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Keratoconus

Synonyms of Keratoconus

  • Conical Cornea
  • KC

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Keratoconus is a non-inflammatory eye (ocular) condition characterized by progressive changes of the shape of the cornea. The cornea is the thin-walled, "dome-shaped" transparent region forming the front of the eyeball; it serves as a protective covering and helps to focus or bend (refract) light waves onto the retina at the back of the eye. In those with Keratoconus, slowly progressive thinning of the cornea causes it to protrude forward in a conical shape, leading to blurry vision and other vision problems. Keratoconus often begins at puberty. Although the specific underlying cause of the condition is unknown, investigators indicate that genetic factors may play some role. In addition, in some cases, Keratoconus may occur in association with a variety of other disorders.

Symptoms

As noted above, Keratoconus is characterized by slowly progressive thinning and conical projection of the cornea. Both corneas are usually affected (bilateral), although the progression and severity of the condition in each eye may differ. The abnormal conical shape leads to changes in the ability of the cornea to help focus visual images appropriately on the retina (i.e., refractive abnormalities). (The retina, the innermost membrane at the back of the eye, contains light-responding nerve cells [rods, cones] that convert visual images into nerve impulses, which are conveyed via the optic nerve to the brain.) Keratoconus may initially cause slight blurring of vision and abnormally increased sensitivity to glare. With progressive corneal changes, affected individuals develop increasing nearsightedness (myopia) and progressive distortion of vision (astigmatism). Visual abnormalities associated with Keratoconus often become apparent during adolescence or young adulthood.

Causes

The specific underlying mechanism(s) responsible for Keratoconus remain unknown. The condition may occur as an isolated abnormality or be associated with certain underlying disorders (see below).

In some cases, Keratoconus appears to occur randomly for unknown reasons (sporadically) without an apparent family history. In other instances, the condition has affected more than one family member, suggesting that genetic factors may play some role. According to some investigators, certain familial cases may suggest autosomal dominant or autosomal recessive transmission or may represent multifactorial inheritance. Human traits, including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother.

In autosomal dominant disorders, a single copy of the disease gene (received from either the mother or father) may be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

In autosomal recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.

In disorders with multifactorial inheritance, the condition may arise due to the interaction of several genes, possibly in association with certain non-genetic (e.g., environmental) factors.

As noted above, Keratoconus may also sometimes occur in association with certain underlying disorders, such as Leber's Congenital Amaurosis, Down Syndrome, Ehlers-Danlos Syndrome, or Marfan Syndrome. (For additional information on these disorders, please choose the appropriate name as your search term in the Rare Disease Database or see the "Related Disorders" section of this report below.)

Affected Populations

Keratoconus tends to occur more often among adolescents than adults. One long-term study in the United States indicated a prevalence rate of 54.5 diagnosed cases of Keratoconus per 100,000 population. Involvement was limited to one eye in forty one percent of patients at the time of diagnosis, and both eyes were affected in 59 percent.

Related Disorders

Symptoms of the following disorders can be similar to those of Keratoconus. Comparisons may be useful for a differential diagnosis:

Bullous Keratopathy is a condition caused by excessive fluid accumulation in the cornea, and is thought to be the result of deterioration of the inside layer of the cornea which comes from aging. Symptoms may increase after surgery for cataracts. Fluid-filled blisters (bullae) on the corneal surface rupture, causing pain and impaired vision.

Interstitial Keratitis, also known as Parenchymatous Keratitis, is a chronic nonulcerative infiltration in the deep layers of the cornea of the eye, with inflammation in the part of the eyeball known as the uvea. Although this disorder is rare in the U.S., cases can occur in children as a late complication of congenital syphilis. One eye may be involved initially, but symptoms affect both eyes in time. In very rare cases, acquired syphilis or tuberculosis may lead to a form of Interstitial Keratitis among affected adults. Usually only one eye is affected in this form of the disorder. Light sensitivity (photophobia), pain, excessive tearing (lacrimation), and gradual loss of vision are common. Blisters begin in deep corneal layers, and eventually the entire cornea develops a ground glass appearance, obscuring the iris. New blood vessels grow and produce orange-red areas. Inflammation of the iris and choroid areas of the eyeball occur. Symptoms may subside after one or two months, but some vision impairment may remain even when the cornea clears completely.

