" /> Hyperornithinaemia - CISMeF





Preferred Label : Hyperornithinaemia;

ICD-11 definition : Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence.;

ICD-11 synonym : Ornithine oxo-acid aminotransferase deficiency; Ornithine keto-acid transaminase deficiency; HOGA - [hyperornithinaemia - gyrate atrophy of choroid and retina]; Ornithine aminotransferase deficiency; hyperornithinaemia - gyrate atrophy of choroid and retina; Generalised gyrate choroid atrophy; Ornithinaemia;

ICD-11 acronym : HOGA;

ICD-11 inclusion : ornithinaemia Type 1; ornithinaemia Type 2; OAT - [ornithine oxo-acid aminotransferase] deficiency; ornithine-oxo-acid amino acid transferase deficiency;

Détails


Vous pouvez consulter :

Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence.

Nous contacter.
26/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.