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List of works by Francesco Testa

A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene

article

A novel mutation in the VMD2 gene in an Italian family with Best maculopathy

article

A pilot study for development of a novel tool for clinical decision making to identify fallers among ophthalmic patients.

scientific article published on 4 September 2015

AAV-mediated photoreceptor transduction of the pig cone-enriched retina

scientific article

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

scientific article

An Atypical Form of Bietti Crystalline Dystrophy ⬇️

scientific article published on March 8, 2011

Analysis of the ABCA4 genomic locus in Stargardt disease

scientific article

Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family

scientific article published on March 2004

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity

scientific article

Carbonic anhydrase inhibitors in patients with X-linked retinoschisis: effects on macular morphology and function

scientific article published on 31 May 2019

Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.

scientific article

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients

scientific article published on September 2007

Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene

scientific article published on 01 September 2006

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase

article

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

scientific article published on 29 July 2011

Evaluation of Ocular Gene Therapy in an Italian Patient Affected by Congenital Leber Amaurosis Type 2 Treated in Both Eyes.

scientific article

Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration

scientific article

Genetics of diabetic retinopathy.

scientific article published in March 2001

Genotype-phenotype correlation in Italian families with Stargardt disease

scientific article published on 7 May 2005

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

scientific article

Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.

scientific article published on August 2003

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains

scientific article (publication date: August 2001)

Interplay between Intravitreal RvD1 and Local Endogenous Sirtuin-1 in the Protection from Endotoxin-Induced Uveitis in Rats

scientific article published on 9 June 2015

Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene.

scientific article

Macular abnormalities in Italian patients with retinitis pigmentosa. ⬇️

scientific article

Macular function and morphologic features in juvenile stargardt disease: longitudinal study.

scientific article

Molecular and clinical characterization of albinism in a large cohort of Italian patients

scientific article

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

scientific article (publication date: September 1999)

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

scientific article

Ocriplasmin use in a selected case with preserved visual acuity

scientific article published on 29 October 2015

Photorefractive keratectomy on purely refractive accommodative esotropia.

scientific article

Polymorphism p.402Y>H in the complement factor H protein is a risk factor for age related macular degeneration in an Italian population.

scientific article published on 14 June 2006

Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome.

scientific article published on 13 July 2017

Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients ⬇️

scientific article published on July 19, 2012

Safety and efficacy of gene transfer for Leber's congenital amaurosis

scientific article

Serum oxidative and antioxidant parameters in a group of Italian patients with age-related maculopathy

article

Subretinal Fibrosis in Stargardt's Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation. ⬇️

scientific article published on September 2012

The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy

scientific article published on 28 January 2013

The role of optical coherence tomography in an atypical case of oculocutaneous albinism: a case report.

scientific article published on January 2012

Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2

scientific article published on 6 March 2013

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype

scientific article

Vitreous substitutes: the present and the future

scientific article

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