Cogan Reese Syndrome

Disease Overview

Cogan-Reese syndrome is an extremely rare eye disorder characterized by a matted or smudged appearance to the surface of the iris; the development of small colored lumps on the iris (nodular iris nevi); the attachment of portions of the iris to the cornea (peripheral anterior synechiae); and/or increased pressure in the eye (glaucoma). Secondary glaucoma may lead to vision loss. This disorder most frequently appears in young and middle-aged females, usually affecting only one eye (unilateral) and developing slowly over time.

Cogan-Reese syndrome is one of the iridocorneal endothelial (ICE) syndromes, all of which usually affect one eye of young to middle-aged women. The ICE syndromes (essential iris atrophy, Chandler’s syndrome, and Cogan-Reese syndrome) are distinct from one another. However, since these disorders all affect the eye and some of their symptoms overlap, it may be difficult to distinguish between them. These variants may represent different stages of one disease. (For more information on Chandler’s syndrome and essential iris atrophy, see the Related Disorders section of this article.)

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Synonyms

ICE Syndrome, Cogan-Reese Type
iridocorneal endothelial (ICE) syndrome, Cogan-Reese type
iris naevus syndrome
iris nevus syndrome

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Signs & Symptoms

Major characteristics of Cogan-Reese syndrome include a matted or smudged appearance to the surface of the iris (nevus), yellow or brown lumps or nodules on the iris (nodular iris nevi), the attachment of portions of the iris to the cornea (peripheral anterior synechiae), and increased pressure in the eye (glaucoma). The development of Cogan-Reese syndrome is gradual, and may be preceded by symptoms of essential iris atrophy and/or Chandler’s syndrome. The matted appearance of the iris and development of nodules on the iris distinguish Cogan-Reese syndrome from the other iridocorneal endothelial syndromes.

Other features of Cogan-Reese syndrome may include swelling of the cornea (corneal edema) and/or abnormalities in the cells lining the cornea (corneal endothelium). These changes may be responsible for the glaucoma that is characteristic of this disorder. Glaucoma may lead to vision loss. The edge of the pupil may turn outward (ectropion uveae) and/or a transparent membrane may appear across the surface of the iris.

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Causes

The cause of Cogan-Reese syndrome is not known. Some researchers suspect that inflammation or chronic infection may be the cause of the disease. Others suggest that the primary disorder involves the cells that line the cornea (corneal endothelium), with the impact on the iris as a secondary or associated disorder. Some scientists suggest that the three iridocorneal (ICE) syndromes may represent different stages of one disease process.

There is a hypothesis that ICE syndromes stem from an in-vitro herpes infection localized in the endothelial layer. According to this theory, one eye is infected first and the second eye develops immunity before it can be affected.

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Affected populations

Cogan-Reese syndrome is a very rare disorder that predominantly affects females in the middle adult years, although cases have been reported in children. Most affected individuals are white. The male to female ratio ranges from 1:2 to 1:5. A family history usually shows no other affected family members.

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Disorders with Similar Symptoms

Symptoms of the following disorders can be similar to those of Cogan-Reese syndrome. Comparisons may be useful for a differential diagnosis:

Chandler’s syndrome (CS) is a rare eye disorder in which the endothelium, the single layer of cells lining the inner surface of the cornea, proliferates causing corneal edema, distortion of the iris, and unusually high pressure in the eye (glaucoma). CS is one of three syndromes affecting the eyes (progressive iris atrophy and Cogan-Reese syndrome are the other two) that make up the iridocorneal endothelial syndrome (ICE syndrome). The spectrum is an acquired, unilateral disorder, which typically occurs in early to middle adulthood and predominantly affects women. Chandler’s syndrome is the most commonly encountered clinical variant of this spectrum. (For more information on this disorder, choose “Chandler” as your search term in the Rare Disease Database.)

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. Attachment of portions of the iris to the cornea (peripheral anterior synechiae) and subsequent closure of the drainage angle may lead to secondary glaucoma and vision loss. The colored nodules characteristic of Cogan-Reese Syndrome do not usually appear in essential iris atrophy. (For more information on this disorder, choose “Essential Iris Atrophy” as your search term in the Rare Disease Database.)

Axenfeld’s anomaly is characterized by attachment of portions of the iris to the cornea (peripheral anterior synechiae). Axenfeld’s anomaly is considered to be an inherited, developmental defect, while the iridocorneal syndromes (Cogan-Reese syndrome, Chandler’s syndrome, and essential iris atrophy) are thought to be acquired disorders.

Rieger’s anomaly is characterized by attachment of portions of the iris to the cornea, a distorted pupil, clouding of the edges of the cornea (peripheral corneal opacification), displacement of iris tissue (hypoplasia), and/or secondary glaucoma. When Rieger’s anomaly occurs in association with dental abnormalities (i.e., a decrease in the number of teeth, small teeth, or anodontia) and facial malformations (i.e., displacement of the jaw, flattening of the midface, a receding upper lip and prominent lower lip) it is referred to as Rieger’s syndrome. Rieger anomaly is considered to be an inherited, developmental defect, while the iridocorneal syndromes (Cogan-Reese syndrome, Chandler’s syndrome, and essential iris atrophy) are thought to be acquired disorders. There is some confusion in the medical literature as to whether Axenfeld’s and Rieger’s anomalies are separate disorders or whether they occur together in what is called the Axenfeld-Rieger (A-R) syndrome Of note, A-R syndrome is a bilateral condition, whereas ICE syndrome is usually unilateral.

