Novel occurrence of Axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome.
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Date
2014-03
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Abstract
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.
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Keywords
Axenfeld-Rieger Syndrome, anterior segment dysgenesis, blepharophimosis ptosis epicanthus inversus syndrome, glaucoma
Citation
Shah 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.