Cargando…

Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations

Developmental anomalies of the ocular anterior chamber angle may lead to an incomplete development of the structures that form the conventional aqueous outflow pathway. Thus, disorders that present with such dysfunction tend to be associated with glaucoma. Among them, Axenfeld-Rieger (ARS) malformat...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tanwar, Mukesh, Dada, Tanuj, Dada, Rima
Formato:	Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2010
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2934855/ https://www.ncbi.nlm.nih.gov/pubmed/20827438 http://dx.doi.org/10.1155/2010/212656

Ejemplares similares

Novel occurrence of Axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome
por: Shah, Bhavin M, et al.
Publicado: (2014)

Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients
por: Tanwar, Mukesh, et al.
Publicado: (2009)

Mitochondrial DNA analysis in primary congenital glaucoma
por: Tanwar, Mukesh, et al.
Publicado: (2010)

Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients
por: Tanwar, Mukesh, et al.
Publicado: (2009)

Screening of the LTBP2 gene in a north Indian population with primary congenital glaucoma
por: Mohanty, Kuldeep, et al.
Publicado: (2013)

MYOC and FOXC1 gene analysis in primary congenital glaucoma
por: Tanwar, Mukesh, et al.
Publicado: (2010)

Surgical outcomes of Glaucoma associated with Axenfeld-Rieger syndrome
por: Zepeda, Emily M., et al.
Publicado: (2020)

A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma
por: Micheal, Shazia, et al.
Publicado: (2016)

Unusual presentation in Axenfeld-Rieger syndrome
por: Parikh, Rajul S, et al.
Publicado: (2011)

Ocular hypertension in Axenfeld-Rieger Syndrome
por: Espinosa-Barberi, Glenda, et al.
Publicado: (2020)

OLOGEN(®) implant in the management of glaucoma in an unusual case of Axenfeld–Rieger syndrome
por: Radhakrishnan, O. K., et al.
Publicado: (2014)

Mitochondrial DNA nucleotide changes in primary congenital glaucoma patients
por: Kumar, Manoj, et al.
Publicado: (2013)

Case Report: Congenital Pseudoacorea in an Ocular Axenfeld-Rieger Syndrome: What is it?
por: Alza, Andrés Germán
Publicado: (2023)

Glaucoma drainage device implantation in a pregnant woman with axenfeld–rieger syndrome
por: Ramesh, Prasanna Venkatesh, et al.
Publicado: (2023)

Heterozygous Pitx2 Null Mice Accurately Recapitulate the Ocular Features of Axenfeld-Rieger Syndrome and Congenital Glaucoma
por: Chen, Lisheng, et al.
Publicado: (2016)

Anaesthetic challenges in a patient with Axenfeld Rieger Syndrome
por: Baduni, Neha, et al.
Publicado: (2012)

Magnetic resonance imaging findings in Axenfeld–Rieger syndrome
por: Whitehead, Matthew T, et al.
Publicado: (2013)

A case of Axenfeld–Rieger syndrome with retinal detachment
por: Chakraborty, Debdulal, et al.
Publicado: (2022)

Axenfeld-Rieger syndrome: more than meets the eye
por: Reis, Linda M., et al.
Publicado: (2023)

Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives
por: Michels, Kristi, et al.
Publicado: (2023)

Alternative Genetic Diagnoses in Axenfeld–Rieger Syndrome Spectrum
por: Reis, Linda M., et al.
Publicado: (2023)

PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome
por: Zhao, Cui-Mei, et al.
Publicado: (2015)

Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation
por: Dressler, Simone, et al.
Publicado: (2010)

Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome
por: Fuse, Nobuo, et al.
Publicado: (2007)

Double trouble: Microspherophakia with Axenfeld-Rieger anomaly
por: Shakrawal, Jyoti, et al.
Publicado: (2019)

Molecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma
por: Faiq, Muneeb, et al.
Publicado: (2013)

CYP1B1-mediated Pathobiology of Primary Congenital Glaucoma
por: Faiq, Muneeb A, et al.
Publicado: (2015)

Missed case of Axenfeld-Rieger syndrome: a case report
por: Dhir, L, et al.
Publicado: (2008)

Anomalous Scleral Insertion of Superior Oblique in Axenfeld-Rieger Syndrome
por: Park, Sang Woo, et al.
Publicado: (2009)

Axenfeld-Rieger syndrome associated with severe maxillofacial and skeletal anomalies
por: Gokce, Gokcen, et al.
Publicado: (2015)

Progressive Vision Loss in a Patient With Axenfeld-Rieger Syndrome
por: Khan, Taimoor A, et al.
Publicado: (2022)

Axenfeld-Rieger syndrome in monozygotic twin brothers: Case report
por: Akcay, Betul Ilkay Sezgin, et al.
Publicado: (2022)

Mitochondrial Genome Alterations, Cytochrome C Oxidase Activity, and Oxidative Stress: Implications in Primary Open-angle Glaucoma
por: Mohanty, Kuldeep, et al.
Publicado: (2022)

Case report: Congenital mitral and tricuspid valve insufficiency in a patient with Axenfeld-Rieger syndrome
por: Feng, Jingwei, et al.
Publicado: (2022)

A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome
por: Li, Dandan, et al.
Publicado: (2008)

Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld‐Rieger syndrome
por: Lo Faro, Valeria, et al.
Publicado: (2020)

A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings
por: Yang, Hee Jung, et al.
Publicado: (2015)

Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome
por: Li, Kuanshu, et al.
Publicado: (2017)

Heterogeneity of Axenfeld–Rieger Syndrome: Molecular and Clinical Findings in Chinese Patients
por: Zhang, Youjia, et al.
Publicado: (2021)

Dental and Craniofacial Manifestation of Axenfeld-Rieger Syndrome: A Case Report
por: Badnaware, Sheetal, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_lp4ep93b11eg4q3ddr9b9jqgtr