Emerging therapies for inherited retinal degeneration

被引：174

作者：

Scholl, Hendrik P. N. ^{[1
,2
]}

Strauss, Rupert W. ^{[2
,3
,4
,5
,6
]}

Singh, Mandeep S. ^{[2
]}

Dalkara, Deniz ^{[7
,8
,9
]}

Roska, Botond ^{[1
,10
]}

Picaud, Serge ^{[7
,8
,9
]}

Sahel, Jose-Alain ^{[7
,8
,9
,11
,12
,13
]}

机构：

[1] Univ Basel, Dept Ophthalmol, CH-4056 Basel, Switzerland

[2] Johns Hopkins Univ, Wilmer Eye Inst, Baltimore, MD 21287 USA

[3] Moorfields Eye Hosp, London EC1V 2PD, England

[4] UCL, UCL Inst Ophthalmol, London EC1V 9EL, England

[5] Med Univ Graz, Dept Ophthalmol, Graz, Austria

[6] Johannes Kepler Univ Linz, Dept Ophthalmol, A-4021 Linz, Austria

[7] INSERM, UMR S 968, F-75012 Paris, France

[8] UPMC Univ Paris 06, Sorbonne Univ, Inst Vis, Paris, France

[9] CNRS, UMR 7210, F-75012 Paris, France

[10] Friedrich Miescher Inst Biomed Res, Neural Circuit Labs, CH-4058 Basel, Switzerland

[11] Fdn Ophtalmol Adolphe Rothschild, F-75019 Paris, France

[12] INSERM, Ctr Hosp Natl Ophtalmol Quinze Vingt, Ctr Invest Clin 1423, F-75012 Paris, France

[13] Univ Pittsburgh, Sch Med, Dept Ophthalmol, Pittsburgh, PA 15213 USA

来源：

SCIENCE TRANSLATIONAL MEDICINE | 2016年 / 8卷 / 368期

基金：

欧洲研究理事会; 奥地利科学基金会;

关键词：

LEBER CONGENITAL AMAUROSIS; RESTORES VISUAL RESPONSES; GENE-THERAPY; PHOTORECEPTORS RESTORES; MICROELECTRODE ARRAYS; PIGMENT EPITHELIUM; MOUSE MODEL; VISION; TRANSPLANTATION; RPE65;

D O I：

10.1126/scitranslmed.aaf2838

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Inherited retinal degenerative diseases, a genetically and phenotypically heterogeneous group of disorders, affect the function of photoreceptor cells and are among the leading causes of blindness. Recent advances in molecular genetics and cell biology are elucidating the pathophysiological mechanisms underlying these disorders and are helping to identify new therapeutic approaches, such as gene therapy, stem cell therapy, and optogenetics. Several of these approaches have entered the clinical phase of development. Artificial replacement of dying photoreceptor cells using retinal prostheses has received regulatory approval. Precise retinal imaging and testing of visual function are facilitating more efficient clinical trial design. In individual patients, disease stage will determine whether the therapeutic strategy should comprise photoreceptor cell rescue to delay or arrest vision loss or retinal replacement for vision restoration.

引用

页数：10

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