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A 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 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.
Unilateral pigmented posterior lenticonus with retinochoroidal coloboma: a case report.
J AAPOS
October 2024
Department of Pediatric Ophthalmology and Strabismus, Sankara Nethralaya, Chennai, Tamil Nadu, India.
Posterior lenticonus is a rare congenital anomaly of the crystalline lens characterized by the conical herniation of the posterior lenticular surface with or without cortex herniation into the anterior vitreous. It is usually unilateral and axial; bilateral cases are usually familial and have syndromic associations. The irregular lenticular surface produces high myopia and irregular astigmatism producing optical distortion and hence deprivation amblyopia.
View Article and Find Full Text PDFReconstruction of an Eyelid Defect Associated with Congenital Coloboma in a 7-Month-Old Male Infant Using an Acellular Dermal Allograft.
Am J Case Rep
February 2024
Department of Ophthalmology, Beijing Children's Hospital Affiliated to Capital Medical University, Beijing, China (mainland).
Article Synopsis
- Congenital eyelid coloboma in children can lead to various complications like keratitis and amblyopia, particularly when over half of the eyelid margin is affected, making repairs difficult.
- A case involving a 7-month-old boy with significant eyelid defects was treated using an Acellular Dermal Allograft (ADA), involving multiple surgical procedures including drainage tube insertion and eyelid reconstruction.
- While the initial results of using ADA were positive, with good postoperative eyelid shape, there is a concern about the gradual appearance of lower eyelid retraction, indicating a need for further research on surgical techniques.
Congenital anomalies of lens shape.
Taiwan J Ophthalmol
December 2023
Cornea Service, The Shantilal Shanghvi Cornea Institute, LV Prasad Eye Institute Hyderabad, India, The Shantilal Shanghvi Eye Institute, Mumbai, Maharashtra, India.
The crystalline lens is an important structure in the eye that starts to develop as early as the 22 day of gestation, with further differentiation that continues after the induction. Congenital anomalies of the lens may involve the size, shape, and position of the lens. They may sometimes be associated with anterior segment dysgenesis or persistence of the tunica vasculosa lentis and hyperplastic vitreous and hyaloid system.
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