The retinal phenotype in primary hyperoxaluria type 2 and 3.

ABSTRACT:

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 alterations are found in non-infantile PH1. Retinal disease has not systematically been investigated in patients with PH2 and PH3.

Methods

A comprehensive ophthalmic examination was performed in 19 genetically confirmed PH2 (n = 7) and PH3 (n = 12) patients (median age 11 years, range 3-59).

Results

Median best corrected visual acuity was 20/20. In 18 patients, no

SUBMITTER: Birtel J 

PROVIDER: S-EPMC10060347 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature