June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
Novel RPGRIP1 mutation in Leber congenital amaurosis patients
Author Affiliations & Notes
  • Imen Habibi
    Institute for Research in Ophthalmology, Sion, Switzerland
    Department B of Ophthalmology, Research Laboratory of Oculogenetic (LR14SP01), Hedi Rais Institute of Ophthalmology, Tunis, Tunisia
  • Yousra Falfoul
    Department B of Ophthalmology, Research Laboratory of Oculogenetic (LR14SP01), Hedi Rais Institute of Ophthalmology, Tunis, Tunisia
  • Ahmed Chebil
    Department B of Ophthalmology, Research Laboratory of Oculogenetic (LR14SP01), Hedi Rais Institute of Ophthalmology, Tunis, Tunisia
  • Leila El Matri
    Department B of Ophthalmology, Research Laboratory of Oculogenetic (LR14SP01), Hedi Rais Institute of Ophthalmology, Tunis, Tunisia
  • Daniel F Schorderet
    Institute for Research in Ophthalmology, Sion, Switzerland
  • Footnotes
    Commercial Relationships   Imen Habibi, None; Yousra Falfoul, None; Ahmed Chebil, None; Leila El Matri, None; Daniel Schorderet, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 3239. doi:
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    • Get Citation

      Imen Habibi, Yousra Falfoul, Ahmed Chebil, Leila El Matri, Daniel F Schorderet; Novel RPGRIP1 mutation in Leber congenital amaurosis patients. Invest. Ophthalmol. Vis. Sci. 2017;58(8):3239.

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

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Abstract

Purpose : To localize and identify the gene and mutations causing a Leber congenital amaurosis (LCA) in a Tunisian family

Methods : We performed a clinical and molecular genetic study of a consanguineous Tunisian family with two individuals affected with LCA. DNA sample from the index patient was subjected to whole exome sequencing (WES). Variants localized in homozygous regions were validated by Sanger sequencing. Familial segregation was performed.

Results : The index patient was 30 years old and reported congenital nystagmus. Night blindness and visual loss appeared during first years of life. Visual acuity was limited to hand motion. Fundus 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. Electroretinogram was unrecordable in both scotopic and photopic conditions. Homozygosity mapping and WES identified a homozygous genomic region harboring RPGRIP1. Sequencing analysis revealed a homozygous c.3113_3114delCT mutation of RPGRIP1 in both patients. The deletion results in a frameshift change p.(T1038Rfs*8).

Conclusions : We identified a novel mutation p.(T1038Rfs*8), in a Tunisian family with LCA. This mutation expands the mutation spectrum of RPGRIP1 and helps to further study molecular pathogenesis of LCA.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.

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