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, 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.
Bhavin M
BM
Shah
Glaucoma and Cornea Services, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, New Delhi, India.
Tanuj
T
Dada
Anita
A
Panda
Mukesh
M
Tanwar
Shibal
S
Bhartiya
Rima
R
Dada
D000015:Abnormalities, Multiple; D000869:Anterior Eye Segment / Q000002:abnormalities*; D016569:Blepharophimosis / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000175:diagnosis*; D015785:Eye Diseases, Hereditary; D006801:Humans; D008297:Male; D012868:Skin Abnormalities / Q000175:diagnosis*; D014564:Urogenital Abnormalities; D055815:Young Adult