[Juvenile glaucoma in propionic acidemia].
Propionic acidemia (PA) is a rare autosomal recessive disorder resulting from deficiency of the biotin-dependent enzyme propionyl-CoA carboxylase, which is necessary for the catabolism of branched chain amino acids and odd-chain fatty acids. Although optic atrophy was documented in four cases, no glaucomatous optic atrophy has yet been described. This article describes the first case of a 12-year-old boy with PA showing bilateral glaucomatous optic disc atrophy due to dysgenetic changes of the angle of the anterior chamber.
Zentrum für Augenheilkunde, Universiät zu Köln, Joseph-Stelzmann-Str. 9, 50931, Köln, Deutschland. andre.rosentreter@googlemail.com
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Rosentreter
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Gaki
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Dietlein
D002648:Child; D003937:Diagnosis, Differential; D005901:Glaucoma / Q000151:congenital / Q000175:diagnosis* / Q000628:therapy*; D006801:Humans; D008297:Male; D013508:Ophthalmologic Surgical Procedures / Q000379:methods*; D056693:Propionic Acidemia / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D019651:Plastic Surgery Procedures / Q000379:methods*; D016896:Treatment Outcome