May 2008
Volume 49, Issue 13
ARVO Annual Meeting Abstract  |   May 2008
Genetics and Prevention of Blindness: The Potential of Genetic Counseling in Ophthalmology
Author Affiliations & Notes
  • P. H. Rim
    UNICAMP, Campinas, Brazil
  • A. S. Ramalho
    UNICAMP, Campinas, Brazil
  • L. A. Magna
    UNICAMP, Campinas, Brazil
  • Footnotes
    Commercial Relationships  P.H. Rim, None; A.S. Ramalho, None; L.A. Magna, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 468. doi:
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      P. H. Rim, A. S. Ramalho, L. A. Magna; Genetics and Prevention of Blindness: The Potential of Genetic Counseling in Ophthalmology. Invest. Ophthalmol. Vis. Sci. 2008;49(13):468. doi:

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

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Purpose: : Recent scientific and technological advances, from which one most evident application is blindness prevention, have also enhanced the potential of genetic counseling in Ophthalmology. It is estimated around one million blind people in Brazil today, figure which could be half reduced as a consequence of the adoption of early and prophylactic procedures, including genetic counseling. The purpose of this study is to verify the perception and behavior of Brazilian patients with severe genetic visual impairment regarding the role played by genetic counseling towards family planning.

Methods: : 53 patients (30 males and 23 females) with genetic functional blindness, age between 18 and 57 years (mean = 31 years; standard-deviation = 10 years), outpatients of a Brazilian medical school hospital, who have been followed up over one year period, have been invited for an interview about their knowledge and actions in the field of Genetics. In order to compare some social integration indicators (regular job, stable conjugal and reproductive relationship), a control sample was formed composed of 142 normal patients’ siblings (74 females and 68 males).

Results: : Though 58% of the patients have already had some knowledge about the genetic origin of their visual condition, only 45% of all of them have had received genetic counseling (provided by a geneticist in 25% of these cases) and only 23% of them intended to use the received information in the genetic counseling for their family planning. Familial recurrence of the same impaired genetic condition has been observed among 62.3% of all patients, while recurrence in the offspring has been detected in 3% of these individuals.Regarding the relationship of the patients with the community, the patients revealed social integration indicators statistically lower than those of their normal siblings in relation to a regular job and in relation to stable marital relationships No significant difference was observed in relation to the number of their children.

Conclusions: : The data herein obtained points to the need of increasing the awareness of the importance of genetic counseling, both among Brazilian Ophthalmologists and patients as well. Special emphasis should focus the convenience of relying the genetic counseling on a specific trained professional. And besides, in Brazil as well in other developing countries, a more pragmatical and a less theoretical assumption of genetic methodology seems to be an extremely important conduct.

Keywords: genetics • perception • low vision 

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