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Ophthalmic Images
March 17, 2021

Hyperlipofuscinosis With Subretinal Fibrosis and Choroidal Vascular Remodeling in Stargardt Disease

Author Affiliations
  • 1Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa Hospital and Clinics, Iowa City
JAMA Ophthalmol. 2021;139(3):e205438. doi:10.1001/jamaophthalmol.2020.5438

A 13-year-old boy with molecularly confirmed ABCA4-associated Stargardt disease presented for genetic consultation. His visual acuity measured 20/320 OU. A fundus examination revealed temporal optic nerve pallor, severe macular atrophy, and pisciform flecks bilaterally, as well as a large, hyperpigmented scar in the left eye only (Figure, A). Hypertrophic scarring in Stargardt disease has been described previously, but the overall prevalence is unknown.1-3 Hyperlipofuscinosis attributable to release (eg, from ocular trauma) of toxic bisretinoids accumulated in the retinal pigment epithelium has been implicated in pathogenesis.2 Recently, optical coherence tomography (OCT) angiography has been used to show rarefaction of choroidal vasculature in patients with Stargardt disease without scarring.4 This patient had severe outer retinal loss on structural OCT, and OCT angiography showed profound choroidal flow loss, as well as an extensive, abnormally arranged vascular network, consistent with vascular remodeling (Figure, B). This patient was asymptomatic from the scar, which has remained stable over 3 years of follow-up.

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