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Editors Selection IGR 9-4
Genetics
Comment by Wallace Alward on:
11744 Molecular basis of Peters anomaly in Saudi Arabia, Edward D; Al Rajhi A; Lewis RA et al., Ophthalmic Genetics, 2004; 25: 257-270
Peters anomaly is a rare corneal defect that been associated with mutations in a number of genes involved in anterior segment development (CYP1B1, PITX2, FOXC1, PAX6 and FOXE3). The study of Edward et al. (67) looks at 11 patients with Peters anomaly from ten families. Experienced examiners made all of the diagnoses and there was histopathological confirmation of the diagnosis in seven of the 11 patients. All of the genes associated with Peters anomaly were all screened for sequence variations and only mutations in CYP1B1 were identified. CYP1B1 mutations were found in six individuals in five families. Five of the people with CYP1B1 mutations had the same mutation (G61E). There was no identifiable clinical or histopathological difference between those with and those without the CYP1B1 mutations. There was a marked variation in penetrance; individuals who were homozygous for the same mutation could have primary congenital glaucoma, Peters anomaly or be completely normal. CYP1B1 is a major cause of primary congenital glaucoma in Saudi Arabia and may not be as major a cause of Peters anomaly in other populations. An understanding of the genes involved in anterior segment development holds promise for helping to understand the development of the eye.
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