April 2010
Volume 51, Issue 13
ARVO Annual Meeting Abstract  |   April 2010
The RP2 Phenotype and Pathogenetic Correlations in X-Linked Retinitis Pigmentosa
Author Affiliations & Notes
  • T. Jayasundera
    University of Michigan, Ann Arbor, Michigan
  • K. Branham
    University of Michigan, Ann Arbor, Michigan
  • M. Othman
    University of Michigan, Ann Arbor, Michigan
  • W. R. Rhoades
    University of Michigan Medical School, Ann Arbor, Michigan
  • A. Karoukis
    University of Michigan, Ann Arbor, Michigan
  • H. Khanna
    Ophthalmology-Kellogg Eye Ctr,
    University of Michigan, Ann Arbor, Michigan
  • A. Swaroop
    N-NRL, National Eye Institute, Bethesda, Maryland
  • J. R. Heckenlively
    Ophthal & Vis Sciences, Univ of Michigan-Kellogg Eye Ctr, Ann Arbor, Michigan
  • Footnotes
    Commercial Relationships  T. Jayasundera, None; K. Branham, None; M. Othman, None; W.R. Rhoades, None; A. Karoukis, None; H. Khanna, None; A. Swaroop, None; J.R. Heckenlively, None.
  • Footnotes
    Support  Foundation Fighting Blindness
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 4792. doi:
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      T. Jayasundera, K. Branham, M. Othman, W. R. Rhoades, A. Karoukis, H. Khanna, A. Swaroop, J. R. Heckenlively; The RP2 Phenotype and Pathogenetic Correlations in X-Linked Retinitis Pigmentosa. Invest. Ophthalmol. Vis. Sci. 2010;51(13):4792.

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

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Purpose: : To assess the phenotype of X-linked retinitis pigmentosa (XLRP) patients with RP2 mutations and correlate the findings with their genotype.

Methods: : Over 600 XLRP patients and carriers were screened over ten years for RP2 mutations. Twenty-five RP2 patients were evaluated clinically with standardized electroretinography (ERG), Goldmann visual fields, and ocular examinations. In addition, cases from the literature were used to augment genotype-phenotype correlations.

Results: : In our male cohort under the age of 12 years: 10/11 (91%) patients had macular pathology and 10/11 (91%) had visual acuities worse than 20/50. Two males from different families (ages 8 and 12) displayed a choroideremia-like fundus, and 9/11 (82%) of male patients were myopic with a mean error of -7.97D. Of patients with ERGs, 9/10 (90%) demonstrated severe rod-cone dysfunction. All three female carriers had macular atrophy in one or both eyes and were myopic (mean -6.23 D). We identified four novel RP2 mutations. All nine nonsense and five of seven missense mutations (71%) resulted in severe clinical presentations.

Conclusions: : Screening of the RP2 gene should be prioritized in patients less than 16 years of age characterized by X-linked inheritance, decreased BCVA (e.g.,>20/40), high myopia, and early-onset macular atrophy. Patients exhibiting a choroideremia-like fundus appearance and who do not have disease-causing mutations in the choroideremia gene (CHM) should be screened for variations in RP2. We believe that alterations in function play a significant role in RP2-associated disease pathogenesis.

Keywords: retinal degenerations: hereditary • gene/expression • genetics 

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