December 2002
Volume 43, Issue 13
ARVO Annual Meeting Abstract  |   December 2002
Ptosis And Anterior Segment Dysgenesis- A New Clinical Entity
Author Affiliations & Notes
  • MJ Gallagher
    Department of Ophthalmology Tennent Institute Glasgow United Kingdom
  • AJ Churchill
    Department Of Ophthalmology Bristol Eye Hospital Bristol United Kingdom
  • CM Kirkness
    Department of Ophthalmology Tennent Institute Glasgow United Kingdom
  • Footnotes
    Commercial Relationships   M.J. Gallagher, None; A.J. Churchill, None; C.M. Kirkness, None. Grant Identification: None
Investigative Ophthalmology & Visual Science December 2002, Vol.43, 2403. doi:
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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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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract: : 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.

Keywords: 318 anterior segment • 417 gene/expression 

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