title: Retinal telangiectasis detected during a vision screening examination in a child with hearing loss led to the diagnosis of facioscapulohumeral muscular dystrophy.
abstract: A 2-year-old girl with congenital sensorineural hearing loss was found to have retinal exudation and subretinal fluid in her left eye. Further investigation revealed leaking retinal telangiectasias in her left eye and extensive areas of peripheral retinal nonperfusion in both eyes. A clinical diagnosis of facioscapulohumeral muscular dystrophy (FSHD) was confirmed by genetic testing. The patient was followed with serial intraoperative optical coherence tomography (OCT) scans, which demonstrated subretinal fluid in the macula and its subsequent resolution after treatment. She underwent 6 rounds of panretinal photocoagulation and 2 injections of intravitreal bevacizumab, which resolved the subretinal fluid and exudates.
authors.affiliation: Tufts Medical Center Ophthalmology, Boston, Massachusetts. Electronic address: Glee1@tuftsmedicalcenter.org.
authors.forename: Gregory D
authors.initials: GD
authors.lastname: Lee
authors.affiliation: Tufts Medical Center Ophthalmology, Boston, Massachusetts.
authors.forename: Vicki M
authors.initials: VM
authors.lastname: Chen
authors.affiliation: Tufts University Medical School.
authors.forename: Alexander C
authors.initials: AC
authors.lastname: Barnes
authors.affiliation: Tufts Medical Center Ophthalmology, Boston, Massachusetts.
authors.forename: Darin R
authors.initials: DR
authors.lastname: Goldman
authors.affiliation: Tufts Medical Center Ophthalmology, Boston, Massachusetts.
authors.forename: Jay S
authors.initials: JS
authors.lastname: Duker
mesh_terms: D020533:Angiogenesis Inhibitors / Q000627:therapeutic use; D061067:Antibodies, Monoclonal, Humanized / Q000627:therapeutic use; D000068258:Bevacizumab; D002675:Child, Preschool; D003131:Combined Modality Therapy; D005260:Female; D005451:Fluorescein Angiography; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000175:diagnosis*; D006801:Humans; D017075:Laser Coagulation; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis*; D058456:Retinal Telangiectasis / Q000175:diagnosis* / Q000628:therapy; D058471:Subretinal Fluid; D041623:Tomography, Optical Coherence; D042461:Vascular Endothelial Growth Factor A / Q000037:antagonists & inhibitors; D015351:Vision Screening
chemical_list: D020533:Angiogenesis Inhibitors; D061067:Antibodies, Monoclonal, Humanized; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A; D000068258:Bevacizumab