Posterior corneal vesicle syndrome or posterior polymorphous corneal dystrophy? A case report of a heterozygous intronic variant in the COL4A3 gene

Pardos et al. were the first to describe the posterior vesicular syndrome and separate it from the posterior polymorphic dystrophy [1], [2]. Posterior vesicular syndrome (PVC) is characterized by unilateral vesicular, band and/or scalloped lesions at the level of Descemet's membrane and endothelium, no iris abnormalities and normal intraocular pressure (IOP) [1], [2], [3], [4], [5]. Generally, no progression is documented, and on rare occasions it could produce visual impairments [1], [2], [3], [4], [5]. There is no evidence of genetic inheritance [1], [2], [3], [4], [5]. Meanwhile, posterior polymorphous corneal dystrophy (PPCD) is a genetically heterogeneous bilateral eye disease [5], [6], [7], [8], [9]. PPCD can exhibit various features such as peripheral synechiae, glaucoma, iris atrophy, corneal edema, and corneal steepening [1], [2], [3], [4], [6], [7], and it is associated with several mutations, such as those in genes OVOL2, ZEB1, GRHL2, VSX1, and COL8A2 [5], [6], [7], [8], [9]. Since PPCD can develop corneal edema or diffuse corneal opacity and requires corneal transplantation, the histological analysis has been well characterized [5], [6], [9]. There is a transformation of the corneal endothelial cells into fibroblastic and epithelial-like cells [1], [2], [3], [4], [6], [7].

Posterior vesicular syndrome could be considered a non-familial, unilateral, and non-progressive variant of PPCD [2], [3], [5], [9]. Vesicle-like lesions and band lesions are clinically observed in the posterior corneal layers in PVC as well as in PPCD [1], [2], [3], [4], [6]. Both diseases presented decreased endothelial cell density and pleomorphism in the affected eyes [3], [4], [6]. To the best of our knowledge, no histological analysis of PCV corneas has been performed because PCV does not usually induce corneal edema or opacity that requires corneal transplantation [5], [6].

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