Publications by authors named "B L Bohnsack"
Introduction: Due to the recent advent of gene-targeted retinal therapies, the clinical value of high-yield genetic testing for inherited retinal dystrophies (IRDs) has increased considerably. However, diagnostic yield is limited by the reported patient populations in allele frequency databases. This study aimed to determine the effect of race and ethnicity on diagnostic yield in IRDs.
View Article and Find Full Text PDFObjective: To characterize and compare our cohorts of pediatric patients with types I and II Stickler syndrome, with a focus on ophthalmic features.
Design: Retrospective cohort study.
Subjects: Twenty-six patients (22 families) with clinical and genetic diagnoses of type I or II Stickler syndrome.
Background: Keratoconus in children is often more severe and rapidly progressive compared to adults. While Scheimpflug imaging (Pentacam) improves screening, there are no established pediatric guidelines. Due to challenges in diagnosis, we aimed to correlate clinical factors with abnormal imaging results to aid in the development of screening protocols.
View Article and Find Full Text PDFArticle Synopsis
- The study aimed to assess how often patients with glaucoma following cataract surgery (GFCS) needed additional surgeries and their outcomes after treatment.
- A review of medical records revealed that over half of the patients required glaucoma surgery, with those who had unilateral cataracts experiencing worse visual acuity compared to those with bilateral cataracts.
- The findings indicated varying success rates for different surgical techniques, with Baerveldt implants performing the best in terms of long-term survival rates.
A complete understanding of neural crest cell mechanodynamics during ocular development will provide insight into postnatal neural crest cell contributions to ophthalmic abnormalities in adult tissues and inform regenerative strategies toward injury repair. Herein, single-cell RNA sequencing in zebrafish during early eye development revealed keratin intermediate filament genes and as additional factors expressed during anterior segment development. In situ hybridization and immunofluorescence microscopy confirmed and expression in the early neural plate border and migrating cranial neural crest cells.
View Article and Find Full Text PDF