ABSENCE OF MACULAR DEGENERATION IN A PATIENT WITH ACERULOPLASMINEMIA.

Autor:	Ronquillo CC; Department of Ophthalmology, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah., Sauer L; Department of Ophthalmology, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah., Morgan D; Department of Ophthalmology, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah., Heckzo JB; Department of Ophthalmology, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah., Creel DJ; Department of Ophthalmology, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah., Mamalis N; Department of Ophthalmology, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah., DeAngelis MM; Department of Ophthalmology, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah., Hagemann GS; Department of Ophthalmology, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah.; Steele Center for Translational Medicine, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah., Bernstein PS; Department of Ophthalmology, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah.
Jazyk:	angličtina
Zdroj:	Retina (Philadelphia, Pa.) [Retina] 2019 Sep; Vol. 39 (9), pp. 1824-1828.
DOI:	10.1097/IAE.0000000000002628
Abstrakt:	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.
Databáze:	MEDLINE
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