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DOI: 10.5301/ejo.5000047 Eur J Ophthalmol 2011 ; 00 (00): 000-000 CASE REPORT Association of Cogan-Reese syndrome, exfoliation syndrome, and secondary open-angle glaucoma Gábor Holló1, Péter Kóthy1, Anastasios G.P. Konstas2 1 2 Department of Ophthalmology, Semmelweis University, Budapest - Hungary Department of Ophthalmology, Semmelweis University, Budapest - Hungary Glaucoma Unit, 1st University Department of Ophthalmology, Thessaloniki - Greece Purpose. To present a case with co-existence of Cogan-Reese syndrome and exfoliation syndrome. Case report. A 72-year-old Caucasian woman presented for consultation due to uncontrolled intraocular pressure (IOP) of the right eye. Clinical examination revealed the presence of Cogan-Reese syndrome and exfoliation syndrome OD. This eye exhibited elevated IOP, open anterior chamber angle, advanced glaucomatous optic nerve head damage, and severe glaucomatous visual field loss. The left eye was completely normal without IOP elevation or visual field damage. To our knowledge this is the first case report demonstrating the coexistence of the Cogan-Reese syndrome, exfoliation syndrome, and secondary open-angle glaucoma. Since both syndromes frequently lead to secondary open-angle glaucoma, it is not feasible to determine with certainty which condition was the cause of secondary open-angle glaucoma in our case. It is conceivable that both conditions contributed to glaucoma development. Conclusions. Cogan-Reese syndrome, exfoliation syndrome and secondary open-angle glaucoma may present on the same eye. Key Words. Cogan-Reese syndrome, Exfoliation syndrome, Secondary open-angle glaucoma Accepted: July 28, 2011 INTRODUCTION Cogan-Reese syndrome, or iris nevus syndrome, is a rare eye condition that is clinically unilateral and presents typically in women in the fourth to fifth decade of life (1, 2). The precise etiology of this intriguing condition remains unknown. Based on their similar pathomechanism, CoganReese syndrome, Chandler syndrome, and progressive iris atrophy are considered different but overlapping forms of the iridocorneal endothelial syndrome (ICE syndrome). All forms of ICE syndrome share abnormal endothelial cell formation and migration on the corneal endothelium, anterior chamber angle, and iris (3). This causes corectopia, iris atrophy, iris hole formation, ectropion uveae, and peripheral anterior synechiae associated with progressive iris atrophy; corneal edema, decreased vision, and pain in Chandler syndrome; and pedunculated iris outcroppings similar to true iris nevi, pleomorphism and polymegathism of the corneal endothelial cells, and anterior synechiae formation in Cogan-Reese syndrome (1, 2). The alterations of the corneal endothelial cells cause the typical hammered silver or gray appearance of the cornea upon slit-lamp examination. The nevus-like appearance of the iris outcroppings is caused by the contraction of the proliferating endothelial membrane, thus the name attributed to the condition iris nevus syndrome is a misnomer. Separation of Cogan-Reese syndrome from true iris nevi, or melanoma, may cause a differential diagnostic problem in clinical practice. Secondary glaucoma due to the blockage of aqueous humor outflow by the proliferating membrane over the anterior chamber angle develops in approximately half of cases with Cogan-Reese syndrome (4). Thus, formation of peripheral anterior synechia is not necessary to the development of © 2011 Wichtig Editore - ISSN 1120-6721 1 Association of Cogan-Reese syndrome, XFS, and OAG Fig. 1 - Low magnification biomicroscopic appearance of the right eye prior to pupil dilatation. Ectropion uveae, irregular, nevuslike, dark iris area caused by pedunculated iris outcroppings, and “hammered silver like” appearance of the nasal cornea are seen. These are all typical signs of Cogan-Reese syndrome. Fig. 2 - Higher magnification slit-lamp appearance of the right eye prior to pupillary dilatation. The