Encyclopedia of Ophthalmology

Living Edition
| Editors: Ursula Schmidt-Erfurth, Thomas Kohnen

Posterior Polymorphous Corneal Dystrophy

Living reference work entry
DOI: https://doi.org/10.1007/978-3-642-35951-4_916-1

Synonyms

Definition

Endothelial corneal dystrophy.

Etiology

Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominantly inherited corneal dystrophy. Three genetic loci – PPCD 1 through 3 – have been isolated to chromosomes 20, 1, and 10, respectively. Mutations in COL8A2 (collagen type VIII alpha 2) and ZEB1 (two-handed zinc-finger homeodomain transcription factor 8) are responsible for PPCD 2 and PPCD 3. The gene implicated for PPCD 1 has not been isolated.

Clinical Presentation

The onset of PPCD is in early childhood. Patients often present with asymmetric, deep corneal lesions of various morphologies including nodular, vesicular, and blister-like lesions. Patients can also present with deep stromal broadbands with scalloped edges have been termed “railroad tracks” (Fig. 1a, b). Geographic-shaped lesions at the level of Descemet’s membrane are often present. Stromal and epithelial edema can be variably...
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Further Reading

  1. Reidy JJ (ed) (2012) Section 8: external disease and cornea. American Academy of Ophthalmology: basic and clinical science course, pp 291–296Google Scholar
  2. Weiss JS, Møller HU, Lisch W et al (2008) The IC3D classification of the corneal dystrophies. Cornea 27:S1–S42PubMedPubMedCentralGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  1. 1.Department of OphthalmologyThe New York Eye & Ear Infirmary of Mount SinaiNew YorkUSA