Essential iris atrophy is a very rare, progressive disorder of the eye characterized by a pupil that is out of place and/or distorted, areas of degeneration on the iris (atrophy), and/or holes in the iris. This disorder most frequently affects only one eye (unilateral) and develops slowly over time. Attachment of portions of the iris to the cornea (peripheral anterior synechiae) and/or abnormalities in the cornea may lead to secondary glaucoma and vision loss.
Essential iris atrophy is one of three iridocorneal endothelial (ICE) syndromes, each of which usually affects one eye of young to middle-aged men and women. The ICE syndromes (essential iris atrophy, Chandler syndrome, and Cogan-Reese syndrome) are distinct from one another. However, these disorders all affect the eye. Some of their symptoms overlap, making it difficult to distinguish between them.
Major symptoms of essential iris atrophy may include a displaced and/or distorted pupil, patchy areas of degeneration (atrophy) on the iris, and/or holes in the iris. The edge of the pupil may turn outward (ectropion uveae). The onset of this disorder is gradual, and the changes in the shape and placement of the pupil are usually noticed before any change in vision occurs. Degeneration and holes in the iris may develop over a period of several years.
Other features of essential iris atrophy may include the attachment of portions of the iris to the cornea (peripheral anterior synechiae), swelling of the cornea (corneal edema), and/or abnormalities in the cells lining the cornea (corneal endothelium). These changes may lead to increased pressure in the eye (glaucoma) and vision loss. .
The cause of essential iris atrophy or any other of the iridocorneal endothelial syndromes is not known. They are thought to be the result of the same mechanism and, according to one theory, a particular membrane (the corneal endothelial membrane) is the site of the primary defect. This idea proposes that the primary disorder is of the cells that line the cornea (corneal endothelium), with the impact on the iris and associated glaucoma as secondary or associated disorders.
Other researchers suspect that inflammation or chronic infection may be the cause of the disease. .
Essential iris atrophy is a very rare disorder that is usually recognized in early to middle adulthood and occurs slightly more often among women than among men. .
Symptoms of the following disorders can be similar to those of essential iris atrophy. Comparisons may be useful for a differential diagnosis:
Chandler's syndrome is a rare disorder characterized by increased development in the cells lining the cornea, drying up of the iris, corneal swelling (edema), and unusually high pressure in the eye (glaucoma). This disorder may result in vision loss. The displacement and/or distortion of the pupil characteristic of essential iris atrophy does not occur in Chandler's Syndrome. (For more information on this disorder, choose "Chandler" as your search term in the Rare Disease Database.)
Cogan-Reese syndrome is an extremely rare disorder characterized by loss of iris tissue and the development of small wart-like growths on the iris. Increased pressure within the eye (glaucoma) and corneal swelling (edema) are also evident. This disorder differs from Cogan corneal dystrophy which is inherited as an autosomal dominant disorder. The displacement and/or distortion of the pupil characteristic of essential iris atrophy does not occur in Cogan-Reese syndrome. (For more information on this disorder, choose "Cogan-Reese" as your search term in the Rare Disease Database.)
The following disorders may be associated with essential iris atrophy as secondary characteristics. They are not necessary for a differential diagnosis:
Glaucoma is a common eye disorder that occurs as a secondary disorder to essential iris atrophy. Glaucoma is characterized by increased pressure within the eye. If left untreated the increased pressure may affect the lens and the optic nerve, resulting in eventual blindness. Glaucoma usually occurs for unknown reasons, however, it is more prevalent in people with diabetes. Some symptoms to be aware of are blurred vision, rainbow-colored halos around lights, and loss of side vision (tunnel vision). A simple test can measure the pressure in an individual's eye, and this testing is recommended annually for persons over age forty. Treatment may consist of medicated eye drops. If medication does not resolve the symptoms surgery may be necessary.
Treatment of essential iris atrophy is usually directed to the secondary glaucoma. Eye drops may be used to control the glaucoma and corneal swelling (edema). If these methods are unsuccessful surgery may be indicated. The use of a laser beam to reduce pressure within the eye (trabeculectomy) and corneal transplant (penetrating keratoplasty) are surgical methods that have been used to treat essential iris atrophy. .
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:
Howell DN, Damms T, Burchette JL Jr, et al. Endothelial metaplasia in the iridocorneal endothelial syndrome. Invest Ophthalmol Vis Sci. 1997;38:1896-901.
Huna R, Barak A, Melamed S. Bilateral iridocorneal endothelial syndrome presented as Cogan-Reese and Chandler's syndrome. J Glaucoma;1996;5:60-62.
DeBroff BM, Thoft RA. Surgical Results of penetrating keratoplasty in essential iris atrophy. J Refract Corneal Surg. 1994;10:428-32.
Alvarado JA, Murphy CG, Juster RP, et al. Pathogenesis of Chandler's syndrome, essential iris atrophy and the Cogan-Reese syndrome. II. Estimated age at disease onset. Invest Ophthalmol Vis Sci. 1986;27:873-82.
Alvarado JA, Murphy CG, Maglio M, et al. Pathogenesis of Chandler's syndrome, essential iris atrophy and the Cogan-Reese syndrome. I. Alterations of the corneal endothelium. Invest Ophthalmol Vis Sci. 1986;27:853-72.
FROM THE INTERNET Kaiser P. Iridocorneal Endothelial (ICE) Syndromes. Digital Journal of Ophthalmology (DJO). nd. 2pp. www.djo.hravard.edu/meei/GR/Kaiser120195/Kaiser120195Dx.html
Devine N. (ed.) Monday Night Chat Room. Wills Glaucoma Service & Foundation. Glaucoma. nd. 5pp. www.wills-glaucoma.org/supportgroup/20010917.html
National Association for Visually Handicapped 22 West 21st Street New York, NY 10010 USA Tel: (212)889-3141 Fax: (212)727-2931 Email: staff@navh.org Internet: http://www.navh.org
National Association for Parents of Children with Visual Impairments (NAPVI) P.O. Box 317 Watertown, MA 02472 Tel: (617)972-7441 Fax: (617)972-7444 Tel: (800)562-6265 Email: napvi@perkins.org Internet: http://www.napvi.org
Prevent Blindness America 211 West Wacker Drive Suite 1700 Chicago, IL 60606 Tel: (312)363-6001 Fax: (312)363-6052 Tel: (800)331-2020 Email: info@preventblindness.org Internet: http://www.preventblindness.org
Glaucoma Research Foundation 490 Post Street Suite 1427 San Francisco, CA 94102 Tel: (415)986-3162 Fax: (415)986-3763 Tel: (800)826-6693 Email: info@glaucoma.org Internet: http://www.glaucoma.org
NIH/National Eye Institute Building 31 Rm 6A32 31 Center Dr MSC 2510 Bethesda, MD 20892-2510 United States Tel: (301)496-5248 Fax: (301)402-1065 Email: 2020@nei.nih.gov Internet: http://www.nei.nih.gov/
Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)519-3194 Fax: (240)632-9164 Tel: (888)205-2311 TDD: (888)205-3223 Email: gardinfo@nih.gov Internet: http://www.genome.gov/10000409
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