Article
Genotype-phenotype variability of retinal manifestation in primary hyperoxaluria type 1.
Ophthalmic genetics - 1 Apr 2018
Dulz S, Bigdon E, Atiskova Y, Schuettauf F, Cerkauskiene R, Oh J, Brinkert F
Abstract excerpt
BACKGROUND: 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...
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