Corneal pathology in microphthalmia with linear skin defects syndrome

Rashmi Kapur, Elmer Y. Tu, Sami Toyran, Parthiv Shah, Sumalee Vangveeravong, William C. Lloyd, Deepak P. Edward

Research output: Contribution to journalArticle

Abstract

PURPOSE: To describe the histopathology of the cornea in microphthalmia with linear streaks (MLS) syndrome. METHODS: Two patients with MLS syndrome underwent penetrating keratoplasty. This study describes the histopathology and investigates immunophenotype of the corneal extracellular matrix by using keratan sulfate and collagen type III antibodies. RESULTS: Clinical examination revealed bilateral sclerocornea and characteristic skin changes. By light microscopy, central corneal stroma in both patients showed vascularization and irregular thick collagen lamellae typical of sclerocornea. In addition, corneal thinning, anterior synechiae, and the absence of the Descemet membrane were noted, which was suggestive of Peters anomaly. Diffuse and intense anti-keratan sulfate staining and minimal anti-collagen type III stromal staining were seen in both corneal buttons. CONCLUSIONS: The cornea in MLS may clinically resemble sclerocornea. Histologic features resemble those previously described in sclerocornea and also seen in anterior segment dysgeneses. Keratan sulfate and collagen type III labeling suggests that the corneal extracellular matrix resembled cornea and not sclera.

Original languageEnglish (US)
Pages (from-to)734-738
Number of pages5
JournalCornea
Volume27
Issue number6
StatePublished - Jul 2008
Externally publishedYes

Fingerprint

Keratan Sulfate
Microphthalmos
Collagen Type III
Cornea
Pathology
Extracellular Matrix
Staining and Labeling
Descemet Membrane
Corneal Stroma
Penetrating Keratoplasty
Sclera
Microscopy
Collagen
Light
Skin
Sclerocornea
Syndromic 7 Microphthalmia
Antibodies

Keywords

  • MIDAS syndrome
  • MLS syndrome
  • Sclerocornea

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Kapur, R., Tu, E. Y., Toyran, S., Shah, P., Vangveeravong, S., Lloyd, W. C., & Edward, D. P. (2008). Corneal pathology in microphthalmia with linear skin defects syndrome. Cornea, 27(6), 734-738.

Corneal pathology in microphthalmia with linear skin defects syndrome. / Kapur, Rashmi; Tu, Elmer Y.; Toyran, Sami; Shah, Parthiv; Vangveeravong, Sumalee; Lloyd, William C.; Edward, Deepak P.

In: Cornea, Vol. 27, No. 6, 07.2008, p. 734-738.

Research output: Contribution to journalArticle

Kapur, R, Tu, EY, Toyran, S, Shah, P, Vangveeravong, S, Lloyd, WC & Edward, DP 2008, 'Corneal pathology in microphthalmia with linear skin defects syndrome', Cornea, vol. 27, no. 6, pp. 734-738.
Kapur R, Tu EY, Toyran S, Shah P, Vangveeravong S, Lloyd WC et al. Corneal pathology in microphthalmia with linear skin defects syndrome. Cornea. 2008 Jul;27(6):734-738.
Kapur, Rashmi ; Tu, Elmer Y. ; Toyran, Sami ; Shah, Parthiv ; Vangveeravong, Sumalee ; Lloyd, William C. ; Edward, Deepak P. / Corneal pathology in microphthalmia with linear skin defects syndrome. In: Cornea. 2008 ; Vol. 27, No. 6. pp. 734-738.
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AU - Tu, Elmer Y.

AU - Toyran, Sami

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AU - Lloyd, William C.

AU - Edward, Deepak P.

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AB - PURPOSE: To describe the histopathology of the cornea in microphthalmia with linear streaks (MLS) syndrome. METHODS: Two patients with MLS syndrome underwent penetrating keratoplasty. This study describes the histopathology and investigates immunophenotype of the corneal extracellular matrix by using keratan sulfate and collagen type III antibodies. RESULTS: Clinical examination revealed bilateral sclerocornea and characteristic skin changes. By light microscopy, central corneal stroma in both patients showed vascularization and irregular thick collagen lamellae typical of sclerocornea. In addition, corneal thinning, anterior synechiae, and the absence of the Descemet membrane were noted, which was suggestive of Peters anomaly. Diffuse and intense anti-keratan sulfate staining and minimal anti-collagen type III stromal staining were seen in both corneal buttons. CONCLUSIONS: The cornea in MLS may clinically resemble sclerocornea. Histologic features resemble those previously described in sclerocornea and also seen in anterior segment dysgeneses. Keratan sulfate and collagen type III labeling suggests that the corneal extracellular matrix resembled cornea and not sclera.

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