European Journal of Biomedical and Pharmaceutical Sciences

OCULAR MANIFESTATIONS IN PHACE SYNDROME AND REVIEW OF LITERATURE

*Dr. Mona Sune, Dr. Pradeep Sune and 3Dr. Sachin Pawade

ABSTRACT

OBJECTIVES: To introduce PHACE syndrome (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and other cardiac defects, and Eye abnormalities) to the ophthalmologic literature; to report the case of PHACE syndrome associated with congenital cataract with lid hypoplasia on lateral half of lid with trichiasis; and to review the ocular and systemic findings that may occur in this group of disorders. DESIGN: Case report and literature review. METHODS: To examine a child with PHACE syndrome and congenital cataract with lid coloboma and foreign body sensation due to trichiasis and review the ophthalmologic and systemic manifestations of this syndrome. RESULTS: We report a case of nine years old female with foreign body sensation in left eye with auricular and nasal hypoplasia and multiple ocular menifestations like-lid coloboma,trichiasis,cloudy cornea with signs of healed iridocyclitis with congenital cataract with partially absorbed lens. Skin showed atrophic scarring with telangia ectasia over face and upper chest. We did epilation of the misdirected lashes with application of sectoral cryo. CONCLUSIONS: Ophthalmologists who examine children with large facial haemangioma should consider PHACE syndrome in the differential diagnosis and should obtain appropriate CNS imaging studies and cardiac evaluation when the diagnosis is suspected. Congenital lid hypoplasia with trichiasis and uveitis should be added to the list of PHACE-associated ocular anomalies.

Keywords: PHACE syndrome, ocular manifestation.