AUTHOR COMMUNICATION  
Axenfeld-Rieger Syndrome  
in a Pakistani Family  
Rebecca1, Murtaza Sameen Junejo2, Syed Jamil3, Sameen Afzal Junejo4  
1,3Isra University Hospital, 3,4Liaquat University of Medical and Health Sciences, Jamshoro  
ABSTRACT  
A case of 46-year-old male is presented who came with complaints of painless, progressive deterioration of vision  
in both eyes and he was using Latanoprost and Cosopt eye drops in both eyes. His visual acuity was 6/60 in right  
eye and perception of light in left eye. The intraocular pressures were 28 mmHg (OD) and 18mmHg (OS).  
There was iridocorneal adhesion and posterior embryotoxon in his right eye and leucoma in left eye. Cup-disc  
ratio was 0.7. He had hypodontia, midface hypoplasia, hypertelorism, and telecanthus. Family history was also  
positive. His sister also had iris stromal hypoplasia along with posterior embryotoxon. A diagnosis of Axenfeld  
Rieger Syndrome was made The patient underwent glaucoma drainage devise (AGV) surgery in his right eye.  
Post operative pressures were 10 mm Hg. He was later referred to maxillofacial surgeon, cardiologist and  
counseled for avoiding cross marriages to prevent this inherited disease.  
Key Words: Anterior segment dysgenesis, Axenfeld-Rieger syndrome, Corectopia.  
How to Cite this Article: Junejo MS. A Clinical Findings in an Asian Family with Axenfeld-Rieger Syndrome.  
Pak J Ophthalmol. 2020, 36 (2):173-176.  
Doi: 10.36351/pjo.v36i2.974  
Due to developmental anomalies of angle, there is  
increase of outflow resistance and ocular hypertension  
INTRODUCTION  
World-wide prevalence of Axenfeld-Reiger syndrome  
in nearly 50% of the cases, resulting in secondary  
(ARS) is 1:200,000. It is a rare disorder characterized  
glaucoma. In patients with ARS, gene mutations in  
by systemic and ocular anterior segment dysgenesis.  
fork head box protein C1 (FOXC1, chromosomes  
Various overlapping phenotypes, including  
6p25) and pituitary homeobox 2 (PITX2, chromosomes  
Axenfeld anomalies, Rieger anomalies and Rieger  
4q25) encoding transcription have been noted2.  
syndrome are associated with ARS1.  
Another chromosome 13q14 has been reported in ARS  
but its function is still unknown3. Up till now, there  
The posterior embryotoxon, changes in iris stroma  
and anterior chamber angle anomalies are ocular  
manifestations of ARS. In ARS patients, characteristic  
systemic features like dental anomalies including,  
hypodontia, microdontia and oligodontia, umbilical  
have been only few cases reported in Asian  
population.4,5  
In Pakistan ARS is very rare. Our purpose to  
report this case is to familiarize the ophthalmologists  
and health care professionals to counsel the patients  
regarding this disease and its inheritance pattern in  
families and to avoid it by discouraging cross  
marriages.  
anomalies  
&
maxillary hypoplasia have been  
reported1.  
Correspondence to: Murtaza Sameen Junejo  
Liaquat University of Medical and Health Sciences,  
Jamshoro  
CASE PRESENTATION  
A well oriented male 46-years-old (weight: 83 kg)  
presented to Laser Sight on November 7, 2019, with  
173  
Pakistan Journal of Ophthalmology, 2020, Vol. 36 (2): 173-176  
A Clinical Findings in an Asian Family with Axenfeld-Rieger Syndrome  
complaints of painless, progressive deterioration of  
vision in his right eye for 1 month and decreased  
vision in left eye for 10 years. He was using  
Latanoprost eye drops (1 drop once a day) and Cosopt  
eye drops (1 drop twice a day) in both eyes for 1 year.  
An informed consent was obtained from the patient.  
showed Cup-disc ratio of 0.7 with notching of vessel  
and neuroretinal rim thinning along with peripapillary  
atrophy. The ultrasound B scan of Left eye was  
unremarkable while the anterior segment examination  
of left eye showed leucoma from limbus to limbus.  
On Ocular examination his best-corrected visual  
acuity (BCVA) was 6/60 (OD) and perception of light  
(OS), while the intraocular pressure (IOP) was  
28 mm Hg (OD) and 18 mm Hg (OS) measured with  
Goldmann applanation tonometer. The slit-lamp  
examination of right anterior segment showed  
paracentral corneal opacity of 1.5 cm and bullae at 6  
and 7’o clock (Fig. 1). The diameters of cornea were  
10 mm OU (Fig. 1). The iris changes included stromal  
hypoplasia with corectopia (Fig. 1). Gonioscopy  
showed an iridocorneal adhesion of the anterior angle  
on his right eye at all 4 quadrants along with posterior  
embryotoxon. The retinal photography of the right eye  
Fig. 2: B-scan of Left Eye.  
On general physical examination and systemic  
examination, hypodontia of the maxillary anterior  
teeth was observed in both the primary and permanent  
dentition, for which he was referred to a dentist.  
Craniofacial anomalies, including mid face hypoplasia,  
hypertelorism, and telecanthus were observed. ARS  
was diagnosed on the basis of clinical features  
discussed above. The patient underwent glaucoma  
drainage devise (AGV) surgery in his right eye. One  
week later IOP was 10 mm Hg in his right eye. Family  
history was also positive due to consanguineous  
marriage. He had six brothers and five sisters, out of  
whom two brothers and one sister had positive history  
of decreased vision due to glaucoma. His sister also  
had maxillary, anterior teeth and iris stromal  
hypoplasia along with posterior embryotoxon. They  
were referred to maxillofacial surgeon, cardiologist  
and counseled for cross marriages to prevent this  
inherited disease.  
DISCUSSION  
In 1920, Theodor Axenfeld first described ARS  
characterized by posterior embryotoxon and prominent  
iris strands extending from the peripheral iris to this  
line. A case with hypoplasia, iris like stromal  
Fig. 1: Top: Hypertelorism with left leucocoria. Middle: Dental  
Abnormalities. Ahmed: Glaucoma Valve  
Pakistan Journal of Ophthalmology, 2020, Vol. 36 (2): 173-176  
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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.  
REFERENCES  
1. Titheradge H, Togneri F, McMullan D, Brueton L,  
Lim D, Williams D. Axenfeld-Rieger syndrome:  
further clinical and array delineation of four unrelated  
patients with a 4q25 microdeletion. Am J Med Genet.  
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2. Ito YA, Walter MA. Genomics and anterior segment  
dysgenesis: a review. Clin Exp Ophthalmol. 2014; 42  
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3. Tumer Z, Bach-Holm D. Axenfeld-Rieger syndrome  
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4. Seifi M, Footz T, Taylor SA, Elhady GM, Abdalla  
EM, Walter MA. Novel PITX2 gene mutations in  
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5. Yin HF, Fang XY, Jin CF, Yin JF, Li JY, Zhao SJ,  
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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: 7304.  
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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A Clinical Findings in an Asian Family with Axenfeld-Rieger Syndrome  
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Thomas R. Unusual presentation in Axenfeld-Rieger  
syndrome. Indian J Ophthalmol/. 2011; 59: 3124.  
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.…….  
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