Classification of Posterior Polymorphous Corneal Dystrophy as a Corneal Ectatic Disorder Following Confirmation of Associated Significant Corneal Steepening

Corneal dystrophies have classically referred to inherited, bilateral disease without systemic findings, although there are several exceptions to this definition. Hereditary pattern is not present in most patients with epithelial basement membrane dystrophy (EBMD). Unilateral corneal changes may be found in some patients with posterior polymorphous corneal dystrophy (PPCD). TGFBI gene mutation (p.His572del) is associated with a unilateral, late-onset variant of lattice corneal dystrophy. Among all dystrophies, macular corneal dystrophy and posterior amorphous corneal dystrophy are associated with decreased corneal thickness. The International Committee for Classification of Corneal Dystrophies (IC3D) was created in 2005 to revise the corneal dystrophy nomenclature and create a current and accurate corneal dystrophy classification system. Evidential categories were created in the IC3D classification for reflecting the natural evolution of a corneal dystrophy and indicate the level of evidence supporting the existence of a given dystrophy.

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

European Journal of Ophthalmology ◽

10.1177/1120672121997672 ◽

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.

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

Investigative Opthalmology & Visual Science ◽

10.1167/iovs.05-0269 ◽

2005 ◽

Vol 46 (12) ◽

pp. 4480 ◽

Cited By ~ 37

Author(s):

Rhian Gwilliam ◽

Petra Liskova ◽

Martin Filipec ◽

Stanislav Kmoch ◽

Katerina Jirsova ◽

...

Keyword(s):

Corneal Dystrophy ◽

Chromosome 20 ◽

Posterior Polymorphous Corneal Dystrophy

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The Clinical Features and Progression of the Disease in Posterior Polymorphous Corneal Dystrophy (PPCD)

Journal of the Korean Ophthalmological Society ◽

10.3341/jkos.2014.55.3.368 ◽

2014 ◽

Vol 55 (3) ◽

pp. 368 ◽

Cited By ~ 2

Author(s):

Na Hyun Kim ◽

Man Soo Kim

Keyword(s):

Clinical Features ◽

Corneal Dystrophy ◽

Posterior Polymorphous Corneal Dystrophy

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

PLoS ONE ◽

10.1371/journal.pone.0169215 ◽

2017 ◽

Vol 12 (1) ◽

pp. e0169215 ◽

Cited By ~ 8

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

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Posterior Polymorphous Corneal Dystrophy in a Pediatric Population

Cornea ◽

10.1097/ico.0000000000002847 ◽

2021 ◽

Vol Publish Ahead of Print ◽

Author(s):

Abdelrahman M. Elhusseiny ◽

Hajirah N. Saeed

Keyword(s):

Pediatric Population ◽

Corneal Dystrophy ◽

Posterior Polymorphous Corneal Dystrophy

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Corneal Dystrophy in Dutch Belted Rabbits as a Possible Model of Thiel-Behnke Subtype of Epithelial-Stromal TGFβ-Induced Corneal Dystrophy

Toxicologic Pathology ◽

10.1177/0192623320968092 ◽

2020 ◽

pp. 019262332096809

Author(s):

JoAnn C. L. Schuh ◽

Dana L. Holve ◽

Karen E. Mundwiler

Keyword(s):

Transforming Growth Factor ◽

Transforming Growth Factor Β ◽

Corneal Opacity ◽

Corneal Dystrophy ◽

International Committee ◽

Corneal Dystrophies ◽

Transmission Electron ◽

Oct Imaging ◽

Small Clusters

The International Committee for Classification of Corneal Dystrophies (IC3D) categorized corneal dystrophies in humans using anatomic, genotypic, and clinicopathologic phenotypic features. Relative to the IC3D classification, a review of the veterinary literature confirmed that corneal dystrophy is imprecisely applied to any corneal opacity and to multiple poorly characterized histologic abnormalities of the cornea in animals. True corneal dystrophy occurs in mice with targeted mutations and spontaneously in pet dogs and cats and in Dutch belted (DB) rabbits, but these instances lack complete phenotyping or genotyping. Corneal dystrophy in DB rabbits can be an important confounding finding in ocular toxicology studies but has only been described once. Therefore, the ophthalmology and pathology of corneal dystrophy in 13 DB rabbits were characterized to determine whether the findings were consistent with or a possible model of any corneal dystrophy subtypes in humans. Slit lamp and optical coherence tomography (OCT) imaging were used to characterize corneal dystrophy over 4 months in young DB rabbits. The hyperechoic OCT changes correlated with light microscopic findings in the anterior stroma, consisting of highly disordered collagen fibers and enlarged keratocytes. Histochemical stains did not reveal abnormal deposits. Small clusters of 8 to 16 nm diameter curly fibers identified by transmission electron microscopy were consistent with Thiel-Behnke (TBCD) subtype of epithelial-stromal transforming growth factor β-induced dystrophies. Sporadic corneal dystrophy in DB rabbits appears to be a potential animal model of TBCD, but genotypic characterization will be required to confirm this categorization.

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