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Case Reports
. 2011 Jul-Aug;59(4):312-4.
doi: 10.4103/0301-4738.82003.

Unusual presentation in Axenfeld-Rieger syndrome

Rajul S Parikh  1 , Shefali R Parikh, B Debashish, B L Harsha, Ravi Thomas
Affiliations
Case Reports

Unusual presentation in Axenfeld-Rieger syndrome

Rajul S Parikh et al. Indian J Ophthalmol. 2011 Jul-Aug.

Abstract

We report an unusual presentation of a case of Axenfeld-Rieger (A-R) syndrome. A 14-year-old male presented with gradual dimness of vision for 1 year and redness of left eye for 3 days. The patient had megalocornea with Haab's striae in the right eye and posterior embryotoxon in both the eyes. In the left eye, there was a white cord-like structure traversing the anterior chamber with adhesions to iris tissue along its course. On two antiglaucoma medications, his intraocular pressure (IOP) was 22 mm Hg in the right eye and 18 mm Hg in the left eye. Gonioscopy revealed a cord-like structure originating at the level of Schwalbe's line. He underwent right eye trabeculectomy with mitomycin-C. This case highlights a rare presentation of a strange cord-like structure, a rare presentation of A-R syndrome.

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Figures

Figure 1
Figure 1
Haab's striae and posterior embryotoxon
Figure 2
Figure 2
White cord-like structure traversing anterior chamber, mostly detached Schwalbe's line
Figure 3
Figure 3
White cord-like structure traversing anterior chamber and with adhesions to iris tissue seen after pupillary dilatation
Figure 4
Figure 4
Gonioscopy showing prominent Schwalbe's line along with the part of angle circumference
See this image and copyright information in PMC

References

    1. Lines MA, Kozlowski K, Walter MA. Molecular genetics of Axenfeld-Rieger malformations. Hum Mol Genet. 2002;11:1177–84. - PubMed
    1. Shields MB. Axenfeld-Rieger syndrome: A theory of mechanism and distinctions from the iridocorneal endothelial syndrome. Trans Am Ophthalmol Soc. 1983;81:736–84. - PMC - PubMed
    1. Espana EM, Mora R, Liebmann J, Ritch R. Bilateral prominent Schwalbe ring in the anterior chamber in a patient with Axenfeld-Rieger syndrome and megalocornea. Cornea. 2007;26:379–81. - PubMed
    1. Shields MB, Buckley E, Klintworth GK, Thresher R. Axenfeld-Rieger syndrome.A spectrum of developmental disorders. Surv Ophthalmol. 1985;29:387–409. - PubMed
    1. Chambers D, McGonnell IM. Neural crest: Facing the facts of head development. Trends Genet. 2002;18:381–4. - PubMed

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