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Bilateral progressive essential iris atrophy and keratoconus with coincident features of posterior polymorphous dystrophy: a case report and proposed pathogenesis.
Cornea. 1992 May; 11(3):255-61.C

Abstract

We report the first case known to us of an apparent bilateral association of essential iris atrophy (EIA) and keratoconus (KC), with coincident features of posterior polymorphous dystrophy (PPD). Based on this case and the published natural history and findings of both the irido corneal endothelial (ICE) syndrome and PPD, we propose a new hypothesis for the pathogenesis of the ICE syndrome with associated KC and/or PPD. We suggest that, similar to the genetics of retinoblastoma, the predisposition for either the ICE syndrome or for PPD is inherited as an inactive allele, the so-called "first hit." Inactivation of the second allele, or "second hit," which could occur at any time, might be the product of the background mutation rate or of an environmental trigger. Dedifferentiation or an abnormality in normal development could occur after the first or second hit, resulting in varying clinical patterns. We also concur with other investigators that PPD could be part of the spectrum of the ICE syndrome, owing to similarities in their clinical presentations, histopathology, specular and electron microscopy, and natural history.

Authors+Show Affiliations

Center for Sight, Georgetown University Medical Center, Washington, D.C.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1587135

Citation

Blair, S D., et al. "Bilateral Progressive Essential Iris Atrophy and Keratoconus With Coincident Features of Posterior Polymorphous Dystrophy: a Case Report and Proposed Pathogenesis." Cornea, vol. 11, no. 3, 1992, pp. 255-61.
Blair SD, Seabrooks D, Shields WJ, et al. Bilateral progressive essential iris atrophy and keratoconus with coincident features of posterior polymorphous dystrophy: a case report and proposed pathogenesis. Cornea. 1992;11(3):255-61.
Blair, S. D., Seabrooks, D., Shields, W. J., Pillai, S., & Cavanagh, H. D. (1992). Bilateral progressive essential iris atrophy and keratoconus with coincident features of posterior polymorphous dystrophy: a case report and proposed pathogenesis. Cornea, 11(3), 255-61.
Blair SD, et al. Bilateral Progressive Essential Iris Atrophy and Keratoconus With Coincident Features of Posterior Polymorphous Dystrophy: a Case Report and Proposed Pathogenesis. Cornea. 1992;11(3):255-61. PubMed PMID: 1587135.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Bilateral progressive essential iris atrophy and keratoconus with coincident features of posterior polymorphous dystrophy: a case report and proposed pathogenesis. AU - Blair,S D, AU - Seabrooks,D, AU - Shields,W J, AU - Pillai,S, AU - Cavanagh,H D, PY - 1992/5/1/pubmed PY - 1992/5/1/medline PY - 1992/5/1/entrez SP - 255 EP - 61 JF - Cornea JO - Cornea VL - 11 IS - 3 N2 - We report the first case known to us of an apparent bilateral association of essential iris atrophy (EIA) and keratoconus (KC), with coincident features of posterior polymorphous dystrophy (PPD). Based on this case and the published natural history and findings of both the irido corneal endothelial (ICE) syndrome and PPD, we propose a new hypothesis for the pathogenesis of the ICE syndrome with associated KC and/or PPD. We suggest that, similar to the genetics of retinoblastoma, the predisposition for either the ICE syndrome or for PPD is inherited as an inactive allele, the so-called "first hit." Inactivation of the second allele, or "second hit," which could occur at any time, might be the product of the background mutation rate or of an environmental trigger. Dedifferentiation or an abnormality in normal development could occur after the first or second hit, resulting in varying clinical patterns. We also concur with other investigators that PPD could be part of the spectrum of the ICE syndrome, owing to similarities in their clinical presentations, histopathology, specular and electron microscopy, and natural history. SN - 0277-3740 UR - https://www.unboundmedicine.com/medline/citation/1587135/Bilateral_progressive_essential_iris_atrophy_and_keratoconus_with_coincident_features_of_posterior_polymorphous_dystrophy:_a_case_report_and_proposed_pathogenesis_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=1587135.ui DB - PRIME DP - Unbound Medicine ER -