Extraocular muscle enlargement in retinoencephalofacial angiomatosis

A 22-year-old female presented for evaluation of five years of progressive left exophthalmos and intermittent blurred vision. She had previously received laser treatment for peripheral retinal neovascularization and had undergone lip reconstruction for a left-sided congenital vascular facial malform...

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Bibliographic Details
Published in:Orbit (Amsterdam) 2020-06, Vol.39 (3), p.221-223
Main Authors: Kamboj, Alisha, Tooley, Andrea A, Godfrey, Kyle J, Maher, Mary D, Schubert, Hermann D, Kazim, Michael
Format: Article
Language:English
Subjects:
Angiomatosis - genetics
Angiomatosis - pathology
Arteriovenous Malformations - genetics
Arteriovenous Malformations - pathology
Exophthalmos - genetics
Exophthalmos - pathology
Female
Humans
Magnetic Resonance Imaging
Oculomotor Muscles - pathology
Young Adult
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Summary:A 22-year-old female presented for evaluation of five years of progressive left exophthalmos and intermittent blurred vision. She had previously received laser treatment for peripheral retinal neovascularization and had undergone lip reconstruction for a left-sided congenital vascular facial malformation. Magnetic resonance imaging demonstrated diffuse enlargement of the left extraocular and temporalis muscles, with prominent vessels in the temporalis muscle and intraconal fat. Left fundoscopic examination revealed grossly enlarged, tortuous retinal vessels extending from the optic disc to the peripheral retina and an abnormal network of capillaries. On the basis of these findings, a diagnosis of retinoencephalofacial angiomatosis was established. Retinoencephalofacial angiomatosis is a rare, non-hereditary disorder associated with ipsilateral retinal, brain, and facial arteriovenous malformations. This is the first report, to the authors' knowledge, of retinoencephalofacial angiomatosis presenting with exophthalmos secondary to extraocular muscle enlargement.
ISSN:0167-6830
1744-5108
DOI:10.1080/01676830.2019.1677727