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PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect.

PHACE Syndrome is a neurocutaneous disease spectrum encompassing the following features: Posterior fossa brain malformations, large facial Hemangiomas, Arterial anomalies, Coarctation of the aorta and cardiac defects, and Eye abnormalities. We report the ocular and systemic findings, as well as the management course, of an infant who has all the characteristic features of PHACE syndrome and also describe what we believe to be the first reported case of this syndrome with Persistent Fetal Vasculature (PFV).

Abnormalities, Multiple↗

Treatment of sensory retinal detachment associated with optic nerve pit or coloboma.

Six eyes with optic nerve pit and associated sensory retinal detachment of the macula were treated using a management plan that utilized a combination of techniques including laser photocoagulation, pars plana vitrectomy, and intraocular air/fluid exchange. In each treated eye the retina was eventually flattened. This paper discusses this plan of management and series of treatment modalities.

Adolescent↗

Management of retinal detachment with choroidal coloboma.

Seventeen eyes with retinal detachment secondary to retinal breaks in the colobomatous area were managed by vitrectomy procedures. Endodrainage was done through the break in the colobomatous area, with simultaneous fluid-air exchange. Endolaser photocoagulation was performed along the colobomatous margin posteriorly, while the anterior portion was treated by transscleral cryopexy. Silicone oil was then exchanged with air. In nine cases, the silicone oil had to be removed for complications such as emulsification, glaucoma, and keratopathy; in three of these eyes, oil removal resulted in recurrent retinal detachment. At the 2-month follow-up visit, there was 100% anatomic success, and 12 eyes (70.6%) recovered visual acuity of 10/200 or better. Of the 11 eyes with follow-up of more than 6 months, in 9 (81.8%) the retina remained reattached at last-follow up, and in 6 eyes (54.5%) a visual acuity of 10/200 or better was obtained.

Adolescent↗