Publications by authors named "V D Pegado"
Article Synopsis
- * A study focused on a seven-generation family identified a significant linkage signal in an 8.5 Mb region on chromosome 14q12, associated with FOXG1 syndrome, where 84% of affected individuals also have strabismus.
- * Next-generation sequencing highlighted a 4 bp deletion in this region as a potential cause of strabismus, disrupting the regulation of a key transcription factor related to brain development, warranting further investigation into its role in both strabismus and FOXG1 syndrome.
An 11-month-old girl presented with dermatitis, boggy arthritis, and keratitis shortly after her hospitalization for bacterial pneumonia. A skin biopsy and genetic testing led to a diagnosis of Blau syndrome. Her symptoms persisted despite a stepwise increase in immune-modulating therapies.
View Article and Find Full Text PDFEye misalignment, called strabismus, is amongst the most common phenotypes observed, occurring in up to 5% of individuals in a studied population. While misalignment is frequently observed in rare complex syndromes, the majority of strabismus cases are non-syndromic. Over the past decade, genes and pathways associated with syndromic forms of strabismus have emerged, but the genes contributing to non-syndromic strabismus remain elusive.
View Article and Find Full Text PDFPurpose: To evaluate the long-term results of medial rectus recessions augmented by botulinum toxin injection for treating infants with large-angle (> 60 prism diopters [PD]) infantile esotropia.
Design: Interventional case series.
Settings: Hospital-based clinical practice.
Purpose: To describe congenital orbital fibrosis as a distinct clinical entity, and highlight its constellation of features.
Material And Methods: Retrospective, noncomparative, interventional case series of 4 patients with congenital orbital fibrosis. One patient underwent exploration of the orbit, release and biopsy of scar tissue.