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Anne E. Christensen Mellgren, Torunn Fiskerstrand, Per M. Knappskog, Helge Boman, Eyvind Rødahl; Ectopia Lentis Et Pupillae: Phenotypic Appearance Of A Deletion Mutation In The ADAMTSL4 Gene. Invest. Ophthalmol. Vis. Sci. 2011;52(14):60.
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© ARVO (1962-2015); The Authors (2016-present)
In five Norwegian families with ectopia lentis et pupillae we have recently identified a novel 20 bp deletion in the ADAMTSL4 gene. Here we report an unrelated family with ectopia lentis et pupillae.
One affected individual and 2 first degree relatives underwent ophthalmic and general medical examination. Molecular genetic studies included DNA sequencing and SNP marker analyses.
Ocular signs in the affected individual were increased corneal thickness and astigmatism and displacement of the pupil and lens. No cardiac or metabolic abnormalities known to be associated with ectopia lentis were detected. DNA sequencing revealed a mutation in ADAMTSL4, c.767_786del20. Data from haplotype mapping of the affected individual and six family members were compared with previous haplotype mapping of the Norwegian families to demonstrate ancient relationship.
Ectopia lentis et pupillae is associated with a number of malformations mainly in the anterior segment of the eye. The combination of ectopic lens and pupil may seem to be more common in Norwegian families than in families reported from other countries in Europe. The causative mutation, which is the first to be described in ectopia lentis et pupillae, is disrupting the same gene function previously shown to cause isolated ectopia lentis. The haplotype mapping of the families we have studied, indicated that the mutation was ancient (4000 years). Corresponding to this assumption, the mutation has since been described from several other European countries.
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