PPCD4

Corneal Dystrophy, Posterior Polymorphous 4

Clinical Characteristics
Ocular Features: 

The posterior corneal surface becomes highly irregular as the endothelial cells become variable in size and in number.  There may be focal areas of multilayering of endothelial cells.  Most patients have a significant reduction in endothelial cell density which eventually leads to corneal edema and blurred vision.  Some patients have anterior synechiae and corectopia with secondary glaucoma.

Corneal edema has been noted in infants at several months of age.  Painful bullous keratopathy or uncontrollable glaucoma may lead to enucleation in adult life.

Systemic Features: 

The posterior corneal surface becomes highly irregular as the endothelial cells become highly irregular in size and in number.  There may be focal areas of multilayering of endothelial cells.  Most patients have a significant reduction in endothelial cell density which eventually leads to corneal edema and blurred vision.  Some patients have anterior synechiae and corectopia with secondary glaucoma.

Corneal edema has been noted in infants at several months of age.  Painful bullous keratopathy or uncontrollable glaucoma may lead to enucleation in adult life.

Genetics

Heterozygous mutations in the GRHL2 gene (8q22.3-q24.12) are responsible for this condition.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

Corneal transplantation may benefit selected patients.E

References
Article Title: 

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4

Liskova P, Dudakova L, Evans CJ, Rojas Lopez KE, Pontikos N, Athanasiou D, Jama H, Sach J, Skalicka P, Stranecky V, Kmoch S, Thaung C, Filipec M, Cheetham ME, Davidson AE, Tuft SJ, Hardcastle AJ. Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. Am J Hum Genet. 2018 Mar 1;102(3):447-459.

PubMed ID: 
29499165
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