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Advanced Glaucoma as a Late Manifestation in Axenfeld-Rieger Syndrome

Olly Congga, Marliyanti Akib, Andi Tenrisanna Devi, Noor Syamsu, Noro Waspodo
Department of Ophthalmology, Faculty Of Medicine, Hasanuddin University
Hasanuddin University Teaching Hospital, Makassar


Objective: To report a case of advanced glaucoma in Axenfeld-Rieger syndrome.

Methods: Observational, case-report.
Case-Report: A nine-year old girl with Axenfeld-Rieger syndrome presented to our outpatient
clinic with blurred vision in both eyes since the last 3 years. History of protruding eyes felt since
last 12 months. Previous treatment in other center was timolol maleate 0.5% drops twice daily in
both eyes for 2 weeks. On ophthalmology examination, we performed visual acuity examination,
Perkins tonometry, slit-lamp biomicroscopy, gonioscopy, funduscopy, and biometry.
Discussion: Abnormal iris presentation include polycoria and diffuse stromal iris atrophy
coexisted with hypoodontia and redundant periumbilical skin consistent with Axenfeld-Rieger
Syndrome. Her intraocular pressures were elevated to 32 mmHg and 30 mmHg on the right and
the left eye, respectively. Axial length were 32 mm and 29,74 mm on the right and the left eye
assessed with biometry. Gonioscopy demonstrated open angle glaucoma in both eyes, showing
posterior embryotoxon and iris strands to Schwalbes line. Funduscopy of both eyes showed
increased cup-to-disc ratio, peripapillary atrophy, and crescent miop.
Conclusion: Glaucoma can be found in patient with Axenfeld-Rieger syndrome. Regular follow
up and throughout examination including intraocular pressures measurement should be evaluated
regularly to prevent blindness due to glaucoma. Early treatment along with amblyopia
management will give better visual outcomes and good prognosis to Axenfeld-Rieger syndrome.
identified on 6p25, disease process, time with blurred
INTRODUCTION 13q14 and 16q24, developing in vision and
As long ago as and 11p13. The roughly 50% of diagnosed as high
1925 a German genes FOXC1 and patients.4 Common myopia and
ophthalmologist, PAX6 at 6p25, and ocular findings in prescribed glasses.
Karl Axenfeld 11p13 respectively Axenfeld-Rieger High intraocular
described congenital have been identified, syndrome involve pressures were
angle anomalies but the others cornea (prominent unnoticed. The
with iris strands, and remain elusive.1,2 schwalbes line), iris optician observed
by 1935 an Austrian Axenfeld abnormalities (mild pupillary
ophthalmologist, Rieger syndrome is atrophy to severe abnormalities
Herwigh Rieger a rare degenerative bilaterally, and
characterised Rieger developmental changes like hole hence suggested the
syndrome as a disorder with both formation, patient to the
dominantly inherited ocular and systemic corectopia and hospital for a
condition involving manifestations. It is ectropionuveae) and definitive diagnosis.
these eye anomalies transmitted by an angle abnormalities Enquiry into past
together with dental autosomal dominant (anterior insertion of ophthalmic history
anomalies. Since mode of inheritance iris, tissue strands revealed that the
then, the description with high bringing the angle patient had been
of similar anterior penetrance and from peripheral iris referred to the
segment dysgenesis phenotypic to prominent hospital at six years
in different families variability. Neural schwalbes line). of age as she had
lead to a series of crest cells form Glaucoma onset pupillarry
clinical large portions of the may not occur until abnormalities, but
classifications ocular anterior childhood, early had not arranged for
describing similar segment, including adulthood, or rarely, further follow up.
conditions, for the iris stroma, late adulthood; There was no past
example, Rieger cornea, and therefore, long-term medical history or
syndrome, structures of the clinical monitoring family history of
iridogoniodysgenesi iridocorneal angle. is necessary in these note. Two weeks
s, iris hypoplasia, In Axenfeld-Rieger patients.3,4,5 prior to first
Rieger anomaly, syndrome, We report a admission in our
Axenfeld anomaly, maldevelopment and case of a 9-year-old outpatient clinic, she
glaucoma failed regression of Indonesian girl went to the nearest
iridogoniodysplasia, neural crests cells diagnosed with ophthlamologist in
and Axenfeld result in abnormal extreme myopia and district area and
Rieger anomaly. cell retention in the secondary glaucoma given Timolol 0.5%
About 80 years after anterior segment of before the diagnosis eye drop BID for
it was first the eye.2,3 Abnormal of Axenfeld-Rieger both eyes.
described, Elena cells that are present syndrome is
Semina et al along the anterior established.
characterised the chamber angle
first gene mutations impede aqueous CASE-REPORT
causing dominantly drainage through the A nine-year old girl,
inherited Rieger trabecular was referred to
syndrome in the meshwork and outpatient clinic for
PITX2 gene on Schlemm canal. blurred vision in
chromosome 4q25.1 Consequently, both eyes. She
At least four other glaucoma is an presented to an
gene loci have been inherent risk of the optician for the first
spectacle correction.
Figure 1. Gonioscopy Streak Intraocular pressures
with Goldmann lens of retinoscopy revealed were measured by a
the left eye showing -14 sph -0.5 cyl, on Perkins tonometer at
anteriorly displaced the right and -21 sph 32 mmHg and 30
Schwalbes line (thin
-0.25 cyl on the left. mmHg in the right
arrow) and
iridocorneal strands to
Her visual acuity is and left eye,
Schwalbes line (thick counting finger on respectively.
arrow). both eyes and did Corneal diameter of
not improve with 11.0 x 11.0 mm and
10.0 x 11.0 mm in anterior eye segment configuration with a
the right and left on the right eye Figure 3. Gonioscopic protruding lower lip
eye, respectively. showed prominent photographs on the and paraumbilical
schwalbes line left eye demonstrating skin tags (Figure 5).
(posterior open angle glaucoma. In addition
Figure 2. Diffuse embryotoxon) and microdontia,
stromal iris atrophy iridocorneal strands Funduscopy hypoplasia, and
with polycoria to Schwalbes line examination showed partial anodontia
(Figure 1), increased cup-to- were present (Figure
The axial length polycoria, and disk ratio, 6).
measurement by diffuse iris stromal peripapillary
means of acoustic hypoplasia as well atrophy, and
biometry resulted in as her left eye crescent miop Figure 4. Fundus
an ocular length of (Figure 2). appearance in both photograph of the left
32.00 mm on the Gonioscopy eyes (Figure 4). optic nerve depicting
right eye, and 29.74 revealed open Non-ocular an enlarged cup-to-
mm on the left eye. angles in left eye abnormalities disk ratio with
On slit lamp consisted of a peripapillary atrophy,
(Figure 3). and crescent miop.
examination, the characteristic facial
A diagnosis of discharge. We managed to dysgenesis
Axenfeld-Rieger Trabeculectomy establish a diagnose associated with
syndrome was procedure on her of advanced advanced glaucoma
made. The condition fellow eye glaucoma regarding in a late
was diagnosed performed two to this patients manifestation.
based upon findings weeks later. ocular Glaucoma is a
from biomicroscopic However, the IOP abnormalities. severe eye disease
and gonioscopic slightly decrease but Knowing that that is the result of
evaluation. The her visual acuity secondary glaucoma retinal ganglion cell
intraocular pressure could not be may develop loss usually
was controlled with improved compared approximately 50% associated with
topical beta-blocker. with her left eye. of cases in middle or increased intraocular
A week later, the The patient remains late childhood,4-5,8 pressure.9
trabeculectomy under close follow the signs and
surgery performed up at the Eye Centre symptoms she had
on the left eye. The of Hasanuddin which were
surgery was University Teaching confirmed by
succeeded as the Hospital, Makassar. physicians in our
IOP decreased to 17 clinic referred this
mmHg before anterior segment

