Article Text

Download PDFPDF
Molecular genetic study of Egyptian patients with macular corneal dystrophy
  1. Mohamed F El-Ashry1,2,
  2. Mai M Abd El-Aziz1,3,
  3. Osama Shalaby2,
  4. Shomi S Bhattacharya1
  1. 1Department of Molecular Genetics, Institute of Ophthalmology, London, UK
  2. 2Department of Ophthalmology, Tanta University Hospital, Tanta, Egypt
  3. 3Department of Clinical Pathology, Tanta University Hospital, Tanta, Egypt
  1. Correspondence to Mr M F El-Ashry, Department of Molecular Genetics, Institute of Ophthalmology, 11–43 Bath Street, London EC1V 9EL, UK; elashrymohamed{at}


Aim To identify the underlying genetic defect in Egyptian patients with macular corneal dystrophy (MCD).

Methods A clinical and molecular genetic study was performed on 11 patients from six families with MCD. Clinical diagnosis was confirmed by slit-lamp biomicroscopy and histopathological examination of corneal buttons following keratoplasty. The coding region of the carbohydrate sulfotransferase (CHST6) gene was amplified by polymerase chain reaction (PCR) in all affected subjects. This was followed by direct sequencing and restriction digest analyses. Enzyme-linked immunosorbent assay of antigenic keratan sulfate (KS) in patients' serum was also performed.

Results Six homozygous mutations, of which three are novel, were identified within the coding region of CHST6 in six unrelated MCD families. The barely detectable level of antigenic KS in the serum of the affected individuals indicated that they all have MCD type I, including the subtype IA.

Conclusions This is the first report of a molecular genetic analysis of MCD in the Egyptian population. These data indicate the extensive allelic heterogeneity within CHST6 and further support its essential role in maintaining corneal transparency.

  • Mutation screening
  • candidate genes
  • genetic diseases
  • transparency
  • cornea

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.


  • Funding Special Trustees of Moorfields Eye Hospital.

  • Conflict of interests None.

  • Ethics approval Ethics approval was obtained from the Eye Hospital, Tanta, Egypt.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.