Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy.

@article{Testa2011EvaluationOI,
  title={Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy.},
  author={Francesco Testa and Enrico Maria Surace and Settimio Rossi and Elena Marrocco and Annagiusi Gargiulo and Valentina Di Iorio and Carmela Ziviello and Anna Nesti and Simona Fecarotta and Maria Laura Bacci and Massimo Giunti and Michele Della Corte and Sandro Banfi and Alberto Auricchio and Francesca Simonelli},
  journal={Investigative ophthalmology & visual science},
  year={2011},
  volume={52 8},
  pages={5618-24}
}
PURPOSE To evaluate the suitability of gene delivery-based approaches as potential treatment of Leber congenital amaurosis 4 (LCA4) due to AIPL1 mutations. METHODS Genomic DNA from patients was analyzed using a microarray chip and direct sequencing. A detailed clinical evaluation including fundus autofluorescence (FAF) and optical coherence tomography (OCT) was performed in patients with AIPL1 mutations. Aipl1 null mice and porcine eyes were subretinally injected with adeno-associated viral… CONTINUE READING