Literature DB >> 1754164

X-linked megalocornea. Ocular findings and linkage analysis.

F M Meire1, E M Bleeker-Wagemakers, M Oehler, A Gal, J W Delleman.   

Abstract

A family with X-linked megalocornea (XMC) is presented. The most typical ocular features of the disease (cornea globosa, arcus lipoides, mosaic dystrophy of the cornea, pigment dispersion, and cataract) are described and their diagnostic value is discussed by reviewing the literature. Linkage data suggest that the XMC locus maps in the region Xq13-q25, most probably in Xq21-q22.

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Year:  1991        PMID： 1754164     DOI： 10.3109/13816819109029398

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN： 0167-6784


  6 in total

1.  X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.

Authors:  Tom R Webb; Mar Matarin; Jessica C Gardner; Dan Kelberman; Hala Hassan; Wei Ang; Michel Michaelides; Jonathan B Ruddle; Craig E Pennell; Seyhan Yazar; Chiea C Khor; Tin Aung; Mahinda Yogarajah; Anthony G Robson; Graham E Holder; Michael E Cheetham; Elias I Traboulsi; Anthony T Moore; Jane C Sowden; Sanjay M Sisodiya; David A Mackey; Stephen J Tuft; Alison J Hardcastle
Journal:  Am J Hum Genet       Date:  2012-01-26       Impact factor: 11.025

2.  Megalocornea. Clinical and genetic aspects.

Authors:  F M Meire
Journal:  Doc Ophthalmol       Date:  1994       Impact factor: 2.379

3.  X-linked Megalocornea Associated with the Novel CHRDL1 Gene Mutation p.(Pro56Leu*8).

Authors:  Jonathan Han; Jonathan W Young; Ricardo F Frausto; Sherwin J Isenberg; Anthony J Aldave
Journal:  Ophthalmic Genet       Date:  2013-09-27       Impact factor: 1.803

4.  Biometry in X linked megalocornea: pathognomonic findings.

Authors:  F M Meire; J W Delleman
Journal:  Br J Ophthalmol       Date:  1994-10       Impact factor: 4.638

5.  Decentration of a toric intraocular lens implant in a patient with simple megalocornea.

Authors:  Irene C Kuo
Journal:  Am J Ophthalmol Case Rep       Date:  2020-05-30

6.  Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.

Authors:  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
Journal:  PLoS One       Date:  2014-08-05       Impact factor: 3.240
  6 in total

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