Late-onset retinal oxalosis in primary hyperoxaluria type 2.

Autor:	Bhuyan R; Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA., Maggio T; Department of Internal Medicine, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA., Thomas C; Department of Internal Medicine, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA., Sambharia M; Department of Internal Medicine, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA., Gehrs K; Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA., Boyce T; Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA.
Jazyk:	angličtina
Zdroj:	American journal of ophthalmology case reports [Am J Ophthalmol Case Rep] 2024 Aug 22; Vol. 36, pp. 102156. Date of Electronic Publication: 2024 Aug 22 (Print Publication: 2024).
DOI:	10.1016/j.ajoc.2024.102156
Abstrakt:	Purpose: To report a previously undescribed case of late-onset vision loss due to retinal oxalosis in a patient with primary hyperoxaluria type 2 (PH2). Observations: An 82-year-old female with a history of biopsy-proven oxalate nephropathy developed vision loss 8 months after end stage kidney disease. She developed progressive retinal ischemia secondary to crystal deposition. She was presumed to have retinal oxalosis, and genetic testing confirmed PH2. Her retinopathy occurred once renal clearance fellow below hepatic oxalate production. The only effective treatment is kidney transplantation, but this patient was not a candidate. Conclusions and Importance: To date, this is the most delayed-onset and severe reported case of progressive ischemic retinopathy from PH2. Patients with systemic oxalosis should be referred for genetic testing, as there are new RNA interference treatments approved for other subtypes of primary hyperoxaluria. Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (© 2024 The Authors. Published by Elsevier Inc.)
Databáze:	MEDLINE
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