Indian Journal of Ophthalmology (Jan 2014)
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome
- Bhavin M Shah,
- Tanuj Dada,
- Anita Panda,
- Mukesh Tanwar,
- Shibal Bhartiya,
- Rima Dada
Affiliations
- Bhavin M Shah
- Tanuj Dada
- Anita Panda
- Mukesh Tanwar
- Shibal Bhartiya
- Rima Dada
- DOI
- https://doi.org/10.4103/0301-4738.121144
- Journal volume & issue
-
Vol. 62,
no. 3
pp. 358 – 360
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.
Keywords
- Clinical profile
- Indian population
- optic neuritis treatment trial
- optic neuritis
- Decompression of the orbit
- diplopia
- orbit
- thyroid exophthalmos
- thyroid ophthalmopathy
- Limbus incision
- subconjunctival incision
- sutureless manual small-incision cataract surgery
- wound construction
- Central retinal vein occlusion
- intravitrealbevacizumab
- intravitrealtriamcinolone acetonide
- macular edema
- Contrast sensitivity
- fixation
- microperimeter
- normative data
- retinal sensitivity
- Optical coherence tomography
- optic disc pit
- retinal detachment
- retinoschisis
- Homocysteine
- retinal vein occlusion
- visual impairment
- Diabetic macular edema
- monocyte chemoattractant protein-1
- soluble intracellular adhesion molecule-1
- vascular endothelial growth factor
- Compressive optic neuropathy
- humphrey visual field
- ischemic optic neuropathy
- multifocal visual evoked potential
- optic neuritis
- Age
- body mass index
- gender
- high density lipoprotein
- intraocular pressure
- lipid profiles
- total cholesterol
- triglyceride
- Capsular tension ring
- cataract
- intraocular lens
- myopia
- phacoemulsification
- posterior capsular opacification
- Ethnicity
- Indian
- macular thickness
- normative
- retinal nerve fiber layer
- Ocular torticollis
- superior oblique palsy
- surgery
- Barriers to follow-up
- pediatric cataract
- visual outcome
- Cataract
- intracameral mydriatic solution
- no preoperative mydriatic
- phacoemulsification
- Disc edema
- neem oil
- putamen
- toxin-induced encephalopathy
- Toxic Optic Neuropathy Secondary to Consumption of Neem Oil
- Absent thumb
- craniofacial defects
- limbal dermoid
- Nager syndrome
- Keratitis
- Rhodotorula sp
- Polymerase chain reaction
- Atypical
- cholesterol granuloma
- orbit
- Capsular block syndrome
- optic neuropathy
- phacoemulsification
- Haptic fracture
- posterior chamber intraocular lens fracture
- spontaneous fracture
- Bacterial conjunctivitis
- conjunctivitis
- gram negative diplococcus
- Neisseria sicca
- netilmicin
- Aspergillosis
- endophthalmitis
- vitrectomy
- voriconazole
- Eyelid retraction
- orbital infection
- orbital neonatal abscess
- neonatal abscess
- Dirofilaria
- intraocular dirofilaria
- worm
- Axenfeld-Rieger Syndrome
- anterior segment dysgenesis
- blepharophimosis ptosis epicanthus inversus syndrome
- glaucoma
