Late-onset retinal oxalosis in primary hyperoxaluria type 2

Rupak Bhuyan; Tyler Maggio; Christie Thomas; Meenakshi Sambharia; Karen Gehrs; Timothy Boyce

doi:10.1016/j.ajoc.2024.102156

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Late-onset retinal oxalosis in primary hyperoxaluria type 2

Journal article

Open access

Peer reviewed

Late-onset retinal oxalosis in primary hyperoxaluria type 2

Rupak Bhuyan, Tyler Maggio, Christie Thomas, Meenakshi Sambharia, Karen Gehrs and Timothy Boyce

American journal of ophthalmology case reports, Vol.36, 102156

12/2024

DOI: 10.1016/j.ajoc.2024.102156

PMCID: PMC11395740

PMID: 39282599

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https://doi.org/10.1016/j.ajoc.2024.102156View

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Abstract

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.

Crystalline retinopathy

Primary hyperoxaluria type 2

Retinal oxalosis

Details

Title: Subtitle: Late-onset retinal oxalosis in primary hyperoxaluria type 2
Creators: Rupak Bhuyan - University of Iowa
Tyler Maggio - Department of Internal Medicine, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA
Christie Thomas - University of Iowa
Meenakshi Sambharia - University of Iowa
Karen Gehrs - University of Iowa
Timothy Boyce - Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA
Resource Type: Journal article
Publication Details: American journal of ophthalmology case reports, Vol.36, 102156
Publisher: Elsevier Inc
DOI: 10.1016/j.ajoc.2024.102156
PMID: 39282599
PMCID: PMC11395740
ISSN: 2451-9936
eISSN: 2451-9936
Language: English
Date published: 12/2024
Academic Unit: Stead Family Department of Pediatrics; Obstetrics and Gynecology; Nephrology; Internal Medicine; Ophthalmology and Visual Sciences
Record Identifier: 9984699048102771

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