Oxalosis (primary hyperoxaluria; lepoutre syndrome)

General: Autosomal recessive and acquired forms; metabolic disorders w 111b12b ith accumulation of oxalic acid in tissues; type I: glycolic aciduria, defect of 2-oxoglutarate/ glyoxylate carboligase; type II: glyceric aciduria, defect of D-glyceric dehydrogenase.

Ocular: Calcium oxalate deposits may be found in the retina; retinitis punctate albescens; macular degeneration of Stargardt; pigmentary retinopathy; black, geographic central macular subretinal patches; oxalate may deposit in the retinal pigment epithelium, outer plexiform layer, and nuclear layers of the retina.

Clinical: Recurrent calcium oxalate nephrolithiasis and nephrocalcinosis; progressive renal insufficiency; continuous excessive synthesis and excretion of oxalic acid; nausea; vomiting; abdominal pain; renal colic; calculi in urine; tetany.

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Sakamoto T, et al. Ocular histopathologic findings in a 46-year-old man with primary hyperoxaluria. Arch Ophthalmol 1991; 109:384-387.