Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions
N Kumaran, AT Moore, RG Weleber… - British journal of …, 2017 - bjo.bmj.com
Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are
both genetically and phenotypically heterogeneous, and characterised clinically by severe …
both genetically and phenotypically heterogeneous, and characterised clinically by severe …
Gene therapy in inherited retinal diseases: an update on current state of the art
A Amato, A Arrigo, E Aragona, MP Manitto… - Frontiers in …, 2021 - frontiersin.org
Background: Gene therapy cannot be yet considered a far perspective, but a tangible
therapeutic option in the field of retinal diseases. Although still confined in experimental …
therapeutic option in the field of retinal diseases. Although still confined in experimental …
Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies
Nonsyndromic recessive retinal dystrophies cause severe visual impairment due to the
death of photoreceptor and retinal pigment epithelium cells. These diseases until recently …
death of photoreceptor and retinal pigment epithelium cells. These diseases until recently …
Targeting photoreceptors via intravitreal delivery using novel, capsid-mutated AAV vectors
CN Kay, RC Ryals, GV Aslanidi, SH Min, Q Ruan… - PloS one, 2013 - journals.plos.org
Development of viral vectors capable of transducing photoreceptors by less invasive
methods than subretinal injection would provide a major advancement in retinal gene …
methods than subretinal injection would provide a major advancement in retinal gene …
Long-term retinal function and structure rescue using capsid mutant AAV8 vector in the rd10 mouse, a model of recessive retinitis pigmentosa
The retinal degeneration 10 (rd10) mouse is a well-characterized model of autosomal
recessive retinitis pigmentosa (RP), which carries a spontaneous mutation in the β subunit of …
recessive retinitis pigmentosa (RP), which carries a spontaneous mutation in the β subunit of …
Dual Adeno-Associated Virus Vectors Result in Efficient In Vitro and In Vivo Expression of an Oversized Gene, MYO7A
Abstract Usher syndrome 1B (USH1B) is a severe, autosomal recessive, deaf–blind disorder
caused by mutations in myosin 7A (MYO7A). Patients are born profoundly deaf and exhibit …
caused by mutations in myosin 7A (MYO7A). Patients are born profoundly deaf and exhibit …
A sign-inverted receptive field of inhibitory interneurons provides a pathway for ON-OFF interactions in the retina
A fundamental organizing plan of the retina is that visual information is divided into ON and
OFF streams that are processed in separate layers. This functional dichotomy originates in …
OFF streams that are processed in separate layers. This functional dichotomy originates in …
Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus
Usher 1 patients are born profoundly deaf and then develop retinal degeneration. Thus they
are readily identified before the onset of retinal degeneration, making gene therapy a viable …
are readily identified before the onset of retinal degeneration, making gene therapy a viable …
Advances in gene therapy for diseases of the eye
Over the last few years, huge progress has been made with regard to the understanding of
molecular mechanisms underlying the pathogenesis of neurodegenerative diseases of the …
molecular mechanisms underlying the pathogenesis of neurodegenerative diseases of the …
The human rhodopsin kinase promoter in an AAV5 vector confers rod-and cone-specific expression in the primate retina
Adeno-associated virus (AAV) has proven an effective gene delivery vehicle for the
treatment of retinal disease. Ongoing clinical trials using a serotype 2 AAV vector to express …
treatment of retinal disease. Ongoing clinical trials using a serotype 2 AAV vector to express …