Abstract
Purpose :
PHACES syndrome is a rare neurocutaneous syndrome in which the acronym denotes its major features; Posterior fossa malformations, Hemangiomas, Arterial anomalies, Cardiac defects and coarctation of the aorta, Eye abnormalities, and Sternal or ventral defects. It is believed one-third of patients have periocular and ocular manifestations. There are very few cases in the ophthalmologic literature of PHACES syndrome. We performed a retrospective, observational clinical study to describe the variable ophthalmologic and orbital manifestations of PHACES syndrome.
Methods :
A retrospective chart review of seven individuals (five female, two male) who have received ophthalmologic and oculoplastic care at Alberta Children’s Hospital was performed. Data collected included age of presentation, best vision, presence or absence of ptosis, strabismus, amblyopia, eye and orbital surgeries, posterior fossa abnormalities and other ocular and systemic abnormalities.
Results :
All patients had confirmed PHACES syndrome based on clinical examination and neuroimaging (MRI). Average age at presentation was 5 weeks old. Visual acuity ranged from inability to fixate to 20/25. Average best visual acuity was 20/66 and 20/54 in the right and left eyes respectively. All seven individuals had hemangiomas affecting the face; five with right, one with left and one with bilateral facial involvement. Three individuals had ptosis, four were treated with oral propranolol, three had amblyopia and two had exotropia. Two individuals required surgical debulking of the eyelid hemangioma. Four individuals had additional ocular manifestations, which included retinopathy of prematurity, choroidal hemangioma, proptosis, latent nystagmus and elevated intraocular pressure. All seven individuals had other systemic manifestations characteristic of PHACES Syndrome.
Conclusions :
PHACES syndrome has important ophthalmic implications. The ophthalmologist’s role in this condition includes diagnosis, medical and surgical management given the multitude of ocular and periocular manifestations of PHACES Syndrome. This review highlights the course of this rare syndrome from an ophthalmological perspective.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.