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Keywords:

  • genetic counseling;
  • genetic testing;
  • ophthalmology;
  • retinitis pigmentosa

Abstract

The diagnosis of an inherited retinal dystrophy can have a significant impact on both the physical and emotional lives of patients and their families. In order to optimize the health and quality of life for these individuals, a comprehensive approach to clinical care starting at the time of diagnosis and continuing throughout their lifespan is critical. A multidisciplinary team approach integrating ophthalmic and genetic counseling services can optimize the diagnostic process and long-term management of these patients. When vision loss is first appreciated, the diagnostic specificity of an ophthalmic evaluation can be enhanced by a detailed genetic work-up. This evaluation can help confirm the diagnosis and allow for accurate risk counseling of the patient and their family. Genetic counseling is critical at the time of diagnosis and is an opportunity to provide education about the diagnosis, discuss low-vision rehabilitation, and explore impacts on academics and employment. In addition, counseling can help patients deal with the current psychological aspects of their vision loss, prepare for the lifelong impact of their diagnosis and over time adjust to the impact of progressive vision loss.