Retinal Dystrophy In The Oculo-auricular Syndrome Due to HMX1 Mutation.

Détails

ID Serval
serval:BIB_72066EAE2235
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 Dystrophy In The Oculo-auricular Syndrome Due to HMX1 Mutation.
Périodique
Ophthalmic Genetics
Auteur(s)
Vaclavik V., Schorderet D.F., Borruat F.X., Munier F.L.
ISSN
1744-5094 (Electronic)
ISSN-L
1381-6810
Statut éditorial
Publié
Date de publication
2011
Peer-reviewed
Oui
Volume
32
Numéro
2
Pages
114-117
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Résumé
Purpose: To report on the clinical and electrophysiological findings in a patient with oculo-auricular syndrome due to HMX1 mutation, with a follow-up of 12 years. Background: Oculo-auricular syndrome (MIM: 612109) is a rare developmental recessive condition affecting the eye and external ear that results from a mutation in the HMX1 gene. Previously described ocular abnormalities include bilateral microcornea, posterior synechiae, cataract, chorioretinal colobomas and rod-cone dystrophy. Methods: Retrospective chart review of an affected boy followed over a period of 12 years who had serial complete ophthalmologic examinations, fundus photographs, Goldmann perimetry and full-field electroretinograms (ERG). Results: Initial ERG tracings revealed generalized rod more than cone dysfunction. Thereafter, a rapid deterioration in rod and cone function was detected on follow up ERGs. Conclusion: The retinal degeneration in the recessively inherited oculo-auricular syndrome is a progressive rod-cone dystrophy. Visual prognosis is guarded considering the progressive nature of the retinal dystrophy in early infancy.
Pubmed
Web of science
Création de la notice
18/04/2011 18:27
Dernière modification de la notice
20/08/2019 14:30
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