Fuchs Endothelial Corneal Dystrophy

The CMGs are guidelines on the diagnosis and management of a range of common and rare, but important, eye conditions that present with varying frequency in primary and first contact care.

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Aetiology

  • Thickening of posterior part of Descemet’s membrane with localised excrescences (guttata)
  • Thinning, degeneration and loss of endothelial cells
  • Reduced endothelial function produces corneal oedema
  • Resultant stromal and epithelial oedema leads to epithelial bullae
  • Supposed association with OHT / open angle glaucoma is controversial

Predisposing factors

  • Cases with no known inheritance are most common, although an autosomal dominant inheritance pattern has been described
  • Usually a slowly progressive disease of older patients (symptoms rare under age 50)
  • Smoking
  • One of the more common corneal dystrophies, especially in women
  • A rare early-onset variant begins in the first decade of life

Symptoms

  • None in the early stages
  • Glare and blurred vision especially on waking (symptoms accentuated by overnight corneal oedema)
  • Diurnal changes in refraction (relatively myopic on waking)
  • Sharp pain (when epithelial bullae rupture)

Signs

  • Bilateral (may be asymmetrical)
  • Central cornea affected (may extend to periphery in time)
    • cystic epithelial oedema, ground glass appearance (bullous keratopathy)
    • stromal oedema and thickening (endothelial decompensation)
    • thickened Descemet’s membrane
    • fine pigment dusting on endothelium
    • excrescences on posterior surface (guttata) produce ‘beaten metal’ appearance and interrupt specular image of endothelium
  • Loss of contrast sensitivity
  • Reduced corneal sensitivity

The stages of Fuchs Dystrophy have been graded by a number of authorities, for example by Krachmer, whose system has six levels

Differential diagnosis

  • Pseudophakic or aphakic bullous keratopathy
  • Posterior Polymorphous Dystrophy
  • Cornea guttata (often listed as a dystrophy, but not necessarily progressive)
  • Corneal hydrops (in keratoconus)
  • Contact lens overwear

Management by optometrist

Practitioners should recognise their limitations and where necessary seek further advice or refer the patient elsewhere

GRADE Level of evidence and strength of recommendation always relates to the statement(s) immediately above

Non pharmacological
  • Photography and imaging, including specular microscopy (if available)
  • Measurement of central corneal thickness (CTT) for monitoring progression of disease (see evidence base)
  • Where there is pain, a therapeutic contact lens may protect exposed corneal nerves and reduce friction between lid margins and bullae on blinking (see evidence base) 
  • Monitor for glaucoma and/or ocular hypertension (controversial: see evidence base)

(GRADE*: Level of evidence=low, Strength of recommendation=strong)
 

Pharmacological
  • Ocular lubricants for symptomatic relief (drops for use during the day, unmedicated ointment for use at bedtime)

(GRADE*: Level of evidence=low, Strength of recommendation=strong)

  • Oc. sodium chloride 5% (in severe cases with persistent oedema) applied in the mornings and as necessary. The dosage will need to be varied as usefulness or otherwise in controlling the patient’s symptoms becomes apparent

(GRADE*: Level of evidence=low, Strength of recommendation=strong)

Management category

B1: initial management, possible routine referral (modified statement)

Possible management by ophthalmologist

  • Photography and imaging, including specular microscopy
  • Measurement of CTT for monitoring progression of disease
  • Repeat assessment to establish progression
  • When condition no longer responsive to management of symptoms, may offer surgery:
    • posterior lamellar transplantation (currently the preferred treatment for irreversible corneal endothelial decompensation); techniques include:
      • Descemet’s Stripping Automated Endothelial Keratoplasty, DSAEK
      • Descemet’s Stripping Endothelial Keratoplasty, DSEK
      • Descemet’s Membrane Endothelial Keratoplasty, DMEK
    • penetrating keratoplasty
    • either of the above procedures may be combined with cataract surgery if this is clinically indicated

NB: evidence from randomised controlled clinical trials [RCTs] is insufficient to support superiority of newer endothelial keratoplasty procedures over traditional penetrating keratoplasty. Furthermore, prospective national registry data shows higher transplant failure rates than is seen following PK. However, the preference for posterior lamellar transplantation is based on the advantages of the technique which include lower refractive error, better globe integrity and faster visual recovery

