Retinal telangiectasis detected during a vision screening examination in a child with hearing loss led to the diagnosis of facioscapulohumeral muscular dystrophy
| Autor: | A C Barnes, Vicki M. Chen, Darin R. Goldman, Gregory D. Lee, Jay S. Duker |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Vascular Endothelial Growth Factor A
medicine.medical_specialty genetic structures Hearing loss Hearing Loss Sensorineural medicine.medical_treatment Angiogenesis Inhibitors Antibodies Monoclonal Humanized chemistry.chemical_compound Vision Screening Optical coherence tomography Ophthalmology medicine Humans Facioscapulohumeral muscular dystrophy Fluorescein Angiography Muscular dystrophy Laser Coagulation medicine.diagnostic_test business.industry Subretinal Fluid Retinal medicine.disease Fluorescein angiography Combined Modality Therapy Muscular Dystrophy Facioscapulohumeral eye diseases Surgery Bevacizumab chemistry Child Preschool Pediatrics Perinatology and Child Health Retinal Telangiectasis Female sense organs medicine.symptom business Laser coagulation Tomography Optical Coherence |
| Zdroj: | Journal of American Association for Pediatric Ophthalmology and Strabismus. 18:303-305 |
| ISSN: | 1091-8531 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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