April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Phenotype in Two Consanguineous Tunisian Families With non Syndromic Autosomic Recessive Retinitis Pigmentosa Caused by an USH2A Mutation
Author Affiliations & Notes
  • Ahmed Chebil
    Department B of Ophthalmology,
    Hedi Rais Institute of Ophthalmology, Tunis, Tunisia
    Oculogenetics unit, UR 17/04, Tunis, Tunisia
  • Leila Largueche
    Department B of Ophthalmology,
    Hedi Rais Institute of Ophthalmology, Tunis, Tunisia
    Oculogenetics unit, UR 17/04, Tunis, Tunisia
  • Fedra Kort
    Department B of Ophthalmology,
    Hedi Rais Institute of Ophthalmology, Tunis, Tunisia
  • Rim Bouraoui
    Department B of Ophthalmology,
    Hedi Rais Institute of Ophthalmology, Tunis, Tunisia
  • Kaouther Derouiche
    Hedi Rais Institute of Ophthalmology, Tunis, Tunisia
    Oculogenetics unit, UR 17/04, Tunis, Tunisia
  • Isabelle Favre
    Ophthalmology, IRO-Institute for Research in Ophthalmology, Sion, Switzerland
  • Hasret Bajrami
    Ophthalmology, IRO-Institute for Research in Ophthalmology, Sion, Switzerland
  • Francis L. Munier
    Ophthalmology Department, Jules-Gonin Eye Hospital, Lausanne, Switzerland
  • Daniel F. Schorderet
    Ophthalmology, IRO-Institute for Research in Ophthalmology, Sion, Switzerland
  • Leila El Matri
    Department B of Ophthalmology,
    Hedi Rais Institute of Ophthalmology, Tunis, Tunisia
    Oculogenetics unit, UR 17/04, Tunis, Tunisia
  • Footnotes
    Commercial Relationships  Ahmed Chebil, None; Leila Largueche, None; Fedra Kort, None; Rim Bouraoui, None; Kaouther Derouiche, None; Isabelle Favre, None; Hasret Bajrami, None; Francis L. Munier, None; Daniel F. Schorderet, None; Leila El Matri, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 2395. doi:
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      Ahmed Chebil, Leila Largueche, Fedra Kort, Rim Bouraoui, Kaouther Derouiche, Isabelle Favre, Hasret Bajrami, Francis L. Munier, Daniel F. Schorderet, Leila El Matri; Phenotype in Two Consanguineous Tunisian Families With non Syndromic Autosomic Recessive Retinitis Pigmentosa Caused by an USH2A Mutation. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2395.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

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.

Keywords: genetics • retinal degenerations: hereditary • gene screening 
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