September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
A combination of oculopharyngeal muscular dystrophy and a variant of enhanced S-cone syndrome in Bukharan Jews due to linked mutations in PABPN1 and NRL
Author Affiliations & Notes
  • Tamar Ben-Yosef
    Technion, Haifa, Israel
  • Hadas Newman
    Ophthalmology, Tel-Aviv Medical Center, Tel Aviv, Israel
  • Itzhak Braverman
    Hillel Yaffe Medical Center, Hadera, Israel
    Technion, Haifa, Israel
  • Sergiu Blumen
    Hillel Yaffe Medical Center, Hadera, Israel
    Technion, Haifa, Israel
  • Rana Hanna
    Hillel Yaffe Medical Center, Hadera, Israel
  • Beatrice Tiosano
    Hillel Yaffe Medical Center, Hadera, Israel
  • Ido Perlman
    Technion, Haifa, Israel
    Ophthalmology, Tel-Aviv Medical Center, Tel Aviv, Israel
  • Footnotes
    Commercial Relationships   Tamar Ben-Yosef, None; Hadas Newman, None; Itzhak Braverman, None; Sergiu Blumen, None; Rana Hanna, None; Beatrice Tiosano, None; Ido Perlman, None
  • Footnotes
    Support  Foundation Fighting Blindness (FFB) (grant number BR-GE-0214-0639-TECH)
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 3165. doi:
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    • Get Citation

      Tamar Ben-Yosef, Hadas Newman, Itzhak Braverman, Sergiu Blumen, Rana Hanna, Beatrice Tiosano, Ido Perlman; A combination of oculopharyngeal muscular dystrophy and a variant of enhanced S-cone syndrome in Bukharan Jews due to linked mutations in PABPN1 and NRL. Invest. Ophthalmol. Vis. Sci. 2016;57(12):3165.

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

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Abstract

Purpose : To investigate the basis for inherited retinal dystrophy (IRD) in Bukharan Jewish patients with oculopharyngeal muscular dystrophy (OPMD), who are homozygotes for the (GCN)13 mutation of the PABPN1 gene.

Methods : PCR amplification and direct sequencing were used for mutation testing. Ophthalmic evaluation included best-corrected visual acuity, biomicroscopic examination, optical coherence tomography, fundus autofluorescence and electroretinography (ERG).

Results : A recessive mutation of the NRL gene was found to be linked to a dominant mutation of the PABPN1 gene on chromosome 14q11.1. Of 15 chromosomes from unrelated Bukharan Jewish OPMD patients, harboring the PABN1 mutation, 12 harbored the NRL mutation as well. While heterozygotes for the NRL mutation demonstrated normal fundi and ERG responses, OPMD patients homozygotes for the NRL mutation developed IRD. Detailed evaluation of one homozygote patient revealed that his ERG responses were dominated by short-wavelength-sensitive mechanisms, with no detectable rod function, very similar to the ERG responses in enhanced S-cone syndrome.

Conclusions : Our findings provide an explanation for the occurrence of IRD in OPMD homozygotes of Bukharan Jewish origin. Moreover, they indicate that Bukharan Jewish OPMD patients are at high-risk for carrying the mutation in the NRL gene, and should be offered appropriate genetic counseling and testing. While dominant mutations of NRL were shown to cause retinitis pigmentosa, the recessive NRL mutation described here appears to be associated with a distinct retinal phenotype, dominated by S-cone responses with no rod function.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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