Evidence base

*GRADE: Grading of Recommendations Assessment, Development and Evaluation (www.gradingworkinggroup.org)
 

Sources of evidence

Coster DJ, Lowe MT, Keane MC, Williams KA; Australian Corneal Graft Registry Contributors. A comparison of lamellar and penetrating keratoplasty outcomes: a registry study. Ophthalmology 2014;121(5):979-87

Greenrod EB, Jones MN, Kaye S, Larkin DF; National Health Service Blood and Transplant Ocular Tissue Advisory Group and Contributing Ophthalmologists (Ocular Tissue Advisory Group Audit Study 16). Center and surgeon effect on outcomes of endothelial keratoplasty versus penetrating keratoplasty in the United Kingdom. Am J Ophthalmol. 2014;158(5):957-66

Knezović I, Dekaris I, Gabrić N, Cerovski J, Barisić A, Bosnar D, Rastegorac P, Parać A. Therapeutic efficacy of 5% NaCl hypertonic solution in patients with bullous keratopathy. Coll Antropol. 2006;30:405-8

Nanavaty MA, Wang X, Shortt AJ. Endothelial keratoplasty versus penetrating keratoplasty for Fuchs endothelial dystrophy. Cochrane Database Syst Rev. 2014;2:CD008420

Nagarsheth M, Singh A, Schmotzer B, Babineau DC, Sugar J, Lee WB, Ivengar SK, Lass JH; Fuchs Genetics Multi-Center Study Group. Relationship Between Fuchs Endothelial Corneal Dystrophy Severity and Glaucoma and/or Ocular Hypertension. Arch Ophthalmol. 2012;130:1384-8

Kopplin LJ, Przepyszny K, Schmotzer B et al (for the Fuchs Endothelial Corneal Dystrophy Genetics Multi-Center Study Group). Relationship of Fuchs Endothelial Corneal Dystrophy Severity to Central Corneal Thickness. Arch Ophthalmol. 2012;130:433-9

Rice GD, Wright K, Silverstein SM. A retrospective study of the association between Fuchs’ endothelial dystrophy and glaucoma. Clin Ophthalmol.2014;8:2155-9

Williams, KA, Keane, MC, Galettis, RA, Jones, VJ, Mills, RAD, Coster, DJ. The Australian Corneal Graft Registry Report. South Australian Health and Medical Research Institute 2015 http://dspace.flinders.edu.au/xmlui/handle/2328/35402?show=full 

Note on corneal dystrophies

Corneal dystrophies are progressive, usually bilateral, mostly inherited, alterations in corneal transparency that develop without inflammation. In the past, the nomenclature of the many dystrophies has often caused confusion. A new classification (the IC3D Classification) has been proposed which integrates up-to-date information on phenotypic description, histopathological examination and genetic analysis:
http://eyepath.org.uk/wp- content/uploads/2016/02/IC3D_Classification_of_Corneal_Dystrophies_Edition.2.pdf


In everyday clinical practice, the most commonly encountered corneal dystrophies are Epithelial Basement Membrane Dystrophy (Map-Dot-Fingerprint Dystrophy, Cogan’s Dystrophy), which affects the epithelium and predisposes to Recurrent Corneal Epithelial Erosion (see the Clinical Management Guideline of that name) and Fuchs Endothelial Corneal Dystrophy, the subject of this Clinical Management Guideline.

Lay summary

A corneal dystrophy is a condition in which the cornea loses its normal transparency. It is usually inherited, affects both eyes and is progressive. There is no inflammation or infection. This particular corneal dystrophy was first described by an Austrian ophthalmologist, Ernst Fuchs, in 1910, and it has borne his name ever since. In this condition the cells lining the back of the cornea (the endothelial cells), which normally pump water out of the cornea, keeping it clear, no longer work properly. As a result the cornea becomes water-logged and cloudy and the vision becomes hazy. The condition is painless at first, but if, at a later stage, blisters form on the surface of the cornea and then burst, sharp pain may result. No treatment is available to reverse this condition but if the vision is greatly affected or the eye is painful, the ophthalmologist may recommend a corneal transplant procedure. This has a good chance of improving the vision and making the eye comfortable.

Fuchs Endothelial Corneal Dystrophy
Version 12
Date of search 24.08.16
Date of revision 22.12.16
Date of publication 01.06.17
Date for review 23.08.18
© College of Optometrists 

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