A 6-month-old boy presented with a congenital eye movement disorder consistent with congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Mutational analysis confirmed the most common mutation in the CFEOM1 gene KIF21A. In addition to the typical findings in CFEOM1, distinctive conjunctival changes and small bilateral optic disc colobomata were also noted. It is suggested that optic disc colobomata represent a new association of CFEOM1.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2671641 | PMC |
| http://dx.doi.org/10.1080/13816810802697473 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A case report of macular coloboma as an ocular clinical feature in Sturge Weber Syndrome.
Int J Surg Case Rep
December 2024
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.
Myriad of congenital excavated optic disc anomalies in achondroplasia.
BMJ Case Rep
November 2024
Ophthalmology, Armed Forces Medical College, Pune, India.
Article Synopsis
- - Achondroplasia is a genetic disorder linked to issues in the formation of endochondral bone, which can lead to various physical abnormalities.
- - The case presented includes unique eye features in a patient, such as telecanthus, esotropia, and bilateral microphthalmos.
- - Remarkably, the patient also showed a rare combination of optic disc anomalies and retroorbital cysts, marking the first time such findings have been documented in achondroplasia.
Visual Acuity and Refractive Status in Congenital Macular Coloboma.
Curr Eye Res
November 2024
Department of Ophthalmology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, People's Republic of China.
Purpose: We analysed the refractive state and the factors that influence the best-corrected visual acuity (BCVA) in congenital macular coloboma (CMC) to provide new ideas for improving and predicting the vision of patients with CMC.
Methods: We reported three patients and reviewed 26 cases of CMC reported in the China National Knowledge Infrastructure (CNKI) database. We measured the BCVA, spherical equivalent refraction (SER), the macular coloboma's diameter and area, and the distance from the macular coloboma's nasal edge to the optic disc's temporal edge (DISTANCE).
Optic disc coloboma - A hidden masquerader.
Arq Bras Oftalmol
September 2024
Department of Ophthalmology, Mahatma Gandhi Medical College and Research Institute, Sri Balaji Vidyapeeth, Pillayarkuppam, Pondicherry India.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!