April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Phenotype of two Consanguineous Autosomic Recessive Retinitis Pigmentosa Families Caused by PDE6A and PDE6B Mutations
Author Affiliations & Notes
  • Leila Largueche
    Hedi Rais Inst of Ophthalmology, Tunis, Tunisia
    Oculogenetics unit, UR 17/04, Tunis, Tunisia
  • Karim Baklouti
    Ophthalmology, CHU, Nabeul, Tunisia
  • Ahlem Merdassi
    Hedi Rais Inst of Ophthalmology, Tunis, Tunisia
  • Ibtissem Chouchane
    Hedi Rais Inst of Ophthalmology, Tunis, Tunisia
    Oculogenetics unit, UR 17/04, Tunis, Tunisia
  • Mejda Bouladi
    Hedi Rais Inst of Ophthalmology, Tunis, Tunisia
  • Isabelle Favre
    Ophthalmology, IRO-Institute for Research in Ophthalmology, Sion, Switzerland
  • Hasret Bajrami
    Ophthalmology, IRO-Institute for Research in Ophthalmology, Sion, Switzerland
  • Daniel F. Schorderet
    Ophthalmology, IRO-Institute for Research in Ophthalmology, Sion, Switzerland
  • Francis L. Munier
    Ophthalmology Department, Jules-Gonin Eye Hospital, Lausanne, Switzerland
  • Leila El Matri
    Hedi Rais Inst of Ophthalmology, Tunis, Tunisia
    Oculogenetics unit, UR 17/04, Tunis, Tunisia
  • Footnotes
    Commercial Relationships  Leila Largueche, None; Karim Baklouti, None; Ahlem Merdassi, None; Ibtissem Chouchane, None; Mejda Bouladi, None; Isabelle Favre, None; Hasret Bajrami, None; Daniel F. Schorderet, None; Francis L. Munier, None; Leila El Matri, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 2372. doi:
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      Leila Largueche, Karim Baklouti, Ahlem Merdassi, Ibtissem Chouchane, Mejda Bouladi, Isabelle Favre, Hasret Bajrami, Daniel F. Schorderet, Francis L. Munier, Leila El Matri; Phenotype of two Consanguineous Autosomic Recessive Retinitis Pigmentosa Families Caused by PDE6A and PDE6B Mutations. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2372.

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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 (RP) caused by a PDE6A and PDE6B mutations.

Methods: : All accessible familiy members were included. Affected members from each family underwent full ophthalmic examination with best corrected Snellen visual acuity, fundus photography, optical coherence tomography and full field electroretinography. Haplotype analyses were used to test linkage in the family to 20 arRP loci, including ABCA4, LRAT, USH2A, RP29, CERKL, CNGA1, CNGB1, CRB1, EYS, RP28, MERTK, NR2E3, PDE6A, PDE6B, RGR, RHO, RLBP1, TULP1. All exons and intron-exon junctions of candidate genes not excluded by haplotype analysis were PCR amplified and directly sequenced.

Results: : Two family members were clinically affected with arRP in each pedigree. Age range at baseline was 43 to 54 years (mean age at baseline was 48 years). For all affected members, night blindness appeared since early childhood (at 4-5 years old) without nystagmus but with a severe progression and mild to severe loss of central vision at the second decade. Visual acuity at baseline ranged from 20/500 to 20/63. Kinetic visual field was severely constricted for one patient and unrealizable for the others. Funduscopic examination revealed 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 macular atrophy in both cases of family A, and macular edema in the patients of family B. ERG showed a loss of both rod and cone responses. Haplotype analysis revealed homozygosity for microsatellites markers flanking PDE6A and PDE6B in family A and B, respectively. Sequencing of PDE6A in family A showed a homozygous R102S mutation. In family B, sequencing identified a D600N homozygous mutation. Both mutations cosegregated within each respective pedigree.

Conclusions: : For these families, affected members developed a severe form of non syndromic arRP. The two reported mutations have already been described. Our data further contribute to our understanding of genotype-phenotype correlations.

Keywords: genetics • retinal degenerations: hereditary • gene screening 
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