May 2005
Volume 46, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2005
Clinical and Genetic Characterization of Patients With Pseudo–Vitellifom Macular Dystrophy and Cuticular Drusen
Author Affiliations & Notes
  • I.A. Barbazetto
    E Harkness Eye Inst, Columbia University, New York, NY
  • N.A. Yannuzzi
    E Harkness Eye Inst, Columbia University, New York, NY
  • J.E. Merriam
    E Harkness Eye Inst, Columbia University, New York, NY
  • J. Zernant
    E Harkness Eye Inst, Columbia University, New York, NY
  • E. Peiretti
    Vitreous–Retina–Macula Consultants of New York, New York, NY
  • C.M. Klais
    Vitreous–Retina–Macula Consultants of New York, New York, NY
  • L.A. Buckta
    E Harkness Eye Inst, Columbia University, New York, NY
  • L.A. Yannuzzi
    Vitreous–Retina–Macula Consultants of New York, New York, NY
  • R. Allikmets
    E Harkness Eye Inst, Columbia University, New York, NY
  • Footnotes
    Commercial Relationships  I.A. Barbazetto, None; N.A. Yannuzzi, None; J.E. Merriam, None; J. Zernant, None; E. Peiretti, None; C.M. Klais, None; L.A. Buckta, None; L.A. Yannuzzi, None; R. Allikmets, None.
  • Footnotes
    Support  NIH Grant 13435, RPB and Macula Foundation
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 1818. doi:
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      I.A. Barbazetto, N.A. Yannuzzi, J.E. Merriam, J. Zernant, E. Peiretti, C.M. Klais, L.A. Buckta, L.A. Yannuzzi, R. Allikmets; Clinical and Genetic Characterization of Patients With Pseudo–Vitellifom Macular Dystrophy and Cuticular Drusen . Invest. Ophthalmol. Vis. Sci. 2005;46(13):1818.

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

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Abstract

Abstract: : Purpose: To study the possible role of the ABCA4, VMD2, TIMP–3, peripherin/RDS and fibulin 5 genes in the disease phenotype of patients with pseudo–vitelliform macular dystrophy and cuticular drusen. Methods: Thirty patients, ages 40–87, diagnosed with pseudo–vitelliform macular dystrophy were ascertained at MEETH and Columbia University. The presence of cuticular drusen was confirmed by clinical examination and fundus photography; fluorescein angiography and autofluorescence images were analyzed when available. DNA samples were obtained from all study subjects and screened for mutation in the ABCA4, VMD2, TIMP–3, peripherin/RDS and fibulin 5 genes by a combination of DHPLC, microarray screening and direct sequencing. Results: All patients presented with cuticular drusen and pseudo–vitelliform detachment (n = 22) or atrophic changes following regression of the detachment (n = 8). In addition, 4 patients presented with geographic atrophy, three patients presented with choroidal neovascularization and 1 patient was diagnosed with both. Twelve patients had not only cuticular, but also soft indistinct drusen. Visual acuity ranged from 20/20 to CF. The screening of 30 patients revealed the I32V mutation in peripherin /RDS in one patient and 2 ABCA4 variants, T897I and G1961E, in 2 more patients. All three variants have been considered disease–associated in multiple earlier studies. No amino acid–altering variants were detected in VMD2, TIMP–3, and fibulin 5 genes in the 30 patients. Conclusions:Possibly disease–associated mutations were detected in 3/30 (10%) of patients presenting with pseudo–vitellifom macular dystrophy and cuticular drusen; therefore, ABCA4 and RDS mutations may be involved in a small fraction of the described (sub)–phenotype. Fibulin 5 mutations have been recently linked to patients with cuticlar drusen and macular degeneration however, this study, although relatively small, did not confirm this observation.

Keywords: gene screening • retinal degenerations: hereditary 
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