ABSENCE OF MACULAR DEGENERATION IN A PATIENT WITH ACERULOPLASMINEMIA. Issue 9 (September 2019)

• Record Type: Journal Article
• Authors: Ronquillo, Cecinio C.; Sauer, Lydia; Morgan, Denise; Heckzo, Josh B.; Creel, Donnell J.; Mamalis, Nick; DeAngelis, Margaret M.; Hagemann, Gregory S.; Bernstein, Paul S.
• Is Part Of: Retina. Volume 39:Issue 9(2019)
• Publication Date: 2019-09
• Subjects: aceruloplasminemia -- age-related macular degeneration -- FLIO -- iron; Retina -- Diseases -- Periodicals; Retinal Diseases; Vitreous Body; 617.735
• DOI: 10.1097/IAE.0000000000002628
• Languages: English
• ISSNs: 0275-004X

Abstract

Abstract : 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. Abstract : Supplemental Digital Content is Available in the Text.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.