c.-61G>A in OVOL2 is a Pathogenic 5′ Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1

Cornea ◽  
2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Lucas Janeschitz-Kriegl ◽  
Dhryata Kamdar ◽  
Mathieu Quinodoz ◽  
Karolina Kaminska ◽  
Marc Folcher ◽  
...  
Keyword(s):  
Untranslated Region ◽  
Corneal Dystrophy ◽  
Posterior Polymorphous Corneal Dystrophy

Corneal cross-linking for treatment of progressive keratoconus in a patient with Alport syndrome: A case report

2021 ◽  
pp. 112067212199767
Author(s):  
Iva Krolo ◽  
Aida Kasumović ◽  
Ivana Radman ◽  
Pavao Pavić
Keyword(s):  
Case Report ◽  
Alport Syndrome ◽  
Contact Lenses ◽  
Corneal Dystrophy ◽  
Clinical Findings ◽  
Cross Linking ◽  
Posterior Polymorphous Corneal Dystrophy ◽  
One Year ◽  
Corneal Tomography

Purpose: Ocular features of Alport syndrome include anterior lenticonus, posterior polymorphous corneal dystrophy, and fleck-and-dot retinopathy in most cases. Keratoconus in such patients has been rarely mentioned in previous studies. To our knowledge, this is the first report of corneal cross-linking for halting the progression of keratoconus in a patient with Alport syndrome. Case report: A 22-year-old male was referred for his initial corneal topography, after he was already prescribed with rigid gas-permeable contact lenses. Alport syndrome was diagnosed in his infancy and gene COL4A5 mutation was confirmed. Ophthalmological evaluation confirmed keratoconus. One-year follow-up showed a progression on his right eye and standard corneal cross-linking was performed. Stabilization of the disease marked by normalization in visual function and corneal tomography values was noticed 1 year after the procedure. Conclusions: When diagnosing ocular clinical findings of Alport syndrome, keratoconus should be considered. Standard corneal cross-linking protocol can halt its progression.

Posterior Polymorphous Corneal Dystrophy in Czech Families Maps to Chromosome 20 and Excludes theVSX1Gene

2005 ◽  
Vol 46 (12) ◽  
pp. 4480 ◽  
Author(s):  
Rhian Gwilliam ◽  
Petra Liskova ◽  
Martin Filipec ◽  
Stanislav Kmoch ◽  
Katerina Jirsova ◽  
...  
Keyword(s):  
Corneal Dystrophy ◽  
Chromosome 20 ◽  
Posterior Polymorphous Corneal Dystrophy

scholarly journals Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1

PLoS ONE ◽  
2017 ◽  
Vol 12 (1) ◽  
pp. e0169215 ◽  
Author(s):  
Doug D. Chung ◽  
Ricardo F. Frausto ◽  
Aleck E. Cervantes ◽  
Katherine M. Gee ◽  
Marina Zakharevich ◽  
...  
Keyword(s):  
Corneal Dystrophy ◽  
Promoter Mutation ◽  
Posterior Polymorphous Corneal Dystrophy

Posterior Polymorphous Corneal Dystrophy in a Pediatric Population

Cornea ◽  
2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Abdelrahman M. Elhusseiny ◽  
Hajirah N. Saeed
Keyword(s):  
Pediatric Population ◽  
Corneal Dystrophy ◽  
Posterior Polymorphous Corneal Dystrophy

scholarly journals Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3

2015 ◽  
Vol 24 (7) ◽  
pp. 985-991 ◽  
Author(s):  
Petra Liskova ◽  
Cerys J Evans ◽  
Alice E Davidson ◽  
Marketa Zaliova ◽  
Lubica Dudakova ◽  
...  
Keyword(s):  
Corneal Dystrophy ◽  
Posterior Polymorphous Corneal Dystrophy ◽  
Type 3
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