Results 161 to 170 of about 9,112 (206)
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Retinal Dystrophy in the Cardiofaciocutaneous Syndrome
Journal of Pediatric Ophthalