Abstract
Purpose :
PHACES Syndrome includes Posterior fossa malformations, infantile Hemangiomas (95% facial, IFH) with Arterial, Cardiac, Eye and Sternal anomalies. Data on ophthalmic involvement are limited with variable prevalence. We aim to present a large cohort of patients with PHACES highlighting prevalence, spectrum of anomalies and outcomes of ophthalmic involvement.
Methods :
A retrospective, non-comparative, single-institutional observational case series was performed. All patients with documented PHACES syndrome diagnosed and managed between 2000-2019 at a single tertiary referral center were reviewed. Data collected included gender, age, diagnostic criteria (Major and minor), IFH distribution, ocular presentation, ophthalmic/visual interventions, follow-up and visual acuity. Primary outcome measures were the frequency and spectrum of ocular involvement. The secondary outcomes were final visual acuity (Poor visual outcome was defined as final visual acuity worse than 20/200), long-term ocular sequelae and need for surgical intervention. Simple descriptive statistics calculating frequencies and mean was utilized.
Results :
Forty-three infants [33 females (77%), mean presenting age 8 weeks] were reviewed. Six infants (14%) had primary congenital ocular anomalies. These included diagnostic criteria [optic nerve anomalies (6), anterior segment dysgenesis (1) and retinal vascular anomalies (1)], and non-diagnostic abnormalities [persistent pupillary membrane (2)]. Twenty-nine infants (67%) had secondary ophthalmic involvement due to IFH [ptosis (20 mild, 9 severe), proptosis (9), strabismus (6)]. After mean follow-up 8.7 years post-IFH diagnosis, 8/29 children required surgical intervention [Strabismus (6), entropion (2), ptosis (2), optical iridectomy (1)], all with orbital/conjunctival hemangioma (p=0.03). Final visual acuity ranged between 20/20 to 20/80 in 26/29 and <20/200 in 3/29 children (all had optic nerve anomalies). One child died from associated cardiac compromise.
Conclusions :
Identifying common ophthalmic associations in PHACES syndrome was impactful for both diagnostic and vision rehabilitation purposes. Monitoring for and management of periocular IFH complications showed promising visual acuity outcomes.
This is a 2021 ARVO Annual Meeting abstract.