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Miscellaneous (20)

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Abstract #50589 Published in IGR 14-2

Juvenile glaucoma in propionic acidemia

Rosentreter A; Gaki S; Dinslage S; Dietlein TS
Ophthalmologe 2012; 109: 1211-1213

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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.

Full article

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Classification:

9.1.2 Juvenile glaucoma (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)

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