Fuchs Endothelial Dystrophy Clinical Presentation

Updated: May 04, 2018
  • Author: Vikas Mittal, MBBS, MS; Chief Editor: Hampton Roy, Sr, MD  more...
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Presentation

History

Fuchs endothelial dystrophy is a bilateral, slowly progressive degeneration of the cornea. It affects women 2-4 times more often than men. Patients often volunteer information about affected sisters and brothers.

The condition may be detected by chance, on slit lamp examination, or during a routine checkup.

A patient may complain of less than satisfactory 20/20 vision. Early morning vision may be reported as misty. As the day progresses, the mist clears. An observant patient may make this complaint. Mistiness may remain much longer than merely in the morning. It may persist the whole day. In the early stages, it is improved by use of hypertonic drops and ointment.

Patients may have difficulty performing visual tasks, which require attention to fine letters or figures.

Patients may see halos around the sources of light.

Patients may feel a gritty or foreign body sensation during part of or during the whole day.

Progressive fall in the corrected visual acuity occurs over previous months or years.

Attacks of redness, pain, and watering, lasting for hours or days occurs.

Constant redness, pain, watering, and poor vision may be present.

Rapid onset of symptoms of fading vision and irritation after an intraocular operation, especially for cataract, may occur.

A slow and poor recovery of vision may occur after a cataract operation.

Increasing visual deterioration may develop, sometimes weeks or months after a successful Nd:YAG laser surgery for secondary cataract.

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Physical

Lids: Lids are normal in early cases. They may appear red and congested in advanced cases.

Conjunctiva: Conjunctiva is normal in early cases. It may be highly congested, especially around the limbus, when epithelial erosion, bullae formation, or infected ulceration is present.

Corneal epithelium: The corneal epithelium is normal and transparent in early cases. Bedewing of the epithelium occurs because of epithelial edema. Epithelial bullae may be present. Pannus formation occurs. Ulceration with or without infection may be present. The corneal epithelium may be thick and opaque.

Slit-lamp photograph of a 58-year-old man with epi Slit-lamp photograph of a 58-year-old man with epithelial bedewing and stromal and endothelial edema due to Fuchs endothelial dystrophy.

Corneal stroma: The corneal stroma has a normal transparency in early cases. Appearance of striae in the deeper layers is observed due to folds in the Descemet membrane. Edema of the corneal stroma occurs, first posteriorly and later anteriorly. Vascularization is present.

Corneal endothelium: Presence of cornea guttata in the central area occurs, as seen on slit lamp examination under high magnification or on specular reflection.

Beaten metal appearance may be seen in specular reflection. A similar appearance may be visible at the edge of the central corneal on retroillumination.

Anterior chamber: Anterior chamber is normal unless it is involved in some complication of the cornea.

Iris, lens, vitreous, and retina: Not involved in the process.

Intraocular pressure: Intraocular pressure (IOP) is within the reference range. IOP may be raised independent of the disease.

Vision: Vision is normal in the initial stages. Vision may be reduced to a varying degree later because of a corneal irregularity or opacification or corneal complication.

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Causes

Several studies have proposed an autosomal dominant inheritance with high degree of penetrance for Fuchs endothelial dystrophy. [4] It affects females 2-4 times more than males. Females are more severely affected than males.

Another hypothesis suggests that dysfunction of the endothelial mitochondria, potentially resulting from abnormalities of the mitochondrial genome, may underlie the endothelial cell failure that characterizes Fuchs endothelial dystrophy.

Results of a genomewide association study and replication studies showed that E2-2 protein was associated with Fuchs corneal dystrophy (FCD). The association of alleles in the transcription factor 4 gene (TCF4), which encodes an E2-2 protein, increased the odds of FCD by 30 for homozygotes. This type of genetic testing may be useful in the future. [5]

Associated factors include the following:

  • Cataract
  • Age-related macular degeneration
  • Cardiovascular disease
  • Axial hypermetropia
  • Female hormones
  • Inflammation (pseudo-Fuchs endothelial dystrophy)
  • Acute angle-closure glaucoma: This may complicate the course of Fuchs endothelial dystrophy, presumably because the thick peripheral cornea further compromises the already narrow angle, including acute angle closure form.
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