Achromatopsia as a Potential Candidate for Gene Therapy

  • Ji-Jing Pang
  • John Alexander
  • Bo Lei
  • Wentao Deng
  • Keqing Zhang
  • Qiuhong Li
  • Bo Chang
  • William W. Hauswirth
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 664)


Achromatopsia is an autosomal recessive retinal disease involving loss of cone function that afflicts approximately 1 in 30,000 individuals. Patients with achromatopsia usually have visual acuities lower than 20/200 because of the central vision loss, photophobia, complete color blindness and reduced cone-mediated electroretinographic (ERG) amplitudes. Mutations in three genes have been found to be the primary causes of achromatopsia, including CNGB3 (beta subunit of the cone cyclic nucleotide-gated cation channel), CNGA3 (alpha subunit of the cone cyclic nucleotide-gated cation channel), and GNAT2 (cone specific alpha subunit of transducin). Naturally occurring mouse models with mutations in Cnga3 (cpfl5 mice) and Gnat2 (cpfl3 mice) were discovered at The Jackson Laboratory. A natural occurring canine model with CNGB3 mutations has also been found. These animal models have many of the central phenotypic features of the corresponding human diseases. Using adeno-associated virus (AAV)-mediated gene therapy, we and others show that cone function can be restored in all three models. These data suggest that human achromatopsia may be a good candidate for corrective gene therapy.


Cone Function Central Vision Loss Mediate Vision Subretinal Injection Cyclic Nucleotide Gate 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



This research is supported by NIH grants, EY018331, EY13729, EY11123, NS36302, EY08571, EY007758 and FFB, MVRF, RPB, Lions of Central NY.


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Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Ji-Jing Pang
    • 1
  • John Alexander
    • 2
  • Bo Lei
    • 3
    • 4
  • Wentao Deng
    • 5
  • Keqing Zhang
    • 6
  • Qiuhong Li
    • 5
  • Bo Chang
    • 7
  • William W. Hauswirth
    • 5
  1. 1.Department of OphthalmologyCollege ofMedicine, University of FloridaGainesvilleUSA
  2. 2.Department of PathologyCollege of Medicine, University of FloridaGainesvilleUSA
  3. 3.Department of Ophthalmology, Chongqing Key Laboratory of OphthalmologyThe First Affiliated Hospital of Chongqing Medical UniversityChongqingChina
  4. 4.Department of Veterinary Medicine & Surgery and Department of OphthalmologyMason Eye Institute, University of MissouriColumbiaUSA
  5. 5.Department of OphthalmologyCollege of Medicine, University of FloridaGainesvilleUSA
  6. 6.Departments of Veterinary Medicine, Surgery and OphthalmologyUniversity of Missouri-ColumbiaColumbiaUSA
  7. 7.The Jackson LaboratoryBar HarborUSA

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