Results 181 to 190 of about 9,124 (223)

Erratum in: Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium. [PDF]

Invest Ophthalmol Vis Sci
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CRISPRa-mediated activation of genes associated with inherited retinal dystrophies in acutely isolated human cells for diagnostic purposes

Weber VJ, Reschigna A, Gerhardt M, Hinrichsmeyer KS, Otify DY, Heigl T, Blaser F, Meneau I, Biel M, Michalakis S, Becirovic E.   +10 more
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Voretigene neparvovec for inherited retinal dystrophy.

Australian prescriber
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Genetic analysis of inherited retinal dystrophies

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Inherited retinal dystrophies in a Kuwaiti tribe

Ophthalmic Genetics, 2022
To evaluate the clinical and genetic spectrum of inherited retinal diseases (IRDs) in a Kuwaiti tribe.Forty four patients with IRDs from 28 nuclear families from the tribe, were evaluated for presenting symptoms, visual acuity, fundus examination, OCT, microperimetry, full-field (ff), and multifocal electroretinography (mERG) and genotyping.Seventeen ...
M G, Pandova, T, Abduljalil, A E, Elshafey, S M A, Abdelmoaty, H I, Albastawisy, L A, Bastaki, H, Alsaleh, I, Kozak, J I, AlMerjan   +8 more
openaire   +2 more sources

Inherited Retinal Dystrophies

2019
Evaluation begins with a careful history of systemic and visual symptoms. Important parts of the history include age of onset, laterality, nyctalopia (night blindness), hemeralopia (day blindness), and visual distortion. A family history is critical and can help narrow the differential diagnosis and later guide genetic testing.
Gregory Stein, Tarun Sharma, Thiago Cabral, Stephen Tsang, Wendy Chung   +4 more
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Generalized Inherited Retinal Dystrophies

2010
Inherited retinal dystrophies are a major cause of visual deficit worldwide. This chapter focuses on generalized forms that diffusely affect the outer retinal function, primarily the photoreceptors and the adjacent structures. Diagnostic entities in this broad category range from the relatively common retinitis pigmentosa, occurring in up to 1 in 2,500
Shahrokh C. Khani, Airaj Fasiuddin
openaire   +1 more source

Retinal gene therapy in RPE-65 gene mediated inherited retinal dystrophy

Eye, 2022
Voretigene neparvovec (VN) is a gene therapeutic agent for treatment of retinal dystrophies caused by bi-allelic RPE65 mutations. We illustrate, both the benefits and pitfalls associated with ocular gene therapy in the same patient.Two eyes of one patient with bi-allelic RPE65 mutations have been treated with VN.
Assad Jalil, Tsveta Ivanova, George Moussa, Neil R. A. Parry, Graeme C. M. Black   +4 more
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Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies

2015
Inherited retinal dystrophies (IRDs) are an extremely heterogeneous group of genetic diseases for which currently no effective treatment strategies exist. Over the last decade, significant progress has been made utilizing gene augmentation therapy for a few genetic subtypes of IRD, although several technical challenges so far prevent a broad clinical ...
Gerard, X., Garanto Iglesias, A., Rozet, J.M., Collin, R.W.J.   +3 more
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