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Congenital stromal corneal dystrophy: for professionals

Clinical phenotype

Incidence
  • Unknown
Corneal Features
  • Bilateral diffuse corneal clouding with flake-shaped opacities and dots predominantly in the anterior stroma
  • Normal or increased corneal thickness
  • Usually evident at or shortly after birth and slowly progress over time
  • Can cause amblyopia and secondary strabismus
Symptoms
  • Progressive visual impairment due to increasing corneal clouding

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Genetics

Gene (OMIM no.) and associated function
  • DCN (#125255)
  • Encodes decorin (a type of dermatan sulphate proteoglycan)
  • Decorin is crucial to the maintenance of corneal extracellular matrix
  • Pathogenic mutations of DCN compromises decorin’s ability to bind collagen effectively, resulting in corneal structure disruption and opacities[1,2]
Inheritance pattern

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Diagnosis

Congenital stromal corneal dystrophy can be diagnosed based on its time of onset and characteristic corneal features. Genetic testing can be undertaken to confirm the diagnosis, facilitate genetic counselling, provide accurate advice on prognosis and future family planning, and aid in clinical trial participation.

This can be achieved through a variety of next generation sequencing (NGS) methods:

  • Targeted gene panels (anterior segment dysgenesis)
  • Whole exome sequencing
  • Whole genome sequencing

Related links

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Management

  • Glasses or contact lenses to correct refractive errors
  • Amblyopia treatment
  • Surgical correction of strabismus may be required
  • Corneal transplantation (penetrating or deep anterior lamellar keratoplasties) to reduce risk of amblyopia[3,4]

Related links

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Further information and support

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References

  1.  Bredrup C, Knappskog PM, Majewski J, Rodahl E, Boman H. Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Invest Ophthalmol Vis Sci. Feb 2005;46(2):420-6. doi:10.1167/iovs.04-0804
  2.  Kamma-Lorger CS, Pinali C, Martinez JC, et al. Role of Decorin Core Protein in Collagen Organisation in Congenital Stromal Corneal Dystrophy (CSCD). PLoS One. 2016;11(2):e0147948. doi:10.1371/journal.pone.0147948
  3.  Acar BT, Bozkurt KT, Duman E, Acar S. Bilateral cloudy cornea: is the usual suspect congenital hereditary endothelial dystrophy or stromal dystrophy? BMJ Case Rep. Apr 22 2016;2016doi:10.1136/bcr-2015-214094
  4.  Rødahl E, Knappskog PM, Bredrup C, Boman H. Congenital Stromal Corneal Dystrophy. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews(®). University of Washington, Seattle Copyright © 1993-2020, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.; 1993

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Updated on November 30, 2020
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