We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Novel occurrence of Axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome.
- Authors
Shah, Bhavin M.; Dada, Tanuj; Panda, Anita; Tanwar, Mukesh; Bhartiya, Shibal; Dada, Rima
- Abstract
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.
- Subjects
AXENFELD-Rieger syndrome; BLEPHAROPTOSIS; EYE muscle abnormalities; GLAUCOMA; TRANSCRIPTION factors
- Publication
Indian Journal of Ophthalmology, 2014, Vol 62, Issue 3, p358
- ISSN
0301-4738
- Publication type
Article
- DOI
10.4103/0301-4738.121144