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ABSENCE OF MACULAR DEGENERATION IN A PATIENT WITH ACERULOPLASMINEMIA

Ronquillo, Cecinio C. MD, PhD*; Sauer, Lydia MD*; Morgan, Denise BS*; Heckzo, Josh B. MD*; Creel, Donnell J. PhD*; Mamalis, Nick MD*; DeAngelis, Margaret M. PhD*; Hagemann, Gregory S. PhD*,†; Bernstein, Paul S. MD, PhD*

doi: 10.1097/IAE.0000000000002628
Clinicopathologic Correlation
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Purpose: To describe the clinical, histological, electrophysiologic, and multimodal imaging findings in a 76-year-old patient with aceruloplasminemia with low genetic risk of age-related macular degeneration (AMD).

Methods: Clinical examination as well as multimodal imaging including fundus photography, optical coherence tomography, fluorescence lifetime imaging ophthalmoscopy imaging, and full-field and multifocal electroretinography were performed on one patient with aceruloplasminemia. The ceruloplasmin gene was sequenced to confirm a known mutation. Single nucleotide polymorphism genotyping of known AMD risk alleles was performed to characterize the AMD risk profile of the patient. Prussian blue staining in postmortem retinal sections was used to confirm iron accumulation.

Results: A homozygous mutation in the ceruloplasmin gene was detected at position c.395-1 G>A. The clinical assessment and imaging of the patient did not show any findings of AMD. Fundus examination revealed yellow flecks in the midperiphery with notable absence of macular drusen or geographic atrophy. Genotyping for AMD risk alleles revealed a low AMD risk profile. Histopathologic analysis confirms iron accumulation in retinal pigment epithelial cells.

Conclusion: In contrast to a previous report, these findings suggest that neither aceruloplasminemia nor iron accumulation was sufficient to cause AMD in this patient.

This is a clinicopathologic correlation study of a patient with aceruloplasminemia with postmortem findings confirming iron accumulation in retinal pigment epithelium cells with normal macular histology. This report shows that neither aceruloplasminemia nor iron accumulation in the retinal pigment epithelium was sufficient to cause macular degeneration in this patient.

*Department of Ophthalmology, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah; and

Steele Center for Translational Medicine, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah.

Reprint requests: Paul S. Bernstein, MD, PhD, John A. Moran Eye Center, University of Utah, 65 Mario Capecchi Drive, Salt Lake City, UT, 84132; e-mail: paul.bernstein@hsc.utah.edu

This study was funded by an unrestricted grant from Research to Prevent Blindness and an NIH core grant (EY-14800). C. C. Ronquillo is a recipient of an Achievement Rewards for College Scientists (ARCS) Scholar grant. Heidelberg Engineering provided the prototype FLIO instrument at no cost to the University of Utah.

G. S. Hagemann is a shareholder and consultant for Voyant Biotherapeutics, LLC.

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© 2019 by Ophthalmic Communications Society, Inc.