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David W. Wei, Lauren Y. Chan, Alexandra Pennal, Elena Pope, Kamiar Mireskandari; Prevalence of ophthalmic associations and complications of PHACE Syndrome. Invest. Ophthalmol. Vis. Sci. 2017;58(8):2425.
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Ophthalmic complications are associated with PHACE (posterior fossa anomalies, hemangioma, arterial lesions, cardiac abnormalities/coarctation of the aorta, eye anomalies) syndrome. However, investigations of the ophthalmic features have been limited. We report the largest observational clinical study to evaluate the ophthalmic findings associated with PHACE syndrome.
A retrospective chart review of all patients (n=24) diagnosed with definite PHACE syndrome at our institution between January 2000 and March 2016 was conducted. Demographic data and ocular anomalies that met the major and minor diagnostic criteria of PHACE syndrome (persistent fetal vasculature, retinal vascular anomalies, “Morning Glory” disc anomaly, optic nerve hypoplasia, peripapillary staphyloma, sclerocornea, cataract, coloboma and microphthalmia) were collected. Other ophthalmic complications including ptosis, visual occlusion, proptosis, amblyopia, strabismus, and refractive error were also recorded.
Peri-ocular involvement of the hemangioma was present in 19 (79%) patients, involving the eyelids (n=19), orbit (n=8), and conjunctiva (n=5). Due to eyelid involvement, 15 (63%) patients had ptosis, with six resulting in visual obstruction.Only 2 (8%) patients had ocular anomalies that met the diagnostic criteria for PHACE syndrome. The first patient had peripapillary staphyloma, a major criterion. The second patient had two minor criteria, cataract and Peters anomaly, in the spectrum of sclerocornea.Amblyopia was present in 10 (42%) patients. Treatments included optical iridectomy for Peters anomaly, refractive correction and patching for amblyopia. Strabismus developed in 5 (21%) patients, 4 of whom required corrective surgery.
We report the largest cohort for which ophthalmic findings are investigated, of which only 2 patients had findings that meet the ocular diagnostic criteria, suggesting that these findings are uncommon in PHACE syndrome. Furthermore, these 2 patients would have been diagnosed with PHACE syndrome even without the ocular criteria, putting into question the relevance of the ocular criteria. Most eye abnormalities were complications secondary to the location of the hemangioma, including ptosis, proptosis, strabismus, and amblyopia. Thus, regardless of diagnostic criteria, ophthalmologists should be consulted in all cases of PHACE syndrome to promptly recognize and treat ophthalmic complications.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
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