title: Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge.
abstract: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disease. It is clinically characterized by four major features; blepharophimosis, ptosis, epicanthus inversus, and telecanthus. We report a case of a 1-year-old female with BPES with unilateral anterior persistent fetal vasculature (PFV). On examination, she was found to have all the clinical features of BPES, along with calcified and partially absorbed cataract with elongated ciliary processes in her left eye. B-scan of left eye showed attached retina with no evidence of posterior PFV. Systemic examination was normal. She underwent cataract surgery with primary posterior capsulotomy with intraocular lens implantation under general anesthesia. Literature search did not reveal any previous reports of unilateral anterior PFV and BPES. The clinical features, other associations, and the difficulties in the surgical management of this condition are discussed.
authors.affiliation: Department of Pediatric Ophthalmology and Strabismus, Narayana Nethralaya, Super Specialty Eye Hospital and Post Graduate Institute of Ophthalmology, Bengaluru, Karnataka, India.
authors.forename: Vasudha
authors.initials: V
authors.lastname: Kemmanu
authors.affiliation: Department of Pediatric Ophthalmology and Strabismus, Narayana Nethralaya, Bengaluru, Karnataka, India.
authors.forename: Pragnya
authors.initials: P
authors.lastname: Rathod
authors.affiliation: Department of Pediatric Ophthalmology and Strabismus, Narayana Nethralaya, Bengaluru, Karnataka, India.
authors.forename: Hemant
authors.initials: H
authors.lastname: Anaspure
authors.affiliation: Department of Vitreo Retina Services, Narayana Nethralaya, Bengaluru, Karnataka, India.
authors.forename: Naresh K
authors.initials: NK
authors.lastname: Yadav
mesh_terms: D016569:Blepharophimosis / Q000175:diagnosis / Q000601:surgery*; D005260:Female; D006801:Humans; D007223:Infant; D010547:Persistent Fetal Circulation Syndrome / Q000175:diagnosis / Q000601:surgery*; D064727:Posterior Capsulotomy / Q000379:methods*; D012868:Skin Abnormalities / Q000175:diagnosis / Q000601:surgery*; D014564:Urogenital Abnormalities / Q000175:diagnosis / Q000601:surgery*; D014821:Vitrectomy / Q000379:methods*