Publications by authors named "J A Katowitz"
Background: Punctal agenesis (PA) is a rare congenital anomaly that can occur in isolation or as part of an underlying syndrome. The benefit of genetic assessment in individuals with PA and clinical features that should prompt molecular workup has not been systematically studied. The aim of this study was to identify ocular and extraocular features associated with PA and determine its association with an underlying syndrome.
View Article and Find Full Text PDFLacrimal Obstruction in Craniosynostosis: Anatomical and Genetic Risk Factors.
Ophthalmic Plast Reconstr Surg
September 2024
Article Synopsis
- The study aimed to determine if children with craniosynostosis have higher rates of nasolacrimal duct obstruction (NLDO) and to identify potential risk factors.
- A retrospective review was conducted on 767 craniosynostosis patients over 11 years, finding that NLDO occurred in 6.2% of participants, with higher rates in those with genetic or syndromic associations.
- The findings suggest that NLDO is more prevalent in this population compared to the general public, particularly among females and patients with certain genetic variants, highlighting the need for ophthalmic evaluations in craniosynostosis patients.
Background: Punctal atresia or agenesis (PA) is a rare congenital anomaly characterized by the absence or closure of the tear duct puncta, potentially linked to systemic genetic anomalies. The necessity of a genetic workup based solely on the presence of PA remains uncertain. This study investigates a cohort of PA patients, examining the prevalence and types of associated syndromes.
View Article and Find Full Text PDFPurpose: Cryptophthalmos is a rare congenital condition caused by anomalous eyelid development where the eyelid folds do not develop or fail to separate. Cryptophthalmos can be unilateral or bilateral and can occur in isolation or as part of an underlying syndrome. We aim to identify genetic syndromes associated with cryptophthalmos to facilitate genetic diagnosis.
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