneal thickness (p < 0.001), and corneal diameter (p = 0.0002). CONCLUSIONS: The CBD from the limbus was greater in PCG eyes compared to the controls and varied significantly in different quadrants. The knowledge regarding the greater CBD and its variability in PCG eyes could enable better planning of surgical treatment in congenital glaucoma.
Tipo de publicação: JOURNAL ARTICLE


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PMID:28624326
Autor:Shakrawal J; Bali S; Sidhu T; Verma S; Sihota R; Dada T
Endereço:Glaucoma Facility, Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
Título:Randomized Trial on Illuminated-Microcatheter Circumferential Trabeculotomy Versus Conventional Trabeculotomy in Congenital Glaucoma.
Fonte:Am J Ophthalmol; 180:158-164, 2017 Aug.
ISSN:1879-1891
País de publicação:United States
Idioma:eng
Resumo:PURPOSE: To compare 1-year outcomes of illuminated microcatheter-assisted circumferential trabeculotomy (IMCT) vs conventional partial trabeculotomy (CPT) for primary congenital glaucoma (PCG). DESIGN: Randomized clinical trial. METHODS: Forty eyes of 31 patients with unilateral or bilateral primary congenital glaucoma aged less than 2 years were randomized to undergo IMCT (20 eyes) or CPT (20 eyes). Primary outcome measure was intraocular pressure (IOP) reduction. The success criterion was defined as IOP ≤ 12 mm Hg without and with antiglaucoma medications (absolute success and qualified success, respectively). RESULTS: The mean age of our study population was 8.35 ± 1.2 months. The mean preoperative IOP was 24.70 ± 3.90 mm Hg in the IMCT group and 24.60 ± 3.31 mm Hg in the CPT group. Both groups were comparable with respect to preoperative IOP, corneal clarity, corneal diameter, vertical cup-to-disc ratio, and refractive error. In the IMCT group, 360-degree cannulation was achieved in 80% (16/20) of eyes. For the IMCT group and CPT groups, respectively, the absolute success rates were 80% (16/20) and 60% (12/20) (P < .001) and qualified success rates were 90% (18/20) and 70% (14/20) (P < .001). Both procedures produced a statistically significant reduction in IOP, and eyes undergoing IMCT achieved a lower IOP than CPT group eyes at 12 months follow-up (9.5 ± 2.4 mm Hg and 11.7 ± 2.1 mm Hg, respectively, P < .001). CONCLUSION: In primary congential glaucoma, illuminated microcatheter-assisted 360-degree circumferential trabeculotomy performed better than conventional partial trabeculotomy at 1 year follow-up and resulted in significantly lower IOP measurements.
Tipo de publicação: COMPARATIVE STUDY; JOURNAL ARTICLE; RANDOMIZED CONTROLLED TRIAL


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PMID:28246422
Autor:Finnie G
Endereço:Ontario Veterinary College, University of Guelph, 50 Stone Road East, Guelph, Ontario N1G 2W1.
Título:Severe unilateral buphthalmos in a 4-month-old kitten.
Fonte:Can Vet J; 58(3):299-301, 2017 Mar.
ISSN:0008-5286
País de publicação:Canada
Idioma:eng
Resumo:A 4-month-old kitten was presented with unilateral buphthalmos. The eye was blind with no menace response, but intraocular pressure was normal. A trans-palpebral enucleation was performed on the affected eye and the globe was submitted for histology. There was a suppurative, lympho-plasmacytic panophthalmitis with inflammatory exudate in the iridocorneal angle.
Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE


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PMID:28207433
Autor:Yoshikawa H; Sotozono C; Ikeda Y; Mori K; Ueno M; Kinoshita S
Endereço:Departments of *Ophthalmology; and †Frontier Medical Science and Technology for Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Título:Long-Term Clinical Course in Eyes With Peters Anomaly.
Fonte:Cornea; 36(4):448-451, 2017 Apr.
ISSN:1536-4798
País de publicação:United States
Idioma:eng
Resumo:PURPOSE: Peters anomaly (PA) is known to be a primary cause of congenital corneal opacity. The aim of this study is to report the long-term clinical course and visual achievement of patients with PA who did not undergo keratoplasty. METHODS: This retrospective study involved 15 eyes of 9 infants with PA less than 5 months of age at initial presentation at the Kyoto Prefectural University of Medicine who were followed up without keratoplasty for more than 6 years after presentation. In each subject, visual acuity, intraocular pressure (IOP), presence of congenital glaucoma, and change of corneal opacity were retrospectively investigated. RESULTS: At initial presentation, the mean patient age was 2.3 months (SD: 1.3; range: 0-4 mo), and the mean follow-up period was 7.9 years (SD: 1.8; range: 6.5-11.3 yrs). Of the 9 patients, 6 were affected bilaterally. Thirteen eyes of 7 patients were found to have glaucoma. Over the follow-up period, corneal opacity gradually decreased in 4 eyes, 1 eye each of 2 unilateral patients without glaucoma and both eyes of 1 bilaterally affected patient with good IOP control during the follow-up period. Visual acuity in the unilateral case with intensive amblyopia treatment gradually increased along with decreasing corneal opacity. CONCLUSIONS: The findings of this study show that a natural decrease of corneal opacity can occur in eyes with PA. In cases of unilateral PA without IOP elevation and no enlargement of the corneal diameter, strict amblyopia treatment is vital to obtain a favorable visual prognosis.
Tipo de publicação: JOURNAL ARTICLE


