Results 181 to 190 of about 15,997 (234)

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

Invest Ophthalmol Vis Sci
Heutinck PAT, van den Born LI, Vermeer M, Iglesias Gonzales AI, Hoyng CB, Pott JWR, Kroes HY, van Schooneveld MJ, Boon CJF, van Genderen MM, Plomp AS, de Jong-Hesse Y, van Egmond-Ebbeling MB, Hoefsloot LH, A Bergen A, Klaver CCW, Meester-Smoor MA, Thiadens AAHJ, Verhoeven VJM.   +18 more
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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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OUTER RETINAL TUBULATION IN RETINAL DYSTROPHIES

Retina, 2017
To evaluate the occurrence and characteristics of outer retinal tubulation (ORT) in an Indian population with retinal dystrophies.In this retrospective study, 309 eyes of 157 patients with retinal dystrophies including retinitis pigmentosa (RP, 183 eyes), Stargardt disease (STGD, 93 eyes) and Best disease (33 eyes) were reviewed.
Imoro Z, Braimah, Sunila, Dumpala, Jay, Chhablani   +2 more
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Inner Retinal Function in Hereditary Retinal Dystrophies

Cells Tissues Organs, 1998
Hereditary retinal dystrophies are most often disorders of photoreceptors and/or the retinal pigment epithelium. Structures secondary to the photoreceptor layer such as bipolar, horizontal, amacrine and ganglion cells are secondarily involved. In later stages of the disease a mild to moderate loss of inner retina occurs, but the second and third ...
K, Ruether, U, Kellner
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Pericentral Retinal Dystrophy

Acta Ophthalmologica, 1987
Abstract. A diagnosis of pericentral retinal dystrophy was made in 28 patients from four families, all living in North Norway. Patients from two and three generations were examined, establishing the relatively benign but progressive course of the disease. The advanced stage of pericentral retinal dystrophy could not be differentiated from the advanced
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Retinitis Pigmentosa and Other Dystrophies

2010
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations characterized by progressive degeneration of rod and cone cells that affects predominantly peripheral visual fields. Macular edema may cause additional central visual acuity decrease. Cystoid macular edema (CME) is one of the few treatable causes of visual loss in RP.
José, Sahel, Sébastien, Bonnel, Sarah, Mrejen, Michel, Paques   +3 more
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Hereditary Retinal Dystrophy

2016
As our understanding of the genetic basis for inherited retinal disease has expanded, gene therapy has advanced into clinical development. When the gene mutations associated with inherited retinal dystrophies were identified, it became possible to create animal models in which individual gene were altered to match the human mutations.
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Familial Renal-Retinal Dystrophy

Archives of Pediatrics & Adolescent Medicine, 1973
Two sisters have a rare genetic disorder characterized by impaired vision and progressive renal failure. The eye lesion affects the retina. The kidney component both clinically and histologically closely resembles nephronophthisis-medullary cystic disease. Examples of other families with this entity have been found in the literature.
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