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Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis

by Sundaram, Venki , Beattie, Stuart G , Barker, Susie E , Yzer, Suzanne , Thompson, Debra A , Gardner, Peter J , Feathers, Kecia L , Viswanathan, Ananth , Fitzke, Fred W , Luong, Vy A , Balaggan, Kamaljit , Smith, Alexander J , Bainbridge, James W.B , Ali, Robin R , de Ravel, Thomy J.L , Mowat, Freya M , Holder, Graham E , Stockman, Andrew , Nardini, Marko , Petersen-Jones, Simon M , Moore, Anthony T , Mehat, Manjit S , Robbie, Scott J , Casteels, Ingele , Tyler, Nick , van den Born, L. Ingeborgh , Ripamonti, Caterina , Weleber, Richard G , Georgiadis, Anastasios , Rubin, Gary , Michaelides, Michel

in Acuity / Adolescent / Animals / Blindness / Child / Children / Children & youth / cis-trans-Isomerases - genetics / Clinical significance / Complementary DNA / Dependovirus / Disease Models, Animal / Disease Progression / DNA, Complementary - administration & dosage / Dogs / Electroretinograms / Eyes & eyesight / Gene therapy / Genetic Therapy / Genetic Vectors - administration & dosage / Humans / Leber Congenital Amaurosis - genetics / Leber Congenital Amaurosis - therapy / Mutation / Photoreceptor Cells, Vertebrate / Retina / Retina - physiology / Retinal degeneration / Vision / Vision, Ocular / Visual perception / Young Adult

2015

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Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis

2015

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Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis

2015

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Journal Article

Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis

Sundaram, Venki,

Beattie, Stuart G,

Barker, Susie E,

Yzer, Suzanne,

Thompson, Debra A,

Gardner, Peter J,

Feathers, Kecia L,

Viswanathan, Ananth,

Fitzke, Fred W,

Luong, Vy A,

Balaggan, Kamaljit,

Smith, Alexander J,

Bainbridge, James W.B,

Ali, Robin R,

de Ravel, Thomy J.L,

Mowat, Freya M,

Holder, Graham E,

Stockman, Andrew,

Nardini, Marko,

Petersen-Jones, Simon M,

Moore, Anthony T,

Mehat, Manjit S,

Robbie, Scott J,

Casteels, Ingele,

Tyler, Nick,

van den Born, L. Ingeborgh,

Ripamonti, Caterina,

Weleber, Richard G,

Georgiadis, Anastasios,

Rubin, Gary,

Michaelides, Michel

2015

Overview

Long-term follow-up of 12 persons with Leber's congenital amaurosis treated with gene therapy showed that about half of them had improvements in retinal sensitivity (although the extent varied markedly among patients), followed by a decline. Leber’s congenital amaurosis is a group of inherited, early-onset, severe retinal dystrophies that cause substantial sight impairment in childhood. 1 One of the causes of this condition is mutations in the gene encoding RPE65 (retinal pigment epithelium–specific protein 65 kDa). The encoded retinoid isomerase converts all- trans retinyl esters to 11- cis retinal for the regeneration of visual pigment after exposure to light. RPE65 deficiency causes photoreceptor-cell dysfunction and impaired vision from birth. Severe dysfunction of rod photoreceptor cells, which are wholly reliant on retinal pigment epithelium–derived RPE65, causes severely impaired night vision. The function of cone photoreceptor cells, which mediate . . .

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Publisher

Massachusetts Medical Society

Subject

/ Animals

/ Child