Genotype–phenotype variability of retinal manifestation in primary hyperoxaluria type 1

ABSTRACTBackground: Primary hyperoxaluria type 1 (PH1) is a rare congenital metabolic disorder of the glyoxylate pathway, which manifests with nephrocalcinosis, urolithiasis, and end-stage renal failure (ESRD) as well as deposition of oxalate crystals within ocular tissues. This report demonstrates classical ocular features of PH1 of the posterior pole and furthermore highlights the ocular genotype–phenotype variability among siblings with identical compound heterozygous alanine-glyoxylate aminotransferase (AGXT) mutations.Materials and Methods: Two siblings, an 8-year-old boy and an 18-year-old girl, with genetically confirmed AGXT mutation (c.364C>T (p.R122X) and c.33dupC), but different renal phenotype underwent an ophthalmic examination, including slit-lamp examination and funduscopy as well as optical coherence tomography (OCT), near-infrared autofluorescence (NIA), and microperimetry examination.Results: The 8-year-old boy presented with a best-corrected visual acuity (BCVA) of 20/630. Fundus examin...