April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Exclusion of Linkage Between the MFRP Gene and Autosomal Recessive Nanophthalmos Disease in a Consanguineous Tunisian Family
Author Affiliations & Notes
  • L. Largueche
    Hedi Rais Inst of Ophthalmology, Tunis, Tunisia
  • I. Chouchene
    Hedi Rais Inst of Ophthalmology, Tunis, Tunisia
    Molecular Investigation of Genetic Orphan Disease Unit, Pasteur institute, Tunis, Tunisia
  • K. Baklouti
    Hedi Rais Inst of Ophthalmology, Tunis, Tunisia
  • F. Ouechtati
    Molecular Investigation of Genetic Orphan Disease Unit, Pasteur institute, Tunis, Tunisia
  • K. Derouiche
    Hedi Rais Inst of Ophthalmology, Tunis, Tunisia
  • Y. Bouyacoub
    Molecular Investigation of Genetic Orphan Disease Unit, Pasteur institute, Tunis, Tunisia
  • S. Abdelhak
    Molecular Investigation of Genetic Orphan Disease Unit, Pasteur institute, Tunis, Tunisia
  • L. El Matri
    Hedi Rais Inst of Ophthalmology, Tunis, Tunisia
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 3077. doi:
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      L. Largueche, I. Chouchene, K. Baklouti, F. Ouechtati, K. Derouiche, Y. Bouyacoub, S. Abdelhak, L. El Matri; Exclusion of Linkage Between the MFRP Gene and Autosomal Recessive Nanophthalmos Disease in a Consanguineous Tunisian Family. Invest. Ophthalmol. Vis. Sci. 2010;51(13):3077.

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Abstract

Purpose: : To investigate the molecular etiology of an autosomal recessive nanophthalmos in a Tunisian consanguineous multiplex family.

Methods: : In the reported multiplex nuclear family, the parents are consanguineous and the number of their siblings was 11 (two sons and nine daughters). All the family members underwent ophthalmologic investigations including visual acuity measurement, refraction, A and B scan ultrasonography and fundus examination. After written informed consent, the genomic DNA was isolated from whole blood leucocytes from nine healthy and five affected family members according to standard salting out procedure. The MFRP gene was analysed as a candidate gene by genotyping of all available individuals with three fluorescent dye labelled dinucleotide CA repeat markers [cen-D11S4104, MFRP gene, D11S924, D11S925- tel]. Multipoint parametric linkage analysis was performed using the MERLIN software.

Results: : We report a multiplex consanguineous Tunisian family with non syndromic nanophthalmos. At the time of the clinical examination, the age of the five affected members ranged from 19 to 37 years (mean 28 years). They presented with small eyes with small corneal diameter. The visual acuity varied between 2/10 and 4/10. The objective refraction revealed a significant hyperopia within the range +10 to +18 diopters (mean +14 diopters).A and B mode ultrasonography revealed short axial length (range 15.4-16.7 mm) and high lens/eye volume ratio. The examination of the fundus revealed the absence of the retinitis pigmentosa signs. One affected girl presented angle-closure glaucoma. In the reported family, the nanophthalmos disease segregates as an autosomal recessive trait as the parents of the five affected siblings are healthy. Genotyping results revealed that the patients did not share a common haplotype and multipoint analysis clearly ruled out linkage of the studied family to the MFRP gene (the value of LOD score < -2). Thus confirming the exclusion of the involvement of this gene in the nanophthlmos disease within this family.

Conclusions: : Exclusion of this gene involvement in this family suggests the genetic heterogeneity of the autosomal recessive form of nanophthalmos.

Keywords: genetics • development • hyperopia 
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