Developmental Anomalies

5.3.1 Protrusion Anomalies 5.3.1.1 Keratoconus Definition

Conical, usually bilateral central deformation of the cornea with parenchymal opacification and thinning of the cornea.

Epidemiology: Keratoconus is the most frequently encountered deformation of the cornea. Occurrence is familial, although women are more likely to be affected than men.

Etiology: Keratoconus is probably a genetic disorder. It can occur in families with varying paths of hereditary transmission. Occasionally keratoconus is associated with trisomy 21 syndrome (Down syndrome) as well as with atopic dermatitis and other connective-tissue disorders such as Marfan's syndrome.

Symptoms: The clinical course of the disorder is episodic; the increasing protrusion of the cornea usually produces bilateral irregular myopic astigmatism (see Fig. 5.3b). Left untreated, in rare cases keratoconus can cause tears of Descemet's membrane due to the continuous stretching. The entire cornea can then bulge out at this site. This is referred to as acute keratoconus. Symptoms of acute keratoconus include sudden loss of visual acuity accompanied by intense pain, photophobia, and increased tearing.

Diagnostic considerations: The diagnosis is usually made with a kerato-scope or ophthalmometer (reflex images will be irregular). The examiner can also detect keratoconus without diagnostic aids by standing behind the patient and pulling the patient's upper eyelids downward. The conical protrusion of the surface of the cornea (Fig. 5.5) will then be readily apparent due to the deformation of the margin of the eyelid (Munson's sign).

Treatment: Degeneration of visual acuity can usually be corrected initially with eyeglasses; hard contact lenses will be required as the disorder progresses. However, after a certain point, the patient repeatedly will lose the contact lenses. Then the only possible treatment is penetrating keratoplasty (transplantation of a corneal graft from a donor into the patient's cornea).

Prognosis: The prognosis for penetrating keratoplasty in treating keratoconus is good because the cornea is avascular in keratoconus.

Fig. 5.5 The conical deformation of the cornea is episodic and usually produces bilateral ir regular myopic astigmatism (see also Fig. 5.3b).

Fig. 5.5 The conical deformation of the cornea is episodic and usually produces bilateral ir regular myopic astigmatism (see also Fig. 5.3b).

— Keratoglobus.

Fig. 5.6 The congenital deformation results in hemispherical protrusion that can lead to myopia.

5.3.1.2 Keratoglobus

Very rare disorders include keratoglobus, a congenital deformation resulting in hemispherical protrusion (Fig. 5.6) that tends to produce myopia, and flattening of the cornea (cornea plana) that tends to produce hyperopia.

5.3.2 Corneal Size Anomalies (Microcornea and Megalocornea)

Corneal size anomalies are usually congenital and on the whole are rare. An abnormally small cornea (microcornea) has a diameter less than 10.0 mm). It usually causes severe hyperopia that in advanced age often predisposes the patient to angle closure glaucoma (see Table 10.2, p. 236). An abnormally large cornea (megalocornea) may be as large as 13 -15 mm. Corneal enlargement in the newborn and infants may be acquired due to increased intraocular pressure (buphthalmos). Combinations of microcornea and megalocornea together with other ocular deformities may also occur.

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