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Oxalosis (primary hyperoxaluria; lepoutre syndrome)


Oxalosis (Primary Hyperoxaluria; Lepoutre Syndrome)

General: Autosomal recessive and acquired forms; metabo 444i89e lic disorders with 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.

Francois J. Metabolic tapetoretinal degenerations. Surv Ophthalmol 1982; 26:293-333.

Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.

Rowe S, et al. Ophthalmologic manifestations of genitourinary diseases. Urology 1992; 39:523-525.

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




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