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...
Further Reading
Reidy JJ (ed) (2012) Section 8: external disease and cornea. American Academy of Ophthalmology: basic and clinical science course, pp 291–296
Weiss JS, Møller HU, Lisch W et al (2008) The IC3D classification of the corneal dystrophies. Cornea 27:S1–S42
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Nightingale, A., Gupta, A. (2014). Posterior Polymorphous Corneal Dystrophy. In: Schmidt-Erfurth, U., Kohnen, T. (eds) Encyclopedia of Ophthalmology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-35951-4_916-1
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DOI: https://doi.org/10.1007/978-3-642-35951-4_916-1
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