The following disorders may be present in conjunction with Keratoconus. They can be useful in identifying an underlying cause of some forms of this disorder:

Leber's Congenital Amaurosis is a painless genetic optic nerve disorder. Progressive marked loss of central vision in one or both eyes is the primary symptom, which is determined by the amount of inflammation and resultant atrophy of the optic nerves. Normal optic disks and a congenital absence of light gathering bodies (rods and cones) of the retina occur initially, followed much later by swelling of the optic nerve head. There are no early changes in the optic nerves, blood vessels or retinas. Later, an absence or reduction of electrical activity of the retina is observed. This progressive disorder may also be transitional and overlapping with other similar diseases. Some cases may be complicated by Keratoconus, Retinitis Pigmentosa, Ophthalmoplegia, nerve deafness, or mental deterioration. (For more information on this disorder, choose "Leber" as your search term in the Rare Disease Database.)

Down Syndrome is the most common and readily identifiable genetic condition associated with mental retardation. It is caused by a chromosomal abnormality. One additional chromosome is present in each cell and this extra genetic material changes the orderly development of the body and brain. Keratoconus may occur in conjunction with Down Syndrome. (For more information on this disorder, choose "Down" as your search term in the Rare Disease Database.)

Ehlers-Danlos Syndrome is an inherited connective tissue disorder. It is characterized by the ability of patients to flex their bodies beyond the normal range (articular hypermobility), to abnormally stretch their skin (hyperelasticity of the skin), and widespread tissue fragility; i.e., skin, blood vessels and other tissues can rupture from even minor trauma. Keratoconus may occur in conjunction with this disorder. (For more information on this disorder, choose "Ehlers-Danlos" as your search term in the Rare Disease Database.)

Marfan Syndrome is an inherited condition, classified as a connective tissue disorder, that primarily affects the bones and ligaments (the skeletal system), the eyes, the cardiovascular system, and the lungs. People with Marfan Syndrome are unusually tall, have long arms and legs, and often have vision problems. Keratoconus may occur in conjunction with this disorder. (For more information on this disorder, choose "Marfan" as your search term in the Rare Disease Database.)

Standard Therapies

Diagnosis
Keratoconus may be diagnosed based upon a complete patient and family history and thorough eye examination. Such examination may include evaluation of the external appearance of the eyes, visual acuity, eye movements, and visual fields; the use of an illuminated microscope to view internal structures of the front of the eyes (slit-lamp examination); and/or additional diagnostic assessments.

Treatment
In some individuals with Keratoconus, vision may be improved with the use of appropriate eyeglasses or contact lenses. However, progressive changes in vision often necessitate frequent prescription changes.

Evidence suggests that appropriate contact lenses may often provide more effective visual correction and thus should be considered when eyeglasses are not sufficient. However, some affected individuals may not be able to wear contact lenses due to progressively severe corneal thinning, corneal scarring, and/or contact intolerance. In cases of severe visual deterioration in which contact lenses cannot sufficiently correct vision or are not tolerated, corneal transplantation may be required. A corneal transplant is a surgical procedure in which abnormal corneal tissue is removed and replaced with healthy donor corneal tissue.

Genetic counseling may be of benefit for individuals with Keratoconus and their families. Other treatment for the condition is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Keratoconus Resources

Organizations:

References

TEXTBOOKS
Beers MH, et al., eds. The Merck Manual. 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:722.

JOURNAL ARTICLES
Zadnik K, et al. Corneal scarring and vision in keratoconus: a baseline report from the Collaborative Longitudinal Evaluation of Keratoconus (CLEK) Study. Cornea. 2000;19:804-12.

Wang Y, et al. Genetic epidemiological study of keratoconus: evidence for major gene determination. Am J Med Genet. 2000;93:403-09.

Olson RJ, et al. Penetrating keratoplasty for keratoconus: a long-term review of results and complications. J Cataract Refract Surg. 2000;26:987-91.

Schmitt-Bernard C, et al. Keratographic analysis of a family with keratoconus in identical twins. J Cataract Refract Surg. 2000;26:1830-32.

Rabinowitz YS, et al. Molecular genetic analysis in autosomal dominant keratoconus. Cornea. 1992;11:302-08.

McDonnell PJ, et al. Electrosurgical keratoplasty. Clinicopathologic correlation. Arch Ophthalmol. 1988;106:235-38.

Ihalainen A. Clinical and epidemiological features of keratoconus: genetic and external factors in the pathogenesis of the disease. Acta Ophthal Suppl. 1986;178:1-66.

Kennedy RH, et al. A 48-year clinical and epidemiologic study of keratoconus. Am J Ophthalmol. 1986;101:267-73.

FROM THE INTERNET
Online Mendelian Inheritance in Man, OMIM (TM). John Hopkins University, Baltimore, MD. MIM Number 148300; 8/29/00. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?148300.

Online Mendelian Inheritance in Man, OMIM (TM). John Hopkins University, Baltimore, MD. MIM Number 244500; 2/19/94. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?244500.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2008/05/24 00:00:00 GMT+0

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