PerspectiveAxenfeld-Rieger syndrome in the age of molecular genetics☆
Section snippets
Chromosome 4q25 (gene = paired-like homeodomain transcription factor 2; PITX2) (MIM 601542)
Rieger syndrome has been reported in patients with a variety of chromosomal translocations and deletions. The most common site of chromosomal abnormality has been the long arm of chromosome 4 (4q).10 Murray and associates10 studied three small families with autosomal dominant Rieger syndrome (with ocular and systemic features). They performed linkage analysis in the interval on chromosome 4q where translocations were most common and found evidence of genetic linkage to this interval.
Axenfeld-rieger syndrome (MIM 180500)
: Posterior embryotoxon is a term used to describe a prominent and anteriorly displaced Schwalbe line. The posterior embryotoxon is visible at the slit lamp and is easily seen on gonioscopy. Some degree of posterior embryotoxon has been described in up to 15% of the population.25 However, the posterior embryotoxon that is commonly found in the normal population is typically subtle, while that seen in Axenfeld-Rieger syndrome can be dramatic. Although posterior embryotoxon is found in most
Discussion
This article has attempted to summarize what is known about the anterior segment dysgenesis disorders that make up Axenfeld-Rieger syndrome and related phenotypes. While these disorders can be split into small groups because of minor differences, it seems more logical to combine them under the umbrella of Axenfeld-Rieger syndrome. In a thorough review of Axenfeld-Rieger syndrome in 1983, Shields stated, “The overlapping of ocular and nonocular defects in these patients prevented
Acknowledgements
I am grateful to Jeffrey C. Murray, MD, Darryl Y. Nishimura, PhD, Elena Semina, PhD, Val C. Sheffield, MD, PhD, Edwin M. Stone, MD, PhD, and Ruth E. Swiderski, PhD, for allowing me to be a part of the exciting studies on molecular genetics that are taking place in their laboratories. I am also in debt to my good friend Hansjoerg E. Kolder, MD, PhD, for his careful translation of the original German literature.
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This study was supported in part by grants RO1EY10564 and RO1EY12384 from the National Institutes of Health, Bethesda, Maryland; The Glaucoma Research Foundation, San Francisco, California; and an unrestricted grant from Research to Prevent Blindness, Inc, New York, New York.