DÄ internationalArchive7/2018Headache and Eye Pain in a Patient With Unusual Facial Morphology

Clinical Snapshot

Headache and Eye Pain in a Patient With Unusual Facial Morphology

Dtsch Arztebl Int 2018; 115: 116. DOI: 10.3238/arztebl.2018.0116a

Frings, A; Schargus, M

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Anterior ocular segment in advanced Axenfeld-Rieger syndrome
Anterior ocular segment in advanced Axenfeld-Rieger syndrome
Figure
Anterior ocular segment in advanced Axenfeld-Rieger syndrome

A 21-year-old man presented to the ophthamological emergency room complaining of left eye pain and headache of two days’ duration that had not responded to oral analgesics (acetaminophen 250 mg bid). Eye examination revealed bilateral dysgenesis of the anterior ocular segment due to Axenfeld-Rieger syndrome (ARS). This is an autosomal dominant disorder with a prevalence of one in 200 000, high penetrance, and variable ocular and systemic expression of malformations due to disturbed differentiation of neuronal stem cells. This patient’s symptoms were due to elevated intraocular pressure in the left eye. The more common ocular manifestations of ARS are posterior embryotoxon, iridial atrophy, corectopia, and ectropium uveae; 50% of patients develop refractory glaucoma. Eye pressure compensation could be achieved by the topical application of a combined beta blocker and carbonic anhydrase inhibitor, but adequate lowering often requires extensive glaucoma surgery.

Dr. med. Andreas Frings, MD, Universitätsklinik für Augenheilkunde der Heinrich-Heine-Universität Düsseldorf, andi.frings@gmail.com

PD Dr. med. Marc Schargus, FEBO, MHBA, Universitätsklinik für Augenheilkunde der Heinrich-Heine-Universität Düsseldorf

Conflict of interest statement The authors state that they have no conflict of interest

Cite this as: Frings A, Schargus M: Headache and eye pain in a patient with unusual facial morphology. Dtsch Arztebl Int 2018; 115: 116. DOI: 10.3238/arztebl.2018.0116a

Translated from the original German by Ethan Taub, M.D.

Anterior ocular segment in advanced Axenfeld-Rieger syndrome
Anterior ocular segment in advanced Axenfeld-Rieger syndrome
Figure
Anterior ocular segment in advanced Axenfeld-Rieger syndrome