© 2004 BMJ Publishing Group Ltd
LETTER TO JMG
A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2–24.2.
1 Molecular Medicine Unit, University of Leeds, Leeds, UK
2 Department of Ophthalmology, Bradford Royal Infirmary, Bradford, UK
3 Yorkshire Regional Genetics Service, St James’s University Hospital, Leeds, UK
Correspondence to:
Correspondence to:
Professor C Inglehearn
Vision Research Group, Molecular Medicine Unit, Clinical Sciences Building, St James’s University Hospital, Leeds LS9 7TF, UK; c.inglehearn@leeds.ac.uk
Accepted 6 April 2004
Abbreviations: ASD, anterior segment dysgenesis; ASMD, anterior segment mesenchymal dysgenesis; ASOD, anterior segment ocular dysgenesis; ERG, electoretinogram; STR, short tandem repeat; VEP, visual evoked potential
Keywords: foveal hypoplasia; anterior segment dysgenesis; Axenfeld’s anomaly; linkage; 16q23–24
| The first 150 words of the full text of this article appear below. |
The phrase anterior segment dysgenesis (ASD), also sometimes known as anterior segment ocular or mesenchymal dysgenesis (ASOD or ASMD, OMIM #107250), was first used in 1981 by Hittner and colleagues to describe a range of developmental defects in structures at the front of the eye.1 These defects are thought to result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to the cornea, iris, and other components of the anterior chamber during eye development.2,3 Conditions falling within the ASD spectrum include aniridia, posterior embryotoxon, Axenfeld’s anomaly, Reiger’s anomaly/syndrome, Peters’ anomaly, and iridogoniodysgenesis. Aniridia (OMIM #106210) ranges from almost complete absence of the iris, through enlargement and irregularity of the pupil mimicking a coloboma, to small slit-like defects in the anterior layer visible only with a slit lamp. In Axenfeld’s anomaly (OMIM #109120), the Schwalbe’s line is prominent and centrally displaced (posterior embryotoxon) with peripheral
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