Mutations in the chromatin regulator gene BRPF1 were recently associated with the Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis (IDDDFP). Up till now, clinical data of 22 patients are reported. Besides intellectual disability (ID), ptosis and blepharophimosis are frequent findings, with refraction problems, amblyopia and strabism as other reported ophthalmological features.
View Article and Find Full Text PDFJ Cataract Refract Surg
August 2015
Purpose: To evaluate long-term follow-up results of pediatric cataract surgery using the bag-in-the-lens (BIL) intraocular lens (IOL) implantation technique.
Setting: Antwerp University Hospital, Edegem, Antwerp, Belgium.
Design: Prospective case series.
J Cataract Refract Surg
January 2011
Unlabelled: Management of the posterior capsule significantly affects the outcome of pediatric cataract surgery. Posterior capsule opacification (PCO) is rapid and virtually inevitable in very young children when adult-style cataract surgery is performed and the posterior capsule is left intact. In eyes with pediatric cataract, primary posterior capsulotomy and vitrectomy are considered routine surgical steps, especially in younger children.
View Article and Find Full Text PDFDominant intermediate Charcot-Marie-Tooth neuropathy type B is caused by mutations in dynamin 2. We studied the clinical, haematological, electrophysiological and sural nerve biopsy findings in 34 patients belonging to six unrelated dominant intermediate Charcot-Marie-Tooth neuropathy type B families in whom a dynamin 2 mutation had been identified: Gly358Arg (Spain); Asp551_Glu553del; Lys550fs (North America); Lys558del (Belgium); Lys558Glu (Australia, the Netherlands) and Thr855_Ile856del (Belgium). The Gly358Arg and Thr855_Ile856del mutations were novel, and in contrast to the other Charcot-Marie-Tooth-related mutations in dynamin 2, which are all located in the pleckstrin homology domain, they were situated in the middle domain and proline-rich domain of dynamin 2, respectively.
View Article and Find Full Text PDFJ Cataract Refract Surg
April 2007
Purpose: To study the efficacy, safety, and feasibility of implantation of a bag-in-the-lens intraocular lens (IOL) in children and babies.
Setting: Departments of Ophthalmology, University Hospital, Antwerp, Belgium, and the University Hospital, Ljubljana, Slovenia, and a private ophthalmology practice, Oudenaarde, Belgium.
Methods: Thirty-four eyes of 22 children had implantation of a bag-in-the-lens IOL.