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MattiSeppänen

Corneal Degeneration

Essentials

  • Corneal degenerations (dystrophies) are progressive disorders of both eyes.
  • They are divided into superficial, stromal and posterior types.
  • They may cause few symptoms or various degrees of impaired vision.
  • Exacerbations may involve acute eye pain.
  • For conical degeneration of the cornea (keratoconus), see separate article Keratoconus (Conical Degeneration of the Cornea).

Prevalence

  • Superficial degeneration is in most cases detected before the age of 20 years. It is not associated with other eye disorders or with systemic diseases.
  • Posterior dystrophy is quite common. The patients are often older than 40.

Symptoms and findings

  • Depending on the form of disease, the following may be seen:
    • map- or fingerprint-like or, sometimes, blister-like lesions of the superficial cornea
    • reduced visual acuity, increased astigmatism
    • painful corneal erosions
    • recurrent epithelial erosions, particularly in the morning when opening the eyes
    • accumulations of some material in various corneal layers.
  • In some forms of the disease, visual acuity can remain good for a long time and the eye can be asymptomatic.

Workup

  • Visual acuity
  • Corneal tomography and biomicroscopy
  • Gene tests are recommended for the differential diagnosis of certain types of degeneration.
    • In stromal degeneration, they are recommended for testing the TGFBI gene defects.
    • If the Meretoja syndrome (Finnish-type familial amyloidosis http://www.orpha.net/en/disease/detail/85448) is suspected, the gelsolin gene c.640G>A gene defect should be tested for.

Treatment

  • An ophthalmologist will perform a more detailed diagnosis and classification of corneal degeneration.
  • Treatment varies depending on the type of disease.
    • In superficial degeneration, phototherapeutic keratectomy (PTK, laser treatment of the superficial corneal tissue) may be considered.
    • In stromal degeneration, moisturising drops are useful.
    • Partial thickness or penetrating corneal transplantation is considered in advanced disease.

    References

    • Seppänen M, Kaarniranta K, Setälä N, Uusitalo H (eds.). [Handbook of Ophthalmology]. 3rd revised edition. Duodecim Publishing Company 2022. Available in Finnish.