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PMID:28146442
Autor:Nash DL; Crouch ER; Crouch ER
Endereço:*Mayo Clinic, Rochester, MN†Eastern Virginia Medical School, Norfolk, VA.
Título:Comparison of EX-PRESS Shunt and Trabeculectomy With Mitomycin-C in Congenital and Juvenile Glaucoma.
Fonte:J Glaucoma; 26(2):e58-e63, 2017 Feb.
ISSN:1536-481X
País de publicação:United States
Idioma:eng
Resumo:PURPOSE: To compare efficacy and safety of EX-PRESS mini glaucoma shunt (Alcon) and trabeculectomy with mitomycin-C (MMC) in the management of pediatric glaucoma. METHODS: The authors retrospectively reviewed patients from a single pediatric ophthalmology practice with either congenital or juvenile glaucoma who underwent surgical treatment with either trabeculectomy or EX-PRESS shunt insertion with MMC. Postoperative intraocular pressure at 6, 18, and 36 months, medication requirements, visual acuities, postoperative interventions, complications, and noncompliance with medications or follow-up was reviewed. RESULTS: A total of 42 cases of glaucoma with either trabeculectomy or EX-PRESS shunt were identified for review (n trabeculectomy=25, n EX-PRESS=17). At 6 months, 62.5% of trabeculectomies and 94.1% of EX-PRESS shunts met criteria for success (P=0.0281). At 18 months, 38.1% of trabeculectomies and 81.3% of EX-PRESS shunts met criteria for success (P=0.0178). At 36 months, trabeculectomies had a success rate of 33.3% versus 66.7% for EX-PRESS shunts (P=0.321). The average decrease in medications postoperatively was 0.375 and 1.63 for trabeculectomy and EX-PRESS shunt, respectively (P=0.06). Preoperative visual acuities compared with postoperative best-corrected visual acuities before additional surgery demonstrated a slight average worsening of 0.11 logMAR in trabeculectomy patients and an average improvement of 0.56 logMAR in EX-PRESS shunt patients (P=0.0037). CONCLUSIONS: In this review, patients with pediatric glaucoma managed with EX-PRESS shunt with MMC compared with trabeculectomy with MMC appear to have better intraocular pressure control, better visual acuities, and fewer complications and reoperations.
Tipo de publicação: COMPARATIVE STUDY; JOURNAL ARTICLE
Nome de substância:0 (Alkylating Agents); 50SG953SK6 (Mitomycin)


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PMID:27755350
Autor:Chiang MY; Camuglia JE; Khaw PT
Endereço:*Queensland Eye Institute †Lady Cilento Children's Hospital, Brisbane, Qld, Australia ‡NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust & UCL Institute of Ophthalmology, London, UK.
Título:A Novel Method of Extending Glaucoma Drainage Tube: "Tube-in-Tube" Technique.
Fonte:J Glaucoma; 26(2):93-95, 2017 Feb.
ISSN:1536-481X
País de publicação:United States
Idioma:eng
Resumo:PURPOSE: To describe a new and simple technique of glaucoma tube extension that carries several advantages over previously described techniques. PATIENTS AND METHODS: A retrospective noncomparative case series of 3 patients (1 adult and 2 pediatric cases) with glaucoma tube retraction managed by the "tube-in-tube" technique. The follow-up duration ranges from 1 month to 3 years. RESULTS: Adequate tube position and length were seen in all cases throughout the follow-up period. No tube migration was seen. The intraocular pressures were significantly reduced and maintained in all cases. There was no visual loss as a result of the procedure. CONCLUSIONS: This new "tube-in-tube" glaucoma drainage device tube extension technique is safe and simple to perform, and has many advantages over previously reported techniques. It can be used in both the adult and pediatric glaucoma population, and is not limited to the type of drainage implants.
Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE


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PMID:27661987
Autor:Benson MD; Jivraj I; Damji KF; Solarte CE
Endereço:Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, AB, Canada.
Título:Congenital Glaucoma and CHARGE Syndrome: A Case Report.
Fonte:J Glaucoma; 26(2):e84-e86, 2017 Feb.
ISSN:1536-481X
País de publicação:United States
Idioma:eng
Resumo: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. RESULTS: Examination under anesthesia confirmed the above findings as well as bilateral abnormal angles with an anterior iris insertion at the level of the posterior trabecular meshwork, prominent iris vasculature and stromal strands, and nonvisible scleral spur and ciliary body bands. Trabeculotomy and trabeculectomy were performed in the left eye with a poor outcome. CHARGE syndrome is a complex neurocristopathy, and we propose that the abnormal angle findings and associated asymmetric glaucoma in our patient share a common mechanism of neural crest cell dysfunction. CONCLUSIONS: CHARGE syndrome can be associated with congenital glaucoma and we emphasize the importance of a thorough ophthalmic examination to detect glaucoma with surgical management as deemed appropriate.
Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE
Nome de substância:0 (Antihypertensive Agents)


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PMID:27783089
Autor:Fu GL; Alexander JL; Saeedi OJ
Título:Persistent Corneal Edema Associated With Subconjunctival 5-fluorouracil in an Infant With Primary Congenital Glaucoma.
Fonte:J Pediatr Ophthalmol Strabismus; 53:e54-e57, 2016 Oct 22.
ISSN:1938-2405
País de publicação:United States
Idioma:eng
Resumo:A 3-month-old boy with primary congenital glaucoma developed a transient corneal endothelial opacity after needle bleb revision with adjunctive 5-fluorouracil. This case presents a rare toxicity that, although transient, is concerning due to the potential of amblyopia. The authors review prior cases of corneal opacity associated with 5-fluorouracil. [J Pediatr Ophthalmol Strabismus. 2016;53:e54-e57.].
Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE
Nome de substância:0 (Antimetabolites); U3P01618RT (Fluorouracil)



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