Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders.

Détails

ID Serval
serval:BIB_33901C26D732
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders.
Périodique
Klinische Monatsblätter für Augenheilkunde
Auteur(s)
Gaillard M.C., Matthieu J.M., Borruat F.X.
ISSN
0023-2165
Statut éditorial
Publié
Date de publication
2008
Peer-reviewed
Oui
Volume
225
Numéro
5
Pages
491-4
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article - Publication Status: ppublish
Résumé
BACKGROUND: Cobalamin C methylmalonic aciduria with homocystinuria (cblC disease) is a rare hereditary inborn error of cobalamin metabolism, characterised by neurological, haematological and ophthalmological abnormalities. PATIENTS AND METHODS: Three consecutive patients with Cblc disease were examined. Investigations included slit lamp and fundus examination and full-field ERG. RESULTS: A maculopathy associated with both photopic and scotopic abnormal ERG was present in two cases and a salt and pepper retinopathy with abnormal photopic ERG was detected in the third patient. CONCLUSIONS: Despite early treatment and regular metabolic controls, all our patients exhibited both retinal and ERG abnormalities. There was no correlation between funduscopic appearance and the type of photoreceptor dysfunction. A literature review disclosed a retinopathy in 29 / 70 cases with cblC disease, with an abnormal ERG in 8 of the 12 tested cases, most with retinopathy. Retinal dysfunction in cblC disease may be more frequent than previously thought, and can involve cones only or both rods and cones. We recommend a formal ocular examination with full-field ERG in patients with Cblc disease.
Mots-clé
Adolescent, Child, Preschool, Female, Homocystinuria/complications, Homocystinuria/diagnosis, Humans, Infant, Macular Degeneration/complications, Macular Degeneration/diagnosis, Male, Metabolism, Inborn Errors/complications, Metabolism, Inborn Errors/diagnosis, Methylmalonic Acid/urine
Pubmed
Web of science
Création de la notice
01/10/2009 14:03
Dernière modification de la notice
20/08/2019 13:19
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