pedunculated iris outcroppings are clearly visible around the area of the uveal ectropion. raised intraocular pressure (IOP) and severe secondary glaucoma. Exfoliation syndrome (XFS) is a genetically determined, common but frequently undetected eye disorder of the elderly (5-7). Exfoliation syndrome is caused by systemic and ocular synthesis and accumulation of a white pathologic extracellular protein called exfoliation material (6). The accumulated exfoliation material in the anterior segment of the eye is usually discerned after pupillary dilatation. Exfoliation material is gradually deposited upon the anterior lens surface, the pupillary margin, the zonules, and less frequently the anterior chamber angle (8). Exfoliation material and pigment granules are transferred by aqueous humor and deposited on the chamber angle, where they can block aqueous humor outflow (9). The clinical appearance of the anterior chamber angle in XFS is characterized by wavy pigmented lines anterior to Schwalbe line (Sampaolesi line), pigment deposition in the meshwork, and occasionally exfoliation material aggregates. Due to the blockage of the trabecular outflow system by pigment granules and exfoliation material deposits, XFS frequently leads to secondary openangle glaucoma (exfoliative glaucoma [XFG]). Exfoliative glaucoma is a severe, painless glaucoma in which IOP is frequently highly elevated (9). In clinical practice, XFG frequently remains unrecognized or misdiagnosed with primary open-angle glaucoma (9). Though the exfoliation material is morphologically present in both eyes (6, 10), clinically both XFS and XFG are often unilateral (11). In many XFG cases, one eye is normal on clinical examination, while the fellow eye has severe glaucomatous damage. To our knowledge, association of Cogan-Reese syndrome, exfoliation syndrome, and secondary open-angle glaucoma has not been previously reported. 2 Case report A 72-year-old Caucasian woman was diagnosed with an iris nevus of the right eye, and was treated for glaucoma in that eye with brinzolamide 1% eyedrops twice daily. A mild blunt head injury 5 years earlier and surgical excision of a pigmented skin lesion from the right leg were the only evidence reported in the patient’s past medical history. Best-corrected visual acuity was 0.9 OD and 1.0 OS. After washout from topical IOP-lowering medication, diurnal IOP varied between 19 and 24 mmHg OD and 12 and 14 mmHg OS. The peak IOP value OD was measured at 8 am. The right optic nerve head showed severe diffuse glaucomatous cupping (vertical cup/disc ratio: 0.9). There was severe © 2011 Wichtig Editore - ISSN 1120-6721 Holló et al Fig. 3 - Following pupillary dilation, the central disc of exfoliation material (arrows) is clearly visible. Fig. 4 - Following pupillary dilation, typical deposits of whitish exfoliation material are seen upon the pupillary margin (arrows). retinal nerve fiber layer thinning documented with scanning laser polarimetry and Fourier-domain optical coherence tomography, and severe glaucomatous visual field damage in that eye. In contrast, the optic nerve head, retinal nerve fiber layer, and visual field of the left eye were normal. The central cornea thickness was 566 µm in both eyes. On slit-lamp examination prior to pupillary dilation, ectropion uveae, an irregular, nevus like, dark iris area, and hammered silver–like cornea tissue were seen in the nasal quadrant of the right eye (Fig. 1). Using higher magnification, the pedunculated iris outcroppings (typical for Cogan-Reese syndrome) became clearly visible in the area of the uveal ectropion (Fig. 2). Following pupillary dilation, the typical central disc of exfoliation material deposition on the anterior lens capsule (Fig. 3) and exfoliation material aggregates on the pupillary margin of the iris (Fig. 4) became visible. Gonioscopy revealed a wide open anterior chamber angle with the characteristic Sampaolesi line and a pigmented meshwork typically seen in eyes with exfoliation. The