Titre
Phenotype in Two Consanguineous Tunisian Families With non Syndromic Autosomic Recessive Retinitis Pigmentosa Caused by an USH2A Mutation
Type
abstract de conférence/colloque
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Auteur(s)
Chebil, A.
Auteure/Auteur
Largueche, L.
Auteure/Auteur
Kort, F.
Auteure/Auteur
Bouraoui, R.
Auteure/Auteur
Derouiche, K.
Auteure/Auteur
Favre, I.
Auteure/Auteur
Bajrami, H.
Auteure/Auteur
Munier, F.L.
Auteure/Auteur
Schorderet, D.F.
Auteure/Auteur
El Matri, L.
Auteure/Auteur
Liens vers les personnes
Liens vers les unités
Titre du livre ou conférence/colloque
ARVO E-Abstract 2395/D658
Unité
Association for Research in Vision and Ophthalmology
Adresse
Fort Lauderdale
Statut éditorial
Publié
Date de publication
2011
Peer-reviewed
Oui
Langue
anglais
Résumé
Purpose: To assess the clinical phenotype in two consanguineous Tunisian families with non syndromic autosomic recessive retinitis Pigmentosa (arRP) caused by an USH2A mutation.Methods: All accessible members of family A and B were included and underwent full ophthalmic examination with best corrected Snellen visual acuity, kinetic visual field testing, fundus photography, optical coherence tomography and full field electroretinography. Haplotype analyses were used to test linkage in the families to 20 arRP loci, including ABCA4, LRAT, USH2A, RP29, CERKL, CNGA1, CNGB1, CRB1, EYS, RP28, MERTK, NR2E3, PDE6A, PDE6B, RGR, RHO, RLBP1, TULP1. In addition, index patients were sent to AsperOphthalmics for arRP mutation screening.Results: Twenty three patients from the two families were ascertained for the study. Eight of the 23 members were clinically affected with arRP without hearing loss. Age range at baseline was 35 to 63 years (mean age was 46.5 years). For all affected members, night blindness appeared during the second decade. Visual acuity at baseline ranged from 20/50 to 20/32. Kinetic visual field was severely constricted. Fundus examination revealed typical RP changes with bone spicule-shaped pigment deposits in the mid periphery along with atrophy of the retina, narrowing of the vessels and waxy optic discs. Tomograms showed a thinning and even loss the outer nuclear layer of the fovea. ERG was unrecordable in scotopic conditions and the cone responses were markedly hypovolted. Haplotype analysis did not reveal any homozygosity. Screening at AsperOphthalmis showed a compound heterozygous [p.A1953G]+[p.I5126T] in family A and [p.G713R]+[p.W4149R] in family B.Conclusions: For these families, changes were typical of those that have been described in patients with moderate to severe forms of non syndromic recessive RP. Our findings support the need to consider possible involvement of USH2A not only in patients with Usher syndrome but also in patients with non syndromc arRP. Despite consanguinity, the presence of non-homozygous mutants illustrates the complexity of molecular analysis.
PID Serval
serval:BIB_322E94540650
Date de création
2012-01-21T14:52:32.577Z
Date de création dans IRIS
2025-05-20T17:55:39Z