Granular Corneal Dystrophy Clinical Presentation

Updated: May 02, 2018
  • Author: Jean Deschênes, MD, FRCSC; Chief Editor: Hampton Roy, Sr, MD  more...
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Presentation

History

Patients with granular corneal dystrophy (GCD) may have decreased vision, photosensitivity, and/or eye pain (from recurrent corneal erosions). Visual acuity decreases with age. As the pattern of inheritance for this dystrophy is autosomal dominant, one of the parents of the patient likely also has granular corneal dystrophy.

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Physical

Granular corneal dystrophy is characterized by bilateral formation of discrete, focal, white granular deposits in the anterior stroma of cornea with clear areas between these deposits. The granules are primarily located in the central cornea, with an absence of these deposits in the peripheral cornea. The deposits can resemble crushed breadcrumbs or snowflakes.

As patients advance in age, the deposits become larger and increase in number. Eventually, the intervening clear areas develop a mild-to-severe corneal haze. When there are clear spaces between the deposits, vision generally is not severely affected. However, over time, the clear spaces become opacified. This late opacification is usually much more superficial than the longstanding, dense white granules. Vision dramatically declines when the clear spaces opacify.

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Causes

Granular dystrophy is an autosomal-dominant condition that affects the TGFBI (BIGH3) gene; its genetic defect has been mapped to chromosome 5q.

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Complications

Complications of granular corneal dystrophy include loss of vision and recurrent corneal erosions.

Complications of recurrent erosions include corneal infection and scarring, which can lead to significant decreased vision.

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