Prior to the
progression of
advanced glaucoma,
the intial
pathophysiology of
her glaucoma
DISCUSSION derived from
common Schwalbe line), with of these conditions trabecular
The lamellae
complication from the remainder of the under the single and
intraocular eventually
an incomplete cornea being diagnostic term of separate
she had tofor create
development of the normal. Iridocorneal Axenfeld-Rieger the originated
was intertrabecular
trabecular adhesions to the syndrome. spaces.
the misalignment
In the
meshwork and Schwalbe line range Axenfeld-Riege
anterior segment
Schlemm canal, from threadlike to syndrome,
structures, there
affecting the broad bands of iris Figure 5. Redundant appears
especially to the
aqueous outflow tissue.8 The iris itself periumbilical skin variable degrees of
facility.3,10-11 markedly atrophic developmentalofarrest
develompent the
Irrespective of with corectopia, In normal in this sequence.
structures that form By
glaucoma, the hole formation, and embryogenesis, the transmission
the conventional
typical corneal stromal iris atrophy. trabecular electron microscopy,
aqueous outflow
abnormality we Dental abnormalities meshwork and the
pathway. trabecular
found by and periumbilical Schlemm's canal endothelialorigincells
common of
gonioscopy on both skin were found. In presumably begin as were frequently
Schwalbe's line seen
eyes was a posterior view of the above a compact mass of to stroma
iris join fromadjacent
embryotoxon (a observations, the cells, which produce connective
neural crest cells
prominent and physician has found the connective tissue cores, toobliterating
thought be due to
anteriorly displaced it useful to place all cores of the the intertrabecular
regression of tissues outflow of aqueous Axenfeld-Rieger area and oligodontia
and/or failure in humour was syndrome. Neural are common. Most
differentiation, accumulated in crest cells are often, the maxillary
which results in anterior chamber responsible for deciduous and
distortions of and progressively initiating permanent incisors
normal iridocorneal extended to craniofacial, dental and second
angle anatomy. The posterior chamber, and ocular premolars are
anterior chamber sharing compression development. This missing. The crowns
angle is open and to all of structure. results in of the anterior teeth
gonioscopy shows The weakest part of underdeveloped can be conical or
an anterior insertion posterior chamber, associated neural peg-shaped. Roots
of the peripheral iris the optic nerve, had crest tissues, i.e. the may be shortened,
onto the trabecular the most pressure dental and facial gingival attachments
meshwork. 6,11 back and forth. Thus bones.Inspection of may be reduced and
The globe of the cup and disc the oral cavity may enamel may be
the eye in children is ratio became show microdontia, hypoplastic, all
not as rigid as we glaucomatous and it hypodontia, contributing to poor
have in adult. It is drew the closer oligodontia and a dental health.6,12
naturely elastic. As a retinal layer as we thickened frenulum.
result, it can bear can see in figure 4. In a study by Ozekis
any pressure inside Associated in 1999, 43% of Figure 6.
and decompensates craniofacial patients with Microodontia,
by elongating the abnormalities that Axenfeld-Rieger hypoodontia and
globe structure as it consist of tissues of syndrome had dental oligodontia.
describes the neural crest origin anomalies, while
patophysiology of have long been 25% had facial Other features
advanced glaucoma recognised and can anomalies. that have been
in this case. Initially, assist in making the Underdevelopment reported in
the incomplete diagnosis of of the premaxillary association with the
Axenfeld-Rieger glaucoma associated Axenfeld-Rieger December-2012;
syndrome include with Axenfeld- syndrome. Volume-1; Issue-
redundant Rieger syndrome. 2; 73-74.
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