Download Association of Cogan-Reese syndrome, exfoliation syndrome, and

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
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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
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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]
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© 2011 Wichtig Editore - ISSN 1120-6721