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Ophthalmic involvement in PHACES syndrome: prevalence, spectrum of anomalies, and outcomes

Sameh E Soliman1, Michael J Wan2, Alexandra Pennal3

  • 1Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Canada; Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Canada; Department of Ophthalmology, Faculty of Medicine, Alexandria University, Alexandria, Egypt.

Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|May 13, 2022
PubMed

Insights

Two-thirds of infants with PHACES syndrome experience vision issues from infantile facial hemangiomas. Ocular anomalies occur in 1 in 7 patients, requiring long-term monitoring for good visual outcomes.

Area of Science:

  • Ophthalmology
  • Pediatrics
  • Genetics

Background:

  • PHACES syndrome is a complex disorder involving multiple congenital anomalies.
  • Ophthalmic involvement is a critical component of PHACES syndrome, impacting visual development and prognosis.
  • Understanding the spectrum of ocular manifestations is crucial for timely diagnosis and management.

Purpose of the Study:

  • To determine the prevalence and spectrum of ophthalmic anomalies in infants diagnosed with PHACES syndrome.
  • To evaluate the visual outcomes and long-term sequelae of ocular involvement in PHACES syndrome.
  • To identify factors influencing visual prognosis and the need for surgical intervention.

Main Methods:

  • A retrospective, observational case series was conducted from 2000 to 2019.
  • Data collected included ocular presentations, interventions, and visual outcomes in 43 infants with PHACES syndrome.
  • Statistical analysis focused on the frequency and spectrum of ocular involvement and final visual acuity.

Main Results:

  • 67% of infants had periocular infantile facial hemangiomas (IFH), and 14% had primary ocular anomalies ipsilateral to IFH.
  • Ocular anomalies included optic nerve, retinal vascular, and lenticular abnormalities, as well as non-PHACES-specific conditions.
  • Ptosis, proptosis, and strabismus were common IFH-related periocular abnormalities; 8 children required surgery.

Conclusions:

  • Periocular infantile facial hemangiomas in PHACES syndrome frequently cause vision-compromising complications like amblyopia and strabismus.
  • Structural ocular anomalies are present in approximately 14% of patients and are ipsilateral to the IFH.
  • Long-term ophthalmic monitoring is essential, as most patients achieve good visual outcomes with appropriate management.
Abstract

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