Zapfen-Stäbchen-Dystrophie durch eine neue reinerbige RPE65-Mutation in Leberscher kongenitaler Amaurose Cone-Rod Dystrophy Caused by a Novel Homozygous RPE65 Mutation in Leber Congenital Amaurosis.

Détails

ID Serval
serval:BIB_762C1A555EE1
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Zapfen-Stäbchen-Dystrophie durch eine neue reinerbige RPE65-Mutation in Leberscher kongenitaler Amaurose Cone-Rod Dystrophy Caused by a Novel Homozygous RPE65 Mutation in Leber Congenital Amaurosis.
Périodique
Klinische Monatsblatter Fur Augenheilkunde
Auteur(s)
Jakobsson C., Othman I.S., Munier F.L., Schorderet D.F., Abouzeid H.
ISSN
1439-3999 (Electronic)
ISSN-L
0023-2165
Statut éditorial
Publié
Date de publication
2014
Peer-reviewed
Oui
Volume
231
Numéro
4
Pages
405-410
Langue
anglais
Notes
Publication types: JOURNAL ARTICLEPublication Status: ppublish
Résumé
Background: The aim of this study was to describe an unexpected phenotype in a family with Leber congenital amaurosis (LCA) due to a retinal pigment epithelium-specific protein 65 kDa (RPE65) homozygous mutation. History and Signs: We analyzed a family from Yemen in which 3 individuals were affected with LCA. Linkage analysis using markers flanking the known LCA genes was done, followed by direct sequencing of RPE65. Therapy and Outcome: Severe visual impairment and night blindness were observed during infancy. We observed photophobia only in the 8-year-old patient. The youngest affected had bilateral hyperopia of + 3.50 and visual acuity of 1/60. The oldest two had visual acuity limited to hand movements in the right eye (OD) and counting fingers in the left eye (OS) for the oldest and of 5/60 OD, 6/60 OS for the other. They showed disc pallor, attenuated vessels, white flecks in the retina mid-periphery and bull's eye maculopathy. ERGs of the oldest child were completely unresponsive. Genomic sequencing identified a novel homozygous missense mutation, IVS2-3C > G, in the second RPE65 intron. Conclusions: We identified a novel LCA-related homozygous RPE65 mutation associated with a severe clinical presentation including an early and severe cone dysfunction. This is in contrast with the presentation associated with other RPE65 mutations predominantly causing rod-cone dystrophy with residual visual function.
Pubmed
Web of science
Création de la notice
05/05/2014 14:52
Dernière modification de la notice
19/03/2018 10:52
Données d'usage