Literature DB >> 2043071

Description of X-linked megalocornea with identification of the gene locus.

D A Mackey1, R G Buttery, G M Wise, M J Denton.   

Abstract

We studied the clinical appearance and inheritance in five families with X-linked megalocornea. Affected male subjects had corneal diameters between 13.0 and 16.5 mm. Arcus juvenilis, mosaic corneal dystrophy, and cataracts were found only in adult affected male subjects. No carrier female abnormality was identified. The gene locus for the X-linked form is in the region Xq12-q26. This is near the locus described for Aarskog (facial-digital-genital) syndrome, Xq12-13.

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Year:  1991        PMID： 2043071     DOI： 10.1001/archopht.1991.01080060093033

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


  9 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.  Phacoemulsification in anterior megalophthalmos: rhexis fixation technique for intraocular lens centration.

Authors:  Arun K Jain; Nishant Nawani; Ramandeep Singh
Journal:  Int Ophthalmol       Date:  2013-05-23       Impact factor: 2.031

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.  Biometric and Structural Ocular Manifestations of Anterior Megalophthalmos.

Authors:  Tian-Hui Chen; Ze-Xu Chen; Min Zhang; Jia-Hui Chen; Li-Na Lan; Yongxiang Jiang
Journal:  Front Med (Lausanne)       Date:  2022-05-19

5.  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

6.  X linked ocular albinism in Japanese patients.

Authors:  T Shiono; M Tsunoda; Y Chida; M Nakazawa; M Tamai
Journal:  Br J Ophthalmol       Date:  1995-02       Impact factor: 4.638

7.  Ocular Manifestations of Chordin-like 1 Knockout Mice.

Authors:  Di Chen; Yang Liu; Guanhua Shu; Chinfei Chen; David A Sullivan; Wendy R Kam; Steven Hann; Megan Fowler; Matthew L Warman
Journal:  Cornea       Date:  2020-09       Impact factor: 3.152

Review 8.  Ocular findings and genomics of X-linked recessive disorders: A review.

Authors:  Asima Hassan; Yaser R Mir; Raja A H Kuchay
Journal:  Indian J Ophthalmol       Date:  2022-07       Impact factor: 2.969

Review 9.  The Genetics and the Genomics of Primary Congenital Glaucoma.

Authors:  Raffaella Cascella; Claudia Strafella; Chiara Germani; Giuseppe Novelli; Federico Ricci; Stefania Zampatti; Emiliano Giardina
Journal:  Biomed Res Int       Date:  2015-09-16       Impact factor: 3.411
  9 in total

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