Results 191 to 200 of about 15,997 (234)
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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 +4 more
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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 +4 more
openaire +1 more source
Anti-VEGF and Retinal Dystrophies
Current Drug Targets, 2020The therapeutic approach based on anti-vascular endothelial growth factor (anti-VEGF) molecules can be used to treat two important complications of retinal dystrophies: choroidal neovascularization and macular edema. The macular involvement in retinal dystrophies can lead to further visual deterioration in patients at a young age and already affected
Battaglia Parodi Maurizio +2 more
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Acta Ophthalmologica, 2009
Abstract Purpose Review of typical clinical pictures and gene defects associated with most prevalent retinal dystrophies such as retinitis pigmentosa, Stargardt's macular dystrophy, Best's macular dystrophy, cone dystrophy, congenital stationary night blindness, pattern dystrophy and some rarer types of dystrophies.
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Abstract Purpose Review of typical clinical pictures and gene defects associated with most prevalent retinal dystrophies such as retinitis pigmentosa, Stargardt's macular dystrophy, Best's macular dystrophy, cone dystrophy, congenital stationary night blindness, pattern dystrophy and some rarer types of dystrophies.
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RETINAL DYSTROPHY COMBINED WITH ALOPECIA
Acta Ophthalmologica, 1975Retinitis pigmentosa or pigmentary retinal dystrophy is the most important group among the tapeto‐retinal dystrophies. The degenerative process found in the retina has, in many cases, a corresponding counterpart in other parts of the body, most commonly in the CNS.
A, Björk, P, Jahnberg
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Retinal Dystrophy in Jeune's Syndrome
Archives of Ophthalmology, 1987Jeune'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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Retinal dystrophies and genetic counselling
Acta Ophthalmologica Scandinavica, 1996ABSTRACT Increased patient demand is leading to a corresponding increase in the need for informed genetic counselling in ophthalmic practice which requires refined diagnosis, and a detailed knowledge of molecular genetics. Accurate assessment of risk and visual potential in prospective children is becoming available for a range of retinal dystrophies ...
M, Jay, K, Evans
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Macular cysts in retinal dystrophy
Current Opinion in Ophthalmology, 2011To describe the entity of macular cysts in retinal dystrophy, differentiate it from cystoid macular edema (CME), and review the role of carbonic anhydrase inhibitors in management.Macular cysts in retinal dystrophy are seen in retinopathies caused by mutations in the NR2E3 gene, juvenile X-linked retinoschisis (XLRS), and some other retinal dystrophies.
Anuradha, Ganesh +4 more
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Retinal dystrophy and macular coloboma
Documenta Ophthalmologica, 1988Seven cases of retinal dystrophy associated with bilateral macular colobomata are presented. Two separate entities were found. The first is a congenital onset pigmentary retinopathy similar in electrophysiologic findings and symptoms to typical Leber's congenital amaurosis; the second appears to be a form of pregressive cone-rod dystrophy with ...
J R, Heckenlively +2 more
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Hereditary retinal dystrophies and choroidal neovascularization
Graefe's Archive for Clinical and Experimental Ophthalmology, 2000Choroidal neovascularization infrequently occurs in patients affected by hereditary retinal dystrophies.We studied eight patients suffering from different hereditary retinal dystrophies (Best's disease, reticular dystrophy, butterfly-shaped dystrophy, gyrate atrophy, and retinitis pigmentosa) who developed choroidal neovascularization.
F. Marano +3 more
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Retinal capillaritis in a CRB1-associated retinal dystrophy
Ophthalmic Genetics, 2017To report a case of CRB1-associated retinal dystrophy characterized by vitritis, retinal capillaritis, and cystoid macular edema (CME).A case report.An 8-year-old boy was diagnosed with intermediate uveitis and treated with corticosteroids. He was subsequently diagnosed with retinal dystrophy and found to have two CRB1 mutations.Retinal capillaritis ...
Murro, Vittoria +6 more
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