anterior segment and the chamber angle of the left eye were normal with no clinical evidence of exfoliation or ICE syndrome. The coexistence of Cogan-Reese syndrome, XFS, and secondary open-angle glaucoma OD was documented in our case. Treatment was changed to evening-administered latanoprost 0.005% drops OD, in order to reach the target IOP range. Using this medication, a 30% IOP decrease was recorded with a diurnal curve and the highest pressure reading below 18 mmHg. DISCUSSION Recognition of the Cogan-Reese syndrome and differentiation from true iris nevi, or iris melanoma, are of clinical importance. Although the iris alterations in CoganReese syndrome are similar in appearance to true nevi of the iris, their characteristics are easily distinguished with careful slit-lamp examination under high magnification (1, 2). Importantly, in our case both Cogan-Reese syndrome and unilateral XFS were present in the same eye. To our knowledge, this is the first case with reported coexistence of these conditions. Since both conditions frequently lead to secondary open-angle glaucoma (1, 5, 9), it is not possible to determine with certainty in our case which condition is the cause of IOP elevation and consequently of secondary open-angle glaucoma. Indeed, it is conceivable that both syndromes have contributed to glaucoma development, since glaucomatous damage was severe and diurnal IOP level was not as high as generally seen in advanced cases with XFG. Since Cogan-Reese syndrome develops typically in the fifth decade and XFS appears in the sixth decade of life, it is feasible that in our 72-year-old patient the initial IOP elevation was a consequence of CoganReese syndrome and then damage was compounded by the presence of exfoliation. Gábor Holló is a consultant of Alcon, Allergan, MSD, Pfizer, Santen, Zeiss, and Optovue. Peter Kóthy declares that he has no competing interest. A.G. Konstas is a consultant of Alcon, Allergan, MSD, and Pfizer. © 2011 Wichtig Editore - ISSN 1120-6721 3 Association of Cogan-Reese syndrome, XFS, and OAG 4. Address for correspondence: Gábor Holló, MD, PhD, DSc Department of Ophthalmology Semmelweis University Tömö u. 25-29 1083 Budapest Hungary [email protected] REFERENCES 1. 2. 3. 4 Piltz-Seymour J, Uhler TA. Other secondary glaucomas. In: Shaarawy TN, Sherwood MB, Hitchings RA, Crowston JG, eds. Glaucoma, volume 1. Philadelphia: Elsevier; 2009: 419-30. Shields B, Bourgeois J. Glaucoma associated with primary disorders of the corneal endothelium. In: Ritch R, Shields MB, Krupin T, eds. The Glaucomas, vol 2, 2nd ed. St Louis: Mosby; 1996: 957-74. Eagle RC Jr, Font RL, Yanoff M, Fine BS. Proliferative endotheliopathy with iris abnormalities: the iridocorneal endothelial syndrome. Arch Ophthalmol 1979; 97: 2104-11. Laganowski HC, Kerr Muir MG, Hitchings RA. Glaucoma and the iridocorneal endothelial syndrome. Arch Ophthalmol 1992; 110: 346-50. 5. Ritch R, Schlötzer-Schrehardt U. Exfoliation syndrome. Surv Ophthalmol 2001; 45: 265-315. 6. Ringvold A. Epidemiology of exfoliation syndrome and exfoliative glaucoma. In: Holló G, Konstas AGP, eds. Exfoliation Syndrome and Exfoliative Glaucoma. Savona: Dogma; 2008: 27-31. 7. Thorleifsson G, Magnusson KP, Sulem P, et al. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science 2007; 317: 1397-400. 8. Thygesen J. Ocular clinical findings in exfoliation syndrome. In: Holló G, Konstas AGP, eds. Exfoliation Syndrome and Exfoliative Glaucoma. Savona: Dogma; 2008: 105-12. 9. Irkec M. Clinical features of exfoliative glaucoma. In: Holló G, Konstas AGP, eds. Exfoliation Syndrome and Exfoliative Glaucoma. Savona: Dogma; 2008: 117-22. 10. Schlötzer-Schrehardt UM, Koca MR, Naumann GOH, Volkholz H. Pseudoexfoliation syndrome: ocular manifestation of a systemic disorder? Arch Ophthalmol 1992; 110: 1752-6. 11. Puska P. Development of exfoliative glaucoma. In: Holló G, Konstas AGP, eds. Exfoliation Syndrome and Exfoliative Glaucoma. Savona: Dogma; 2008: 97-100. © 2011 Wichtig Editore - ISSN 1120-6721