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Article

The retinal phenotype in primary hyperoxaluria type 2 and 3.

Pediatric nephrology (Berlin, Germany) - 1 May 2023

Birtel Johannes, Diederen Roselie M, Herrmann Philipp, Kaspar Sophie, Beck Bodo B, Garrelfs Sander F, Hoppe Bernd, Charbel Issa Peter

Abstract excerpt

BACKGROUND: The primary hyperoxalurias (PH1-3) are rare inherited disorders of the glyoxylate metabolism characterized by endogenous overproduction of oxalate. As oxalate cannot be metabolized by humans, oxalate deposits may affect various organs, primarily the kidneys, bones, heart, and eyes. Vision loss induced by severe retinal deposits is commonly seen in infantile PH1; less frequently and milder retinal...

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Identifiers

PMID: 36260161
DOI: 10.1007/s00467-022-05765-1
PMCID: PMC10060347

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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