Birdshot chorioretinopathy in a male patient with facioscapulohumeral muscular dystrophy

Evangelia Papavasileiou; Ann-Marie Lobo

doi:10.1186/s12348-014-0030-z

Birdshot chorioretinopathy in a male patient with facioscapulohumeral muscular dystrophy

J Ophthalmic Inflamm Infect. 2015 Mar 12:5:7. doi: 10.1186/s12348-014-0030-z. eCollection 2015.

Authors

Evangelia Papavasileiou¹, Ann-Marie Lobo²

Affiliations

¹ Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA USA.
² Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA USA ; Ocular Immunology and Uveitis Service, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114 USA.

Abstract

We report a case of birdshot chorioretinopathy (BSCR) in a patient with facioscapulohumeral muscular dystrophy (FSHD). A 40-year-old male with history of facioscapulohumeral muscular dystrophy with significant facial diplegia and lagophthalmos presents for an evaluation of bilateral choroiditis with vasculitis and optic disc edema. Clinical examination included fundus and autofluorescence photographs, fluorescein angiography, and optical coherence tomography. To our knowledge, this patient represents the first reported case of birdshot chorioretinopathy with facioscapulohumeral muscular dystrophy. Patients with FSHD can present with ocular findings and should be screened with dilated fundus examinations for retinal vascular changes and posterior uveitis.

Keywords: Birdshot chorioretinopathy; Facioscapulohumeral muscular dystrophy.