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MJ Gallagher, AJ Churchill, CM Kirkness; Ptosis And Anterior Segment Dysgenesis- A New Clinical Entity . Invest. Ophthalmol. Vis. Sci. 2002;43(13):2403.
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Purpose:To describe the clinical features in a Scottish family with ptosis and anterior segment dysgenesis. Methods:Eighteen individuals in a three generation pedigree were examined. Anterior segment and fundus photographs, automated perimetry and intraocular pressure measurements were performed. Specular microscopy and electrodiagnostic studies were performed on a subset of the family. Results:Six members of the family were affected. Four female and two male. Vertical transmission is through an affected female,thus the mode of transmission would suggest autosomal dominant or mitochondrial inheritance. The phenotypic spectrum comprised the presence of ptosis in four affected members,variable corneal stromal opacities,progressive corneal epitheliopathy,anterior iris stromal hypoplasia, correctopia, and optic nerve anomalies. Conclusion:We describe a new association of ptosis and anterior segment anomalies within a single Scottish family. Anterior segment anomalies are a feature of several genetically distinct entities involving mutations in the PAX6, FOXC1, FOXE3, and PITX2 genes. Ptosis has been associated with mutations in the FOXC2 and FOXL2 genes.We describe the genetics to determine the underlying molecular basis of this novel phenotype.
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