Early and late stage gene therapy interventions for inherited retinal degenerations

C Botto, M Rucli, MD Tekinsoy, J Pulman… - Progress in Retinal and …, 2022 - Elsevier
Inherited and age-related retinal degeneration is the hallmark of a large group of
heterogeneous diseases and is the main cause of untreatable blindness today. Genetic …

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 …

Leber congenital amaurosis: genes, proteins and disease mechanisms

AI Den Hollander, R Roepman, RK Koenekoop… - Progress in retinal and …, 2008 - Elsevier
Leber congenital amaurosis (LCA) is the most severe retinal dystrophy causing blindness or
severe visual impairment before the age of 1 year. Linkage analysis, homozygosity mapping …

Cellular mechanisms of hereditary photoreceptor degeneration–Focus on cGMP

M Power, S Das, K Schütze, V Marigo, P Ekström… - Progress in Retinal and …, 2020 - Elsevier
The cellular mechanisms underlying hereditary photoreceptor degeneration are still poorly
understood, a problem that is exacerbated by the enormous genetic heterogeneity of this …

Vector platforms for gene therapy of inherited retinopathies

I Trapani, A Puppo, A Auricchio - Progress in retinal and eye research, 2014 - Elsevier
Inherited retinopathies (IR) are common untreatable blinding conditions. Most of them are
inherited as monogenic disorders, due to mutations in genes expressed in retinal …

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

AI den Hollander, A Black, J Bennett… - The Journal of …, 2010 - Am Soc Clin Investig
Nonsyndromic recessive retinal dystrophies cause severe visual impairment due to the
death of photoreceptor and retinal pigment epithelium cells. These diseases until recently …

The pros and cons of vertebrate animal models for functional and therapeutic research on inherited retinal dystrophies

RWN Slijkerman, F Song, GDN Astuti… - Progress in retinal and …, 2015 - Elsevier
Over the last decade, huge progress has been made in the understanding of the molecular
mechanisms underlying inherited retinal dystrophy (IRD), as well as in the development and …

The chick eye in vision research: An excellent model for the study of ocular disease

CE Wisely, JA Sayed, H Tamez, C Zelinka… - Progress in retinal and …, 2017 - Elsevier
The domestic chicken, Gallus gallus, serves as an excellent model for the study of a wide
range of ocular diseases and conditions. The purpose of this manuscript is to outline some …

Rediscovering the chick embryo as a model to study retinal development

MN Vergara, MV Canto-Soler - Neural development, 2012 - Springer
The embryonic chick occupies a privileged place among animal models used in
developmental studies. Its rapid development and accessibility for visualization and …

Clinical applications of retinal gene therapy

DM Lipinski, M Thake, RE MacLaren - Progress in retinal and eye research, 2013 - Elsevier
Many currently incurable forms of blindness affecting the retina have a genetic etiology and
several others, such as those resulting from retinal vascular disturbances, respond to …