Citation, DOI, disclosures and article data
Citation:
Iqbal S, Murphy A, Megalocornea. Reference article, Radiopaedia.org (Accessed on 28 Mar 2025) https://doi.org/10.53347/rID-86914
Megalocornea is a rare bilateral congenital ocular defect characterized by a corneal diameter of more than 13 mm with the deep anterior chamber and normal intraocular pressure 1-3.
Megalcornea is associated with Chordin-like 1 (CHRDL1) gene mutation 1,2. It is associated with multiple anomalies few of them includes:
Clinical presentation of megalcornea is varied. A few features include premature cataract formation at an early age of 30 years, blurring of vision, glaucoma, juvenile lens dislocation, and corneal dystrophy, iris atrophy retinal detachment.
The differential of megalcornea includes:
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1. Majid Moshirfar, Jordan Hastings, Yasmyne Ronquillo. Megalocornea. (2020) Pubmed
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2. Alice E. Davidson, Sek-Shir Cheong, Pirro G. Hysi, Cristina Venturini, Vincent Plagnol, Jonathan B. Ruddle, Hala Ali, Nicole Carnt, Jessica C. Gardner, Hala Hassan, Else Gade, Lisa Kearns, Anne Marie Jelsig, Marie Restori, Tom R. Webb, David Laws, Michael Cosgrove, Jens M. Hertz, Isabelle Russell-Eggitt, Daniela T. Pilz, Christopher J. Hammond, Stephen J. Tuft, Alison J. Hardcastle. Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness. (2014) PLOS ONE. 9 (8): e104163. doi:10.1371/journal.pone.0104163
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3. Pfirrmann, Thorsten, Emmerich, Denise, Ruokonen, Peter, Quandt, Dagmar, Buchen, Renate, Fischer-Zirnsak, Björn, Hecht, Jochen, Krawitz, Peter, Meyer, Peter, Klopocki, Eva, Stricker, Sigmar, Lausch, Ekkehart, Seliger, Barbara, Hollemann, Thomas, Reinhard, Thomas, Auw-Haedrich, Claudia, Zabel, Bernhard, Hoffmann, Katrin, Villavicencio-Lorini, Pablo. Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model. (2015) Human Molecular Genetics. 24 (11): 3119. doi:10.1093/hmg/ddv063
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