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Retina

The Latest in Gene Therapy for Retinal Disorders

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Genetic advances in the area of inherited retinal diseases are progressing rapidly, noted Karmen M Trzupek, MS, director of ocular and rare disease genetics services at InformedDNA in Redmond, WA, during the American Academy of Ophthalmology’s 2018 annual meeting in Chicago. For instance, the first FDA approved retinal gene therapy was approved in December 2017. The treatment is approved for confirmed biallelic RPE65 mutation-associated retinal dystrophy, which causes vision loss and can lead to complete blindness in some.

Inherited retinal diseases include:

  • Other foveal dystrophies, such as X linked retinoschisis
  • Macular dystrophies, such as Stargardt disease
  • Choroidopathies, such as chloridemia
  • Diffuse photoreceptor diseases, including those with stationary/congenital onset (such as LCA and achromatopsia); progressive/later onset (such as retinitis pigmentosa); or syndromic (such as Usher)

Genetic testing offers the following benefits to patients:

  • Diagnosis: More accurate prognosis, surveillance, and peace of mind
  • Inheritance: Improved genetic counseling; identification of family members to evaluate
  • Rule out symptomatic disease
  • Qualification for future therapy
  • Increased patient engagement

Consider these factors when selection a lab to work with: 

  • The lab’s testing strategy and detection rate
  • How it interprets and reports variants
  • How well it communicates with you
  • Cost
  • Setting: University, private lab, or research lab

Among the recommended labs: 

lab_chart
 

What you should expect from genetic counselors? Prior to testing, they will: 

  • Review the diagnosis or possible diagnoses
  • Collect family and medical history
  • Explain genetics, inheritance, and testing to patients
  • Prepare families for implications of results
  • Order tests and secure insurance authorization

After testing counselors will: 

  • Interpret results and verify variants
  • Help patients with family outreach
  • Provide community support
  • Discuss clinical trial and management options with patients

Trzupek K. Retinal frontiers: Updates in gene therapy and stem cell therapy. Talk presented at: AAO 2018 annual meeting; October, 26-30, 2018; Chicago.

 

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