Retinal cavernous hemangioma is a benign, rare and usually asymptomatic familial retinal hamartoma, but still needs to be diagnosed accurately due to systemic association with potentially fatal cerebral aneurysms. Persistent fetal vasculature (PFV) is a unilateral, isolated, nonheritable malformation of the eye in an otherwise normal child. We report a co-existence of these two pathologies in the same eye of a child, followed up for 14 years.
A 6-year-old girl presented to us with a reported squinting OS. She was the outcome of a full-term normal delivery from nonconsanguineous parents. Best-corrected visual acuity (BCVA) was 20/20 OD and 20/40 OS. Anterior and posterior segments OD were unremarkable. She had 15-degree intermittent exotropia OS, with full ocular movements. Slit lamp biomicroscopy showed a peripheral retrolenticular opacity OS; rest of the anterior segment was unremarkable. Fundus OS showed a fibrovascular stalk consistent with PFV extending anteronasally from the optic disc toward the lens. Grape-like clusters of blood-filled aneurysms were observed on the disc and over the base and apex of the stalk. A triangular area of retinal pigmentary disturbance nasal to the optic nerve head suggested a spontaneously settled tractional retinal detachment [Fig. 1a]. There were traces of settled vitreous hemorrhage inferiorly. B-scan ultrasonography identified the PFV (not shown); the diagnosis of cavernous hemangioma on the optic disc and on the PFV stalk was confirmed by fluorescein angiography, which showed classic erythrocyte–plasma interface within the aneurysms [Fig. 1b]. Systemic evaluation and family history were negative. Magnetic resonance imaging showed no calcification OS, and no associated lesions in the central nervous system. At 14 years of age, she reported acute visual loss OS. She was observed to have recurrent vitreous hemorrhage, which cleared over 2 months with full visual recovery. She had another self-limiting episode of vitreous hemorrhage by the final follow-up at 20 years of age; BCVA was stable at 20/40 and the fundus remained unchanged till the last visit.
Retinal cavernous hemangioma is typically a stable condition, with no exudation and occasional, transient episodes of vitreous hemorrhage. Visual symptoms are more common with large and posterior angiomas, which are rare. Most lesions are asymptomatic and do not require treatment. Contraction of fibroglial component on a cavernous hemangioma has been reported to be the cause of vitreous hemorrhage. In our patient, the bleeding could also have occurred due to traction on fibrovascular stalk transmitted to the aneurysms by the expanding eye wall; this hypothesis was supported by the occurrence of vitreous hemorrhage twice during the pubertal years. Milder variants of PFV may present a stable profile similar to cavernous hemangioma. Visual loss is however more common and sometimes severe, requiring surgical intervention, mostly in posterior PFV. It needs to be differentiated from congenital retinal folds or “falciform folds,” which result from incomplete vascular development unlike PFV. They are also commonly unilateral, but are almost always temporal, extending toward the peripheral retina rather than the crystalline lens, are usually familial, have bilateral abnormalities in most patients, and have worse visual outcomes. Our patient was unusual in having a fibrovascular stalk consistent with combined posterior and anterior PFV with superimposed saccular aneurysms, a large papillary cavernous hemangioma spilling over the papillomacular bundle, and recurrent vitreous hemorrhages, all of which are associated with poor visual prognosis. Notwithstanding the concurrence of these markers of visual impairment, she maintained a stable, excellent vision over a long follow-up.
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