Results 151 to 160 of about 9,112 (206)

High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population. [PDF]

Orphanet J Rare Dis
Lin YW, Huang YS, Lin CY, Lin CW, Wu CC, Yang CH, Yang CM, Chen PL, Chen TC.   +8 more
europepmc   +1 more source

Genetics of the Retinal Dystrophies

, 2018
Merepa, S, Broadgate, S, Sekaran, S, Halford, S   +3 more
openaire   +1 more source

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

Invest Ophthalmol Vis Sci
europepmc   +1 more source

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
europepmc   +1 more source

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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
openaire   +2 more sources

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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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
openaire   +2 more sources

Retinal Dystrophy in Jeune's Syndrome

Archives of Ophthalmology, 1987
Jeune's syndrome is an autosomal-recessive condition characterized by multiple organ abnormalities, the most severe of which affect the skeleton, kidneys, and eyes. Severe respiratory insufficiency frequently results in death in infancy, but several patients have been reported to survive to adulthood.
D J, Wilson, R G, Weleber, R K, Beals
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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
openaire   +2 more sources