Murtaza Sameen Junejo, et al
hypoplasia and corectopia was described in 19346.
ARS includes a group of disorders and is divided into
three subgroups; Axenfeld anamoly is characterized by
a prominent, anteriorly displaced Schwalbe line called
posterior embryotoxon and prominent iris strands
extending from the peripheral iris to this line. Rieger
anomaly includes the condition with central iris
changes like stromal hypoplasia and irregular-shaped
pupils along with features mentioned in Axenfeld
anomaly. Rieger syndrome includes Rieger anomaly
associated with systemic features7. The diagnosis of
Axenfeld-Rieger syndrome was made as he presented
with ocular anomalies of Rieger anomaly together with
systemic anomalies. Thus, since 1985 the term ARS
has been used clinically1, and Ozeki et al8 reported that
Rieger anomaly accounted for 10%, Axenfeld anomaly
accounted for 71%, while Rieger syndrome covered
19% cases of ARS. However, we have seen that most
of the ARS cases are sharing an overlap of features
within this spectrum so that the delineation of each of
these is not clear.
A convincing conclusion is still awaited about
prognosis of this disease in Pakistani population.
Limitation of this case report is that we had not yet
obtained the ocular and physical examinations from
his father and sister, and gene analysis could not be
performed.
Conflict of Interest
There is no conflict of interest between authors and on
funding.
Author Designation and Contribution
Rebecca; Postgraduate Resident: Data collection,
literature review, final review
Murtaza Sameen Junejo; Senior Registrar: Data
collection, Manuscript writing, literature review.
Syed Jamil; Assistant Professor: Literature review and
final review
Sameen Afzal Junejo; Professor: Literature review and
final review
Apart from such considerations, other unusual
ocular anomalies have also been reported. Two cases
were reported by Espana et al9 and Parikh et al10 with
different presentation of detached Schwalbe line
suspended in anterior chambers. Schwalbe line
originates from neural crest cells, due to which
impaired development is related to the pathogenesis of
ARS9. Hypoplasia of extraocular muscles derived from
mesodermal complex also appeared in ARS. Retinal
detachment have also been reported in few cases of
ARS. Glaucoma Drainage devices are very useful
adjunct for the treatment of refractory glaucoma.
However, these devices come with an array of
potential serious complications10. The most common
delayed complication is exposure of the tube overlying
eroded conjunctiva10. In our study, we also used
Glaucoma Drainage device in the right eye which
improved the vision of patient and reduced intraocular
pressure.
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About 50% of ARS patients develop glaucoma.
With a 20-year follow-up, Mandal and Pehere showed
the safety and effectiveness of trabeculotomy and
trabeculectomy for ARS children with early-onset of
glaucoma. In the present case report, the patient was
referred to maxillofacial surgeon.
8. Ozeki H, Shirai S, Ikeda K, Ogura Y. Anomalies
associated with Axenfeld-Rieger syndrome. Graefes
Arch Clin Exp Ophthalmol. 1999; 237: 730–4.
9. Espana EM, Mora R, Liebmann J, Ritch R. Bilateral
prominent schwalbe ring in the anterior chamber in a
In summary, ARS is a rare disorder, the ocular
manifestations may be vision threatening, therefore a
regular and long term follow up by an ophthalmologist
is necessary.
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Pakistan Journal of Ophthalmology, 2020, Vol. 36 (2): 173-176