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Standard Therapies

Secondary Glaucoma and Treatment:

In general, glaucoma is one of the leading causes of blindness in the world.. Glaucoma is characterized by increased pressure within the eye. If left untreated, the increased pressure affects the optic nerve, resulting in eventual blindness. The etiology of glaucoma in unclear and remains an active area of research. The American Academy of Ophthalmology recommends a complete eye exam by the age of 40 or earlier for those at increased risk. Important elements of the examination include visual acuity test, tonometry to measure intraocular pressure, gonioscopy to assess if the drainage angle is open or closed, slit lamp examination to assess the anterior segment of the eye, use of special lenses to examine the optic nerve and posterior segment of the eye, and visual field test to assess the loss of peripheral or central vision.

Glaucoma may occur as a secondary disorder to Cogan-Reese syndrome. The mechanism of glaucoma in ICE syndrome (all three variants) is believed to be related to a cellular membrane secreted by the abnormal endothelial cells. This membrane covers the trabecular meshwork of the drainage angle, thereby obstructing aqueous outflow facility and elevating intraocular pressure. In the early stages, the angle may appear open clinically although it is covered by this transparent membrane. Over time, contraction of this membrane leads to peripheral anterior synechiae and secondary angle closure glaucoma.

Treatment of Cogan-Reese syndrome usually involves the use of drops in the eyes to control the glaucoma and swelling (edema). Mild cases or corneal edema are often managed with soft contact lenses and hypertonic saline solutions. In advanced cases penetrating or endothelial keratoplasty may be required, although the failure rate is high with need for repeat corneal grafts. In some individuals, the corneal edema may be improved with reduction in intraocular pressure. Medical therapy for glaucoma is usually initiated with aqueous suppressants, including beta blockers, alpha-2 agonists and carbonic anhydrase inhibitors. Prostaglandin analogues may be helpful in some cases. Surgical intervention for glaucoma is eventually required in a high percentage of patients with ICE syndrome. The most commonly performed procedure is trabeculectomy, with variable success rates. Glaucoma drainage devices have shown favorable outcomes in a small number of patients, but further studies are warranted to validate these results in a large series. Laser surgery is rarely effective.

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Clinical Trials and Studies

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

For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/

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References

TEXTBOOKS
Durcan FJ. Cogan-Reese Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:644.

Shields MB, Iridocorneal Endothelial Syndromes. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:649.

Kanski JJ. Ed. Clinical Ophthalmology. 4th ed. Butterworth-Heinemann. Oxford, UK; 1999:233-34,323.

Newell FW. Ed. Ophthalmology: Principles and Concepts. 7th ed. Mosby Year Book, St. Louis, MO; 1991:275-76.

JOURNAL ARTICLES
Halhal M, D’hermies F, Morel X, et al. [Iridocorneal endothelial syndrome. Series of 7 cases] J Fr Ophthalmol. 2001;24:628-34. French.

Teekhasaenee C, Ritch R. Iridocorneal endothelial syndrome in Thai patients: clinical variations. Arch Ophthalmol. 2000;118:187-92.

Ozdemir Y, Onder F, Cosar CB, et al. Clinical and histopathologic finding of iris nevus (Cogan-Reese) syndrome. Acta Ophthalmol Scand.1999;77:234-37.

Tester RA, Durcan FJ, Mamalis N, et al. Cogan-Reese syndrome. Progressive growth of endothelium over iris. Arch Ophthalmol. 1998;116:1126-27.

Huna R, Barak A, Melamed S. Bilateral iridocorneal endothelial syndrome presented as Cogan-Reese and Chandler’s syndrome. J Glaucoma. 1996;5:60-62.

Wilson MC, Shields MB. A comparison of clinical variations of the iridocorneal endothelial syndrome. Arch Ophthamol. 1989;107:1465-68.

Makley TA, Kapetansky FM. Iris nevus syndrome. Ann Ophthalmol. 1988;20:311-15.

INTERNET
Cogan-Reese Syndrome. Genetic and Rare Diseases Information Center (GARD). Last update 9/30/2014. https://rarediseases.info.nih.gov/gard/6125/cogan-reese-syndrome/resources/1 Accessed May 26, 2016.

Facts about the Cornea and Corneal Disease. National Eye Institute (NEI). Last Update: May 2013. Available at: https://www.nei.nih.gov/health/cornealdisease/#g Accessed May 27, 2016.

Devine N. ed. ICE Syndrome Chat Highlights. “ICE Syndrome” July 23, 2003. Available at: https://willsglaucoma.org/ice-syndrome-2 Accessed May 27, 2016.

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