Ocular and systemic manifestations of PHACES (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Cardiac defects and coarctation of the Aorta, Eye abnormalities, and Sternal abnormalities or ventral developmental defects) syndrome.
BACKGROUND
PHACES syndrome (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Cardiac defects and coarctation of the aorta, Eye abnormalities, and Sternal abnormalities or ventral developmental defects) is a rare neurocutaneous syndrome with only 2 case reports published in the ophthalmic literature. This study was conducted to identify ocular and systemic manifestations of PHACES syndrome.


METHODS
A retrospective chart review was performed on 8 children with a diagnosis of PHACES syndrome. Information recorded included age at first visit, length of follow-up, gender, race, vision, need for glasses, strabismus, amblyopia, ptosis, proptosis, anterior and posterior segment abnormalities, need for treatment of the hemangioma, type of treatment of the hemangioma, and systemic manifestations.


RESULTS
Periocular and ocular findings in patients with PHACES syndrome included hemangioma involving ocular structures (n = 6), strabismus (n = 4), amblyopia (n = 5), proptosis (n = 2), ptosis (n = 5), anterior polar cataract (n = 1), optic atrophy from optic neuropathy (n = 1), heterochromia (n = 1), and refractive error requiring glasses (n = 2). All patients were treated with steroids for the hemangioma. Systemic manifestations of PHACES syndrome included posterior fossa malformation (n = 4), hemangioma (n = 8), arterial anomalies (n = 3), cardiac abnormalities (n = 3), and sternal or ventral deformities (n = 3).


CONCLUSIONS
Children with PHACES syndrome may have significant ocular and systemic abnormalities and are at increased risk for strabismus and amblyopia. They often require steroid therapy of the hemangioma to prevent and/or treat ocular complications. These patients require careful monitoring by a pediatric ophthalmologist in addition to other subspecialists.
Kronenberg
Alaina
A
Department of Ophthalmology, Long Island Jewish Medical Center, North Shore-Long Island Health Systems, Great Neck, NY, USA.
Blei
Francine
F
Ceisler
Emily
E
Steele
Mark
M
Furlan
Louis
L
Kodsi
Sylvia
S
D000015:Abnormalities, Multiple; D000550:Amblyopia / Q000209:etiology* / Q000503:physiopathology; D001017:Aortic Coarctation; D001158:Arteries / Q000002:abnormalities; D003388:Cranial Fossa, Posterior / Q000002:abnormalities; D005124:Eye Abnormalities / Q000150:complications*; D005133:Eye Movements; D005153:Facial Neoplasms / Q000150:complications*; D005260:Female; D005500:Follow-Up Studies; D006330:Heart Defects, Congenital; D006391:Hemangioma / Q000150:complications*; D006801:Humans; D007223:Infant; D012029:Refraction, Ocular; D012189:Retrospective Studies; D013249:Sternum / Q000002:abnormalities; D013285:Strabismus / Q000209:etiology* / Q000503:physiopathology; D013577:Syndrome; D020651:Ventral Thalamic Nuclei / Q000002:abnormalities; D014792:Visual Acuity