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Axenfeld Rieger syndrome: a rare case report of two siblings.

INTRODUCTION: Axenfeld-rieger syndrome (ARS) refers to an autosomal dominant genetic condition characterised by anterior segment dysgenesis and systemic abnormalities. In 1920, axenfeld characterised the anomaly which bears his name when he described posterior embryotoxon and iris strands adherent to the anteriorly displaced schwalbe's line (1). Rieger described patients with congenital iris abnormalities including iris hypoplasia, corectopia, and polycoria, now referred as rieger anomaly, in 1935(2). Rieger anomaly, associated with systemic findings, like dental, facial bone defects, umbilical abnormalities or pituitary involvement is known as rieger syndrome. (3, 4) The combination of Axenfeld anomaly, and Rieger syndrome is known collectively as Axenfeld-Rieger syndrome.

CASE REPORT: we present two siblings with morphological features of ARS.

Boy was aged 13 years and his sister was 10 years old. Boy had maxillary hypoplasia (fig. 1), eye changes in the form of iris hypoplasia, polycoria (multiple pupils), corectopia (eccentrically placed pupil), posterior embryotoxon (white rim of cornea), which refers to displacement of schwalbe's line anterior to limbus in the cornea. (fig. 2) And raised intra ocular tension.

His dental abnormalities were oligodontia (fewer than normal teeth), microdontia (small teeth), in both upper and lower jaw with taurodontism (vertically enlarged pulp spaces extending in to the roots rendering tooth weak) (fig. 3 and 4 OPG).

On abdominal examination he had protuberant umbilicus with redundant skin folds. (fig. 5)

On audiometry evaluation he had right ear moderate high frequency sensorineural hearing loss.

On anthropometry growth parameters were appropriate for age. Echocardiography done in both siblings was normal.

The girl child had similar features as her brother except for audiometry which was normal. Both siblings are at present on treatment for raised intraocular tension and orthodontic treatment for dental abnormalities.

DISCUSSION: this disorder is seen in approximately 1 in 200000 live births. There is no sex predilection. Most cases are diagnosed during infancy or childhood; however glaucoma occurs late in childhood or adulthood. (3, 4)

Defects in differentiation, migration or arrested development of neural crest cells in the anterior chamber, facial bones, teeth, cardiovascular system and periumbilical skin are considered to be the etiologic basis for the ocular and systemic findings characteristic of ARS.

Histologically, patients with ARS have been found to have a monolayer of endothelial-like cells with descemet membrane extending from the cornea, across the anterior chamber and angle structures on to the surface of the iris. The membrane is typically found in the quadrant with associated ectropion uveae/corectopia and the iris atrophy is found in the opposite quadrant. (4)

Clinically most commonly recognised manifestations of ARS are iris corectopia, atrophy, and posterior embryotoxon. Typically, the reminder of the cornea is clear. The iris strands adherent to posterior embryotoxon can range from thin strands to broad bands. This results in occlusion of angle structures and raised intraocular tension. (4) Glaucoma is seen in approximately 50% of cases with ARS.

Systemically, patients with ARS will commonly have mid craniofacial dysmorphism, dental abnormalities, and redundant umbilical skin. The facial abnormalities include hypertelorism, telecanthus, maxillary hypoplasia and broad flat nasal bridge. Dental abnormalities include microdontia, oligodontia or hypodontia. In addition patients may have hypospadias, anal stenosis pituitary abnormalities and cardiac valvular lesions. Growth hormone deficiency and short stature have been described.

GENETICS: ARS is autosomal dominant in most cases, but it can occur sporadically. (5) ARS is a genetically heterogeneous group of abnormalities as a result of mutations in at least four different genetic loci, mutations in PITX2 on ch4q25, FOXC1 on 6p25, PAX6 on 11p13 and FOXO1A on 13q14 have been associated with ARS. (4) these genes encode for transcription factors which regulate expression of downstream genetic targets by binding to specific DNA sequences and activating transcription.

MANAGEMENT: includes both surgical and medical approaches to reduce raised intra ocular tension. Aqueous suppressants, including beta-blockers and carbonic anhydrase inhibitors have been shown to be safe and effective. surgical options are goniotomy, trabeculotomy, aqueous shunt procedures or cyclodestructive procedures.

CONCLUSION: Axenfeld-rieger syndrome is a rare autosomal dominant disorder with high penetrance but variable expressivity associated with ocular and systemic developmental abnormalities. Glaucoma is seen in 50 % of patients with ARS. four genetic loci have been reported. management primarily includes surgical management of glaucoma, prevention of amblyopia. Lifelong monitoring of these patients is important.



(1.) Simone Dressler, Philip Meyer-Marcotty, Nicole Weisschuh, Anahita Jablonski-Momeni, Klaus Pieper, Gwendolyn Gramer and Eugen Gramer. "Dental and Craniofacial Anomalies Associated with Axenfeld Rieger Syndrome with PITX2 Mutation". Case Reports in Medicine, vol 2010, Article ID 621984.

(2.) M. B. Shields, E. Buckley, G. K. Klintworth, and R. Thresher, "Axenfeld-Rieger syndrome. A spectrum of developmental disorders," Survey of Ophthalmology, vol. 29, no. 6, pp. 387-409, 1985.

(3.) W. L. M. Alward, "Axenfeld-Rieger syndrome in the age of molecular genetics," American Journal of Ophthalmology, vol. 130, no. 1, pp. 107-115, 2000.

(4.) J. C. Phillips, "Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome, " Ophthalmic Research, vol. 34, no. 5, pp. 324-326, 2002.

(5.) Hjalt TA, semina EV:current molecular understanding of axenfeld-rieger syndrome. Expert Rev Mol Med 2005;7:1-17.


[1.] Rajanish K.V.

[2.] Sahana G.

[3.] Adarsh E.

[4.] Purushotham D.R.

[5.] Sunil B.


[1.] Associate Professor, Department of Paediatrics, Rajarajeshwari Medical College and Hospital, Bangalore.

[2.] Assistant Professor, Department of Paediatrics, Rajarajeshwari Medical College and Hospital, Bangalore.

[3.] Professor & HOD, Department of Paediatrics, Rajarajeshwari Medical College and Hospital, Bangalore.

[4.] Assistant Professor, Department of Paediatrics, Rajarajeshwari Medical College and Hospital, Bangalore.

[5.] Associate Professor, Department of Paediatrics, Rajarajeshwari Medical College and Hospital, Bangalore.


Dr. Rajanish K.V., #42, Anagha, 5th B Block, 34th Main, Bhavani Hsg Soc Layout, Banagirinagara, BSK 3rd Stage, Bangalore--560040.

Date of Submission: 15/11/2013.

Date of Peer Review: 16/11/2013.

Date of Acceptance: 20/11/2013.

Date of Publishing: 22/11/2013
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Title Annotation:CASE REPORT
Author:Rajanish, K.V.; Sahana, G.; Adarsh, E.; Purushotham, D.R.; Sunil, B.
Publication:Journal of Evolution of Medical and Dental Sciences
Article Type:Clinical report
Geographic Code:9INDI
Date:Nov 25, 2013
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