Stromal, descemet's and endothelial changes in macular corneal dystrophy type II

A. J. Quantock, N. J. Fullwood, E. J M A Thonar, S. R. Waltman, M. S. Cape, M. C. Kincaid, M. Ito, S. M. Verity, D. J. Schanzlin

Research output: Contribution to journalArticle

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Abstract

Purpose. A multi-faceted investigation of an individual macular corneal dystrophy (MCD) type II cornea from a 42-year-old female. Methods. Quantification of antigenic keratan sulphate in serum (ELISA with 5-D-4 antibody), synchrotron X-ray diffraction, energy dispersive X-ray microanalysis, and electron microscopic histochemistry (cuprolinic blue) and immunohistochemistry (5-D-4). Results. The level of antigenic keratan sulphate in our patient's serum was well below normal (19ng/ml compared to 251±78ng/ml). A characteristic 4.6Å X-ray reflection was evident, and the mid-stroma contained 30% less sulphur than normal. Close-packing of collagen was restricted to the superficial stroma. Abnormally-large proteoglycan filaments were noted throughout the extracellular matrix and Descemet's membrane's posterior non-banded zone, but not its anterior banded zone. Small, collagen-associated stromal proteoglycans were susceptible to digestion with chondroitinase ABC, but not keratanase I or N-glycanase. On occasion, collagen fibrils ranged in size from 20nm to 58nm, with preferential diameters of 34nm and 42nm. The endothelium expressed reduced anti-keratan sulphate labelling. Numerous endothelial inclusions were most likely due to intracellular fibrillogranular vacuoles similar to those found in the stroma. Conclusion. Based on our immunochemical findings it seems that a heterogeneity may exist within the MCD type II subgroup. Moreover, our patient's histopathology reveals pockets of large collagen fibrils, and proteoglycan abnormalities that involve Descemet's membrane and the endothelial cells.

Original languageEnglish (US)
JournalInvestigative Ophthalmology and Visual Science
Volume37
Issue number3
StatePublished - Feb 15 1996

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Keratan Sulfate
Proteoglycans
Collagen
Descemet Membrane
keratan-sulfate endo-1,4-beta-galactosidase
Chondroitin ABC Lyase
Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase
Electron Probe Microanalysis
Synchrotrons
Vacuoles
Serum
Sulfur
X-Ray Diffraction
Cornea
Endothelium
Extracellular Matrix
Digestion
Endothelial Cells
Enzyme-Linked Immunosorbent Assay
Immunohistochemistry

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Quantock, A. J., Fullwood, N. J., Thonar, E. J. M. A., Waltman, S. R., Cape, M. S., Kincaid, M. C., ... Schanzlin, D. J. (1996). Stromal, descemet's and endothelial changes in macular corneal dystrophy type II. Investigative Ophthalmology and Visual Science, 37(3).

Stromal, descemet's and endothelial changes in macular corneal dystrophy type II. / Quantock, A. J.; Fullwood, N. J.; Thonar, E. J M A; Waltman, S. R.; Cape, M. S.; Kincaid, M. C.; Ito, M.; Verity, S. M.; Schanzlin, D. J.

In: Investigative Ophthalmology and Visual Science, Vol. 37, No. 3, 15.02.1996.

Research output: Contribution to journalArticle

Quantock, AJ, Fullwood, NJ, Thonar, EJMA, Waltman, SR, Cape, MS, Kincaid, MC, Ito, M, Verity, SM & Schanzlin, DJ 1996, 'Stromal, descemet's and endothelial changes in macular corneal dystrophy type II', Investigative Ophthalmology and Visual Science, vol. 37, no. 3.
Quantock AJ, Fullwood NJ, Thonar EJMA, Waltman SR, Cape MS, Kincaid MC et al. Stromal, descemet's and endothelial changes in macular corneal dystrophy type II. Investigative Ophthalmology and Visual Science. 1996 Feb 15;37(3).
Quantock, A. J. ; Fullwood, N. J. ; Thonar, E. J M A ; Waltman, S. R. ; Cape, M. S. ; Kincaid, M. C. ; Ito, M. ; Verity, S. M. ; Schanzlin, D. J. / Stromal, descemet's and endothelial changes in macular corneal dystrophy type II. In: Investigative Ophthalmology and Visual Science. 1996 ; Vol. 37, No. 3.
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abstract = "Purpose. A multi-faceted investigation of an individual macular corneal dystrophy (MCD) type II cornea from a 42-year-old female. Methods. Quantification of antigenic keratan sulphate in serum (ELISA with 5-D-4 antibody), synchrotron X-ray diffraction, energy dispersive X-ray microanalysis, and electron microscopic histochemistry (cuprolinic blue) and immunohistochemistry (5-D-4). Results. The level of antigenic keratan sulphate in our patient's serum was well below normal (19ng/ml compared to 251±78ng/ml). A characteristic 4.6{\AA} X-ray reflection was evident, and the mid-stroma contained 30{\%} less sulphur than normal. Close-packing of collagen was restricted to the superficial stroma. Abnormally-large proteoglycan filaments were noted throughout the extracellular matrix and Descemet's membrane's posterior non-banded zone, but not its anterior banded zone. Small, collagen-associated stromal proteoglycans were susceptible to digestion with chondroitinase ABC, but not keratanase I or N-glycanase. On occasion, collagen fibrils ranged in size from 20nm to 58nm, with preferential diameters of 34nm and 42nm. The endothelium expressed reduced anti-keratan sulphate labelling. Numerous endothelial inclusions were most likely due to intracellular fibrillogranular vacuoles similar to those found in the stroma. Conclusion. Based on our immunochemical findings it seems that a heterogeneity may exist within the MCD type II subgroup. Moreover, our patient's histopathology reveals pockets of large collagen fibrils, and proteoglycan abnormalities that involve Descemet's membrane and the endothelial cells.",
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AU - Quantock, A. J.

AU - Fullwood, N. J.

AU - Thonar, E. J M A

AU - Waltman, S. R.

AU - Cape, M. S.

AU - Kincaid, M. C.

AU - Ito, M.

AU - Verity, S. M.

AU - Schanzlin, D. J.

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N2 - Purpose. A multi-faceted investigation of an individual macular corneal dystrophy (MCD) type II cornea from a 42-year-old female. Methods. Quantification of antigenic keratan sulphate in serum (ELISA with 5-D-4 antibody), synchrotron X-ray diffraction, energy dispersive X-ray microanalysis, and electron microscopic histochemistry (cuprolinic blue) and immunohistochemistry (5-D-4). Results. The level of antigenic keratan sulphate in our patient's serum was well below normal (19ng/ml compared to 251±78ng/ml). A characteristic 4.6Å X-ray reflection was evident, and the mid-stroma contained 30% less sulphur than normal. Close-packing of collagen was restricted to the superficial stroma. Abnormally-large proteoglycan filaments were noted throughout the extracellular matrix and Descemet's membrane's posterior non-banded zone, but not its anterior banded zone. Small, collagen-associated stromal proteoglycans were susceptible to digestion with chondroitinase ABC, but not keratanase I or N-glycanase. On occasion, collagen fibrils ranged in size from 20nm to 58nm, with preferential diameters of 34nm and 42nm. The endothelium expressed reduced anti-keratan sulphate labelling. Numerous endothelial inclusions were most likely due to intracellular fibrillogranular vacuoles similar to those found in the stroma. Conclusion. Based on our immunochemical findings it seems that a heterogeneity may exist within the MCD type II subgroup. Moreover, our patient's histopathology reveals pockets of large collagen fibrils, and proteoglycan abnormalities that involve Descemet's membrane and the endothelial cells.

AB - Purpose. A multi-faceted investigation of an individual macular corneal dystrophy (MCD) type II cornea from a 42-year-old female. Methods. Quantification of antigenic keratan sulphate in serum (ELISA with 5-D-4 antibody), synchrotron X-ray diffraction, energy dispersive X-ray microanalysis, and electron microscopic histochemistry (cuprolinic blue) and immunohistochemistry (5-D-4). Results. The level of antigenic keratan sulphate in our patient's serum was well below normal (19ng/ml compared to 251±78ng/ml). A characteristic 4.6Å X-ray reflection was evident, and the mid-stroma contained 30% less sulphur than normal. Close-packing of collagen was restricted to the superficial stroma. Abnormally-large proteoglycan filaments were noted throughout the extracellular matrix and Descemet's membrane's posterior non-banded zone, but not its anterior banded zone. Small, collagen-associated stromal proteoglycans were susceptible to digestion with chondroitinase ABC, but not keratanase I or N-glycanase. On occasion, collagen fibrils ranged in size from 20nm to 58nm, with preferential diameters of 34nm and 42nm. The endothelium expressed reduced anti-keratan sulphate labelling. Numerous endothelial inclusions were most likely due to intracellular fibrillogranular vacuoles similar to those found in the stroma. Conclusion. Based on our immunochemical findings it seems that a heterogeneity may exist within the MCD type II subgroup. Moreover, our patient's histopathology reveals pockets of large collagen fibrils, and proteoglycan abnormalities that involve Descemet's membrane and the endothelial cells.

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