July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
Building Blocks of an Ophthalmic Genetics Center: from Clinical Diagnosis to Future Gene Therapy
Author Affiliations & Notes
  • Irene H Maumenee
    Ophthalmology, Columbia University, New York, New York, United States
  • Footnotes
    Commercial Relationships   Irene Maumenee, None
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    Support  None
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 3489. doi:
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      Irene H Maumenee; Building Blocks of an Ophthalmic Genetics Center: from Clinical Diagnosis to Future Gene Therapy
      . Invest. Ophthalmol. Vis. Sci. 2018;59(9):3489.

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

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Purpose : Genetic factors play a major role in an estimated 50% of patients with vision loss worldwide. Clinical knowledge, methods of molecular analysis and prospects of gene therapy have advanced to the point, where all teaching hospitals ought to incorporate an eye genetics center into their academic subspecialties. We are outlining the paths necessary to develop the basic infrastructure for ophthalmic genetics centers.

Methods : Required skills for ophthalmic geneticists:
: Some 2500 genetic eye diseases have been described. We recognize over 300 genes leading to retinitis pigmentosa; an unknown number of additional genes remains unknown. Knowledge of genetic mechanisms in anterior segment diseases is advancing. Clinicians ought to understand the genetic mechanisms underlying diseases: this is obvious for retinal diseases and systemic diseases with ocular involvement and important for anterior segment diseases. Pedigree interpretation: Modes of inheritance are ascertained from pedigrees, deduced from phenotypes and confirmed by DNA analysis. Molecular analysis: Laboratories performing DNA diagnoses are being established around the World. Interpretation of sequencing results is an essential skill of ophthalmic geneticists. Presymptomatic diagnosis is a necessary step for successful therapy through early intervention. The costs of analysis are dropping, but still considered high by patients and insurance companies as long as gene therapy is not available. Genetic counseling: Genetic advice includes description of the disease, its natural history, genetic transmission and availability of present or future therapy. Transmission of information to a patient or family ought to be provided by a knowledgeable physician or designee.

Results : The following skills need to be taught to train ophthalmic geneticists and build genetic centers: Diagnosis and natural history of a large number of diseases; pedigree interpretation; molecular analysis and management of data bases.

Conclusions : Now is the time to train ophthalmic geneticists and establish centers dedicated towards diagnosis and management of patients with genetic eye diseases. Given the lack of qualified ophthalmic geneticists, a curriculum is being developed for double board certification in ophthalmology and genetics. Only through extensive planning can the transition to gene therapy be facilitated.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.


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