Indian Journal of Ophthalmology

BRIEF COMMUNICATION
Year
: 2014  |  Volume : 62  |  Issue : 3  |  Page : 358--360

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


Bhavin M Shah1, Tanuj Dada1, Anita Panda1, Mukesh Tanwar2, Shibal Bhartiya1, Rima Dada2 
1 Glaucoma and Cornea Services, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, New Delhi, India
2 Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India

Correspondence Address:
Tanuj Dada
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi - 110 029
India

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.


How to cite this article:
Shah BM, Dada T, Panda A, Tanwar M, Bhartiya S, Dada R. Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome.Indian J Ophthalmol 2014;62:358-360


How to cite this URL:
Shah BM, Dada T, Panda A, Tanwar M, Bhartiya S, Dada R. Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. Indian J Ophthalmol [serial online] 2014 [cited 2020 Apr 2 ];62:358-360
Available from: http://www.ijo.in/article.asp?issn=0301-4738;year=2014;volume=62;issue=3;spage=358;epage=360;aulast=Shah;type=0