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

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dc.contributor.authorShah, Bhavin M
dc.contributor.authorDada, Tanuj
dc.contributor.authorPanda, Anita
dc.contributor.authorTanwar, Mukesh
dc.contributor.authorBhartiya, Shibal
dc.contributor.authorDada, Rima
dc.date.accessioned2015-01-29T09:19:07Z
dc.date.available2015-01-29T09:19:07Z
dc.date.issued2014-03
dc.description.abstractis 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.en_US
dc.identifier.citationShah Bhavin M, Dada Tanuj, Panda Anita, Tanwar Mukesh, Bhartiya Shibal, Dada Rima. Novel occurrence of Axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. Indian Journal of Ophthalmology. 2014 Mar ; 62 (3): 358-360.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/155574
dc.language.isoenen_US
dc.source.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4061684/en_US
dc.subjectAxenfeld-Rieger Syndromeen_US
dc.subjectanterior segment dysgenesisen_US
dc.subjectblepharophimosis ptosis epicanthus inversus syndromeen_US
dc.subjectglaucomaen_US
dc.titleNovel occurrence of Axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome.en_US
dc.typeArticleen_US
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