May 2007
Volume 48, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2007
ATM Gene Variants in Patients With Bilateral Idiopathic Perifoveal Telangiectasis (Type II)
Author Affiliations & Notes
  • I. A. Barbazetto
    E.S. Harkness Eye Institute, Columbia University, New York, New York
  • M. Room
    E.S. Harkness Eye Institute, Columbia University, New York, New York
  • N. Yannuzzi
    Vitreous Retina Macula Consultants of New York, New York, New York
  • A. Bardel
    Vitreous Retina Macula Consultants of New York, New York, New York
  • G. Barile
    E.S. Harkness Eye Institute, Columbia University, New York, New York
  • L. Yannuzzi
    Vitreous Retina Macula Consultants of New York, New York, New York
  • R. Allikmets
    E.S. Harkness Eye Institute, Columbia University, New York, New York
  • Footnotes
    Commercial Relationships I.A. Barbazetto, None; M. Room, None; N. Yannuzzi, None; A. Bardel, None; G. Barile, None; L. Yannuzzi, None; R. Allikmets, None.
  • Footnotes
    Support The Macula Foundation, Inc.
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 3206. doi:
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    • Get Citation

      I. A. Barbazetto, M. Room, N. Yannuzzi, A. Bardel, G. Barile, L. Yannuzzi, R. Allikmets; ATM Gene Variants in Patients With Bilateral Idiopathic Perifoveal Telangiectasis (Type II). Invest. Ophthalmol. Vis. Sci. 2007;48(13):3206.

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

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Abstract

Purpose:: The etiology and genetic cause of idiopathic perifoveal telangiectasia is unknown. It is also not clear, if this phenotype represents a separate disease entity, or is a subphenotype of disorders with similar clinical presentation. As the first attempt to define the genetic factors underlying the disease, we screened a cohort of patients affected with bilateral acquired perifoveal telangiectasia for variation in the ATM gene responsible for ataxia telangiectasia.

Methods:: Twenty-nine patients diagnosed with bilateral acquired perifoveal telangiectasis (Yannuzzi classification: Type II) were enrolled and underwent standard ophthalmologic evaluation including visual acuity testing, fundus examination, stereo fundus photography and fluorescein angiography. All patients answered a standardized questionnaire including questions regarding smoking habits, medical and family history. Blood samples were obtained and isolated DNA screened for variation in the ATM gene by a combination of DHPLC and direct sequencing.

Results:: Nineteen female and 10 male patients with an average age of 59 years (range 39-76 years) and a median visual acuity of 20/50 were evaluated. Six patients described themselves as of Asian-Indian origin, one as of Hispanic origin and the remainder (22) as of European-American ancestry. Five patients had a family history of ocular telangiectasis or macular degeneration. Eight of 29 patients (28%) had been previously diagnosed with diabetes mellitus, 18/29 patients (62%) had been diagnosed with hypertension and 12/29 patients (41%) had a history of current or past smoking. Only 4 patients (14%) had no history of potential "vascular" risk factors. Potentially disease-associated variants in the ATM gene were identified in 59% of patients (13/22) of European-American ancestry. No such changes were identified in patients of Asian or Hispanic origin.

Conclusions:: Patients with bilateral acquired perifoveal telangiectasis of European-American ancestry present with high frequency of possible disease-associated ATM gene variation. In addition, vascular risk factors such as hypertension, diabetes and smoking may play a significant role in the development of the disease.

Keywords: macula/fovea • genetics • candidate gene analysis 
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