Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome

Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus. It has been reported to be associated with other ocular anomalies such as euryblepharon, strabismus, n...

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Bibliographic Details
Main Authors:	Bhavin M Shah, Tanuj Dada, Anita Panda, Mukesh Tanwar, Shibal Bhartiya, Rima Dada
Format:	Article
Language:	English
Published:	Wolters Kluwer Medknow Publications 2014-01-01
Series:	Indian Journal of Ophthalmology
Subjects:	Clinical profile Indian population optic neuritis treatment trial optic neuritis Decompression of the orbit diplopia orbit thyroid exophthalmos thyroid ophthalmopathy Limbus incision subconjunctival incision sutureless manual small-incision cataract surgery wound construction Central retinal vein occlusion intravitrealbevacizumab intravitrealtriamcinolone acetonide macular edema Contrast sensitivity fixation microperimeter normative data retinal sensitivity Optical coherence tomography optic disc pit retinal detachment retinoschisis Homocysteine retinal vein occlusion visual impairment Diabetic macular edema monocyte chemoattractant protein-1 soluble intracellular adhesion molecule-1 vascular endothelial growth factor Compressive optic neuropathy humphrey visual field ischemic optic neuropathy multifocal visual evoked potential Age body mass index gender high density lipoprotein intraocular pressure lipid profiles total cholesterol triglyceride Capsular tension ring cataract intraocular lens myopia phacoemulsification posterior capsular opacification Ethnicity Indian macular thickness normative retinal nerve fiber layer Ocular torticollis superior oblique palsy surgery Barriers to follow-up pediatric cataract visual outcome Cataract intracameral mydriatic solution no preoperative mydriatic Disc edema neem oil putamen toxin-induced encephalopathy Toxic Optic Neuropathy Secondary to Consumption of Neem Oil Absent thumb craniofacial defects limbal dermoid Nager syndrome Keratitis Rhodotorula sp Polymerase chain reaction Atypical cholesterol granuloma Capsular block syndrome optic neuropathy Haptic fracture posterior chamber intraocular lens fracture spontaneous fracture Bacterial conjunctivitis conjunctivitis gram negative diplococcus Neisseria sicca netilmicin Aspergillosis endophthalmitis vitrectomy voriconazole Eyelid retraction orbital infection orbital neonatal abscess neonatal abscess Dirofilaria intraocular dirofilaria worm Axenfeld-Rieger Syndrome anterior segment dysgenesis blepharophimosis ptosis epicanthus inversus syndrome glaucoma
Online Access:	http://www.ijo.in/article.asp?issn=0301-4738;year=2014;volume=62;issue=3;spage=358;epage=360;aulast=Shah

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Summary:	Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus. It has been reported to be associated with other ocular anomalies such as euryblepharon, strabismus, nystagmus, amblyopia, microphthalmos, lacrimal drainage apparatus abnormality, extra ocular muscle abnormalities, microcornea, trabecular dysgenesis, optic nerve hypoplasias, and colobomas of the optic disk. We describe a case of BPES with Axenfeld-Rieger syndrome, a neurocristopathy characterized by maldevelopment of the anterior segment with predisposition to development of glaucoma. Interestingly, both syndromes are caused by mutations in the same class of genes, namely the winged-helix/forked transcription factors (FOX) involved in a variety of developmental processes.
ISSN:	0301-4738 1998-3689

Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome

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