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Keratoconus

DESCRIPTION: A rare, trilateral, degenerative disease; inherited as an autosomal recessive trait; affects all races; appears in the second decade of life, and progresses slowly between the ages of 20 and 60; associated with a number of other diseases, including Down's syndrome, atopic dermatitis, retinitis pigmentosa, aniridia, Marfan's syndrome. Keratoconus is literally an increasing conical shape to the cornea; the central cornea thins and may rupture in advanced stages. Blurred vision is the only symptom, however, examination shows a distorted corneal reflection and an inability to see the fundi.

TREATMENT: Contact lenses improve visual acuity in the earliest stages. A corneal transplant is indicated when the corrected visual acuity decreases beyond the patient's tolerance for functional activities.

IMPLICATIONS: If a corneal transplant is done before corneal thinning occurs, about 80%-95% of patients retain reading vision.

Genetic counseling may be indicated.

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