[HTML][HTML] 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
AI den Hollander, A Black, J Bennett, FPM Cremers
The Journal of clinical investigation, 2010Am 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
have been considered to be incurable. Molecular genetic studies in the last two decades
have revealed the underlying molecular causes in approximately two-thirds of patients. The
mammalian eye has been at the forefront of therapeutic trials based on gene augmentation
in humans with an early-onset nonsyndromic recessive retinal dystrophy due to mutations in …
Nonsyndromic recessive retinal dystrophies cause severe visual impairment due to the death of photoreceptor and retinal pigment epithelium cells. These diseases until recently have been considered to be incurable. Molecular genetic studies in the last two decades have revealed the underlying molecular causes in approximately two-thirds of patients. The mammalian eye has been at the forefront of therapeutic trials based on gene augmentation in humans with an early-onset nonsyndromic recessive retinal dystrophy due to mutations in the retinal pigment epithelium–specific protein 65kDa (RPE65) gene. Tremendous challenges still lie ahead to extrapolate these studies to other retinal disease–causing genes, as human gene augmentation studies require testing in animal models for each individual gene and sufficiently large patient cohorts for clinical trials remain to be identified through cost-effective mutation screening protocols.
The Journal of Clinical Investigation