December 2002
Volume 43, Issue 13
Free
ARVO Annual Meeting Abstract  |   December 2002
Phenotypic and Pathologic Features of A New Corneal Stromal Dystrophy Affecting a Pennsylvania Family
Author Affiliations & Notes
  • C Callahan
    Ophthalmology Pennsylvania State University Hershey PA
  • GO D Rosenwasser
    Central Pennsylvania Eye Institute Hershey PA
  • JW Sassani
    Ophthalmology Pennsylvania State University Hershey PA
  • JW McManaway
    Ophthalmology Pennsylvania State University Hershey PA
  • L Rosenwasser
    Central Pennsylvania Eye Institute Hershey PA
  • Footnotes
    Commercial Relationships   C. Callahan, None; G.O.D. Rosenwasser, None; J.W. Sassani, None; J.W. McManaway, None; L. Rosenwasser, None.
Investigative Ophthalmology & Visual Science December 2002, Vol.43, 1722. doi:
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      C Callahan, GO D Rosenwasser, JW Sassani, JW McManaway, L Rosenwasser; Phenotypic and Pathologic Features of A New Corneal Stromal Dystrophy Affecting a Pennsylvania Family . Invest. Ophthalmol. Vis. Sci. 2002;43(13):1722.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Abstract: : Purpose: To characterize the various pathologic and phenotypic features associated with a new corneal stromal dystrophy. The authors investigated the mode of inheritance, natural history, clinical manifestations, and histological characteristics of this disease. Methods: A Pennsylvania family was found to have a previously unreported corneal dystrophy. This family was investigated and a pedigree was established. Affected members received complete ophthalmic evaluations. Specular microscopy, pachymetry, and blood samples for genetic analysis also were obtained. In one patient, penetrating keratoplasty was required and provided tissue for histological analysis. Results: This corneal dystrophy involves the cornea at approximately 80% stromal thickness, manifesting as variable, confluent gray opacities. Endothelial cysts are universally seen in affected individuals. Those involved sometimes have associated iris abnormalities. Histology reveals an absent Bowman's membrane and disorganized stromal lamellae. Age of presentation and degree of visual impairment are variable. Pedigree data suggest an autosomal dominant mode of transmission. Genetic analysis to characterize inheritance is in progress. Conclusion: A new, previously unknown, corneal dystrophy characterized by deep stromal abnormalities, cystic endothelial changes, and varying degrees of visual impairment has been identified. This study establishes the natural history and clinical manifestations of this condition and begins to explain the histopathology and genetic abnormalities found in those affected.

Keywords: 369 cornea: clinical science • 374 cornea: stroma and keratocytes • 420 genetics 
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