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Congenital ectropion uvea and mechanisms of glaucoma in neurofibromatosis type 1: new insights.

Publication ,  Journal Article
Edward, DP; Morales, J; Bouhenni, RA; Patil, J; Edward, PR; Cummings, TJ; Chaudhry, IA; Alkatan, H
Published in: Ophthalmology
July 2012

OBJECTIVE: To describe the clinicopathologic features of congenital ectropion uvea associated with glaucoma in neurofibromatosis-1 (NF-1). DESIGN: Retrospective case series. PARTICIPANTS AND CONTROLS: Five cases of NF-1 associated with glaucoma, from which enucleated eyes were available, and 2 eye bank eyes used as controls. METHODS: The clinical features and courses of these patients were reviewed. Formalin-fixed, paraffin-embedded eyes were examined by light and electron microscopy. Immunohistochemistry using antineurofibromin, anti-glial fibrillary acidic protein, and antivimentin was performed in 3 patients. Gene expression of the mitogen-activated protein kinase (MAPK) signaling pathway was examined in corneal endothelial cells in 1 patient. MAIN OUTCOME MEASURES: Cause of glaucoma in patients with ectropion uvea and NF-1. RESULTS: The age of patients at the time of glaucoma diagnosis ranged from birth to 13 years. Four of the 5 patients had megalocornea and buphthalmos at presentation. Ectropion uvea was noted clinically in 2 patients, but was demonstrated histopathologically in all 5 patients. On histopathologic examination, all patients had varying degrees of angle closure secondary to endothelialization of the anterior chamber angle. Uveal neurofibromas were noted in all patients; anteriorly displaced ciliary processes were noted in 4 of 5 patients who demonstrated ciliary body involvement with neurofibromas. Absence of Schlemm's canal was observed. The endothelial cells lining the closed angle demonstrated positive stain results with the vimentin antibody. Positive antineurofibromin immunolabeling was detected in normal control corneal endothelium, but was absent in corneal endothelium in patients with endothelialization of the angle. Upregulation of genes from the MAPK signaling pathway was demonstrated in the corneal endothelial cells isolated from the NF-1 eyes. CONCLUSIONS: Ectropion uvea in NF-1 glaucoma is secondary to endothelialization of the anterior chamber angle and is associated commonly with severe pediatric glaucoma in NF-1 patients. The endothelial cell proliferation may be related to overexpression of the Ras (Rat sarcoma)-MAPK genes in these eyes.

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Published In

Ophthalmology

DOI

EISSN

1549-4713

Publication Date

July 2012

Volume

119

Issue

7

Start / End Page

1485 / 1494

Location

United States

Related Subject Headings

  • Vimentin
  • Retrospective Studies
  • Real-Time Polymerase Chain Reaction
  • Pigment Epithelium of Eye
  • Ophthalmology & Optometry
  • Neurofibromin 1
  • Neurofibromatosis 1
  • Mitogen-Activated Protein Kinases
  • Male
  • Iris Diseases
 

Citation

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Edward, D. P., Morales, J., Bouhenni, R. A., Patil, J., Edward, P. R., Cummings, T. J., … Alkatan, H. (2012). Congenital ectropion uvea and mechanisms of glaucoma in neurofibromatosis type 1: new insights. Ophthalmology, 119(7), 1485–1494. https://doi.org/10.1016/j.ophtha.2012.01.027
Edward, Deepak P., Jose Morales, Rachida A. Bouhenni, Jayaprakash Patil, Priya R. Edward, Thomas J. Cummings, Imtiaz A. Chaudhry, and Hind Alkatan. “Congenital ectropion uvea and mechanisms of glaucoma in neurofibromatosis type 1: new insights.Ophthalmology 119, no. 7 (July 2012): 1485–94. https://doi.org/10.1016/j.ophtha.2012.01.027.
Edward DP, Morales J, Bouhenni RA, Patil J, Edward PR, Cummings TJ, et al. Congenital ectropion uvea and mechanisms of glaucoma in neurofibromatosis type 1: new insights. Ophthalmology. 2012 Jul;119(7):1485–94.
Edward, Deepak P., et al. “Congenital ectropion uvea and mechanisms of glaucoma in neurofibromatosis type 1: new insights.Ophthalmology, vol. 119, no. 7, July 2012, pp. 1485–94. Pubmed, doi:10.1016/j.ophtha.2012.01.027.
Edward DP, Morales J, Bouhenni RA, Patil J, Edward PR, Cummings TJ, Chaudhry IA, Alkatan H. Congenital ectropion uvea and mechanisms of glaucoma in neurofibromatosis type 1: new insights. Ophthalmology. 2012 Jul;119(7):1485–1494.
Journal cover image

Published In

Ophthalmology

DOI

EISSN

1549-4713

Publication Date

July 2012

Volume

119

Issue

7

Start / End Page

1485 / 1494

Location

United States

Related Subject Headings

  • Vimentin
  • Retrospective Studies
  • Real-Time Polymerase Chain Reaction
  • Pigment Epithelium of Eye
  • Ophthalmology & Optometry
  • Neurofibromin 1
  • Neurofibromatosis 1
  • Mitogen-Activated Protein Kinases
  • Male
  • Iris Diseases