Novel corneal phenotype in a patient with alport syndrome

Kraig Bower, Jayson D. Edwards, Melvin E. Wagner, Thomas P. Ward, Ahmed Hidayat

Research output: Contribution to journalArticle

Abstract

PURPOSE: To report the clinical and histopathologic findings of an unusual keratopathy, which may represent a new corneal dystrophy in a patient with Alport syndrome (ATS). METHODS: A 59-year-old woman with longstanding diagnosis of autosomal recessive ATS was evaluated for progressively decreasing vision in the left eye. She had anterior lenticonus and cataract and central corneal stromal opacification with significant thinning and flattening bilaterally. She underwent penetrating keratoplasty and cataract extraction with posterior chamber intraocular lens implantation. We describe the light microscopic and ultrastructural findings from the cornea. RESULTS: Histopathology of the corneal button revealed marked stromal thinning with decreased keratocytes. The endothelial cells were attenuated and focally lost. Immunohistochemical stains for cytokeratin were positive, findings consistent with posterior polymorphous dystrophy (PPMD). Transmission electron microscopy showed necrosis and a marked loss of keratocytes. Multilayering of the endothelium was consistent with PPMD, but mature desmosomes and microvilli were absent. In vivo confocal microscopy on the fellow eye showed linear hyporeflective bands at the level of Descemet's membrane consistent with PPMD. In addition, there were fine linear changes in the deep stroma and diffuse hyperreflectivity of the mid and superficial stroma with lack of identifiable keratocytes throughout. CONCLUSIONS: We believe this to be the first reported case to demonstrate some histopathologic features of PPMD in ATS. However, the clinical, histopathologic, and ultrastructural characteristics are not typical of PPMD. This may represent a new phenotypic expression of PPMD or may be a distinct clinicopathologic dystrophy associated with ATS.

Original languageEnglish (US)
Pages (from-to)599-606
Number of pages8
JournalCornea
Volume28
Issue number5
DOIs
StatePublished - Jun 2009
Externally publishedYes

Fingerprint

Hereditary Nephritis
Phenotype
Descemet Membrane
Desmosomes
Penetrating Keratoplasty
Intraocular Lens Implantation
Cataract Extraction
Microvilli
Keratins
Transmission Electron Microscopy
Confocal Microscopy
Cornea
Cataract
Endothelium
Necrosis
Coloring Agents
Endothelial Cells
Light

Keywords

  • Alport syndrome
  • Confocal microscopy
  • Corneal dystrophy
  • PPMD
  • Ultrastructure

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Bower, K., Edwards, J. D., Wagner, M. E., Ward, T. P., & Hidayat, A. (2009). Novel corneal phenotype in a patient with alport syndrome. Cornea, 28(5), 599-606. https://doi.org/10.1097/ICO.0b013e31818f9706

Novel corneal phenotype in a patient with alport syndrome. / Bower, Kraig; Edwards, Jayson D.; Wagner, Melvin E.; Ward, Thomas P.; Hidayat, Ahmed.

In: Cornea, Vol. 28, No. 5, 06.2009, p. 599-606.

Research output: Contribution to journalArticle

Bower, K, Edwards, JD, Wagner, ME, Ward, TP & Hidayat, A 2009, 'Novel corneal phenotype in a patient with alport syndrome', Cornea, vol. 28, no. 5, pp. 599-606. https://doi.org/10.1097/ICO.0b013e31818f9706
Bower, Kraig ; Edwards, Jayson D. ; Wagner, Melvin E. ; Ward, Thomas P. ; Hidayat, Ahmed. / Novel corneal phenotype in a patient with alport syndrome. In: Cornea. 2009 ; Vol. 28, No. 5. pp. 599-606.
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