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The Evaluation of Ocular Posterior Segment Findings in 5527 Term Infants Using Smartphone-Based Fundus Imaging.
J Ophthalmol
December 2024
Department of Ophthalmology, Ankara Bilkent City Hospital, Ankara, Turkey.
To evaluate the two-year fundus examination outcomes of term infants undergoing eye screening. Retrospective review of our data of term infants at a tertiary care center (Ankara Bilkent City Hospital) from October 2021 to October 2023. All screened infants underwent red reflex test and dilated posterior segment examination.
View Article and Find Full Text PDFA case report of macular coloboma as an ocular clinical feature in Sturge Weber Syndrome.
Int J Surg Case Rep
January 2025
King Khaled Eye Specialist Hospital, KKESH, Riyadh, Saudi Arabia.
Introduction And Importance: Sturge Weber Syndrome (SWS) is a congenital neurocutaneous disorder that affects several organs. Abnormal ocular findings are typically on the same side as the SWS. These changes can affect various parts of the eye, including the eyelid, front chamber, cornea, choroid, and retina.
View Article and Find Full Text PDFLoss of Cdc42 causes abnormal optic cup morphogenesis and microphthalmia in mouse.
Front Cell Neurosci
November 2024
Department of Ophthalmology and Visual Sciences, Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, United States.
Congenital ocular malformations originate from defective morphogenesis during early eye development and cause 25% of childhood blindness. Formation of the eye is a multi-step, dynamic process; it involves evagination of the optic vesicle, followed by distal and ventral invagination, leading to the formation of a two-layered optic cup with a transient optic fissure. These tissue folding events require extensive changes in cell shape and tissue growth mediated by cytoskeleton mechanics and intercellular adhesion.
View Article and Find Full Text PDFA Novel De Novo Missense Variant in Netrin-1 (NTN1) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and Polydactyly.
Clin Genet
December 2024
Development, Ageing and Disease, UCL Institute of Ophthalmology, London, UK.
Microphthalmia, anophthalmia and coloboma (MAC) comprise a highly heterogeneous spectrum of congenital ocular malformations with an estimated incidence of 1 in 5000 to 1 in 30 000 live births. Although there is likely to be a genetic component in the majority of cases, many remain without a molecular diagnosis. Netrin-1 was previously identified as a mediator of optic fissure closure from transcriptome analyses of chick and zebrafish and was shown to cause ocular coloboma when knocked out in both mouse and zebrafish.
View Article and Find Full Text PDFOcular findings in Baraitser-Winter syndrome with a de novo mutation in the ACTG1 gene: a case report.
BMC Ophthalmol
December 2024
Department of Ophthalmology, Daegu catholic university school of medicine, Daegu, Korea.
Background: Baraitser-Winter syndrome (BWS) is rare, and no previous reports have described the visual course of patients with this condition. Herein, we report the long-term visual outcomes and ocular features of a 6-year-old patient diagnosed with BWS.
Case Presentation: A 6-year-old female patient visited our clinic complaining of low vision.
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