title: Evaluation of Ocular Gene Therapy in an Italian Patient Affected by Congenital Leber Amaurosis Type 2 Treated in Both Eyes.
abstract: Gene therapy clinical trials with gene augmentation therapy for Leber Congenital Amaurosis have shown partial reversal of retinal dysfunction. Most studies described the effect of treatment in a single eye and limited evidence is reported in literature about patients treated in both eyes. In this chapter, we present the findings of a young patient treated in both eyes. Efficacy of the treatment was assessed with Best Corrected Visual Acuity, Goldman Visual Field testing, Esterman computerized binocular visual field and Microperimetric testing. Post-treatment results showed improvement of visual function in both eyes, in particular, a strong amelioration was observed after the first injection, by using conventional monocular tests. Moreover, the treatment in the second eye resulted in a further improvement of binocular visual functionality, as easily detected by computerized binocular visual field. In conclusion, our data suggest that gene therapy can inhibit retinal degeneration and can be safe and effective in restoring visual functionality in young subjects treated in both eyes. Finally, new outcome measurements, in particular binocular computerized visual field parameters, can therefore be useful to quantify overall visual gain in patients undergoing gene therapy in both eyes.
authors.affiliation: Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Second University of Naples, Naples, Italy. francesco.testa@unina2.it.
authors.forename: Francesco
authors.initials: F
authors.lastname: Testa
authors.affiliation: Scheie Eye Institute, F.M. Kirby Center for Molecular Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA. amaguire@mail.med.upenn.edu.
authors.forename: Albert M
authors.initials: AM
authors.lastname: Maguire
authors.affiliation: Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Second University of Naples, Naples, Italy. settimio.rossi@unina2.it.
authors.forename: Settimio
authors.initials: S
authors.lastname: Rossi
authors.affiliation: Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. marshallk1@email.chop.edu.
authors.forename: Kathleen
authors.initials: K
authors.lastname: Marshall
authors.affiliation: Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy. auricchio@tigem.it.
authors.forename: Alberto
authors.initials: A
authors.lastname: Auricchio
authors.affiliation: Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Second University of Naples, Naples, Italy. paolo.melillo@unina2.it.
authors.forename: Paolo
authors.initials: P
authors.lastname: Melillo
authors.affiliation: Scheie Eye Institute, F.M. Kirby Center for Molecular Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA. jebennet@mail.med.upenn.edu.
authors.forename: Jean
authors.initials: J
authors.lastname: Bennett
authors.affiliation: Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Second University of Naples, Naples, Italy. francesca.simonelli@unina2.it.|, Via Pansini, 5, 80131, Napoli, Italy. francesca.simonelli@unina2.it.
authors.forename: Francesca
authors.initials: F
authors.lastname: Simonelli
mesh_terms: D002648:Child; D000229:Dependovirus / Q000235:genetics; D005123:Eye / Q000378:metabolism*; D005500:Follow-Up Studies; D015316:Genetic Therapy / Q000379:methods*; D005822:Genetic Vectors / Q000008:administration & dosage / Q000235:genetics; D006801:Humans; D007267:Injections; D007558:Italy; D057130:Leber Congenital Amaurosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*; D016896:Treatment Outcome; D015348:Vision, Binocular / Q000502:physiology; D014785:Vision, Ocular / Q000502:physiology; D014792:Visual Acuity / Q000502:physiology; D014794:Visual Fields / Q000502:physiology; D019745:cis-trans-Isomerases / Q000235:genetics / Q000378:metabolism*; D000099178:Retinoid Isomerohydrolase
chemical_list: D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase
keywords: Binocular computerized visual field; Gene therapy; Leber’s Congenital Amaurosis; Microperimetry; Optical coherence tomography