Abstract | PURPOSE: OBSERVATIONS: A 39-year-old man with recently diagnosed hereditary hemochromatosis undergoing treatment by serial phlebotomy presented with bilateral progressive blurry vision and recent onset of photopsias and headaches. Fundus examination revealed a symmetric bull's eye maculopathy with photoreceptor loss and retinal pigment epithelium transmission defects in the area of speckled hyper- and hypo-pigmentation by multimodal imaging. Full field and multifocal electroretinograms demonstrated generalized rod and cone dysfunction with some central preservation of waveforms. Further systemic work-up revealed low ceruloplasmin, mildly decreased serum copper and zinc levels, and low urinary copper. The patient underwent testing for inherited retinal dystrophies, but was not found to have any known pathogenic gene mutations. His ferritin levels normalized with serial phlebotomy and his retinopathy did not appear to progress over 6 months with normalization of his iron levels. CONCLUSIONS AND IMPORTANCE:
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Authors | Kellyn N Bellsmith, Joshua L Dunaief, Paul Yang, Mark E Pennesi, Ellen Davis, Holly Hofkamp, Brandon J Lujan |
Journal | American journal of ophthalmology case reports
(Am J Ophthalmol Case Rep)
Vol. 18
Pg. 100674
(Jun 2020)
ISSN: 2451-9936 [Electronic] United States |
PMID | 32258826
(Publication Type: Case Reports)
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Copyright | © 2020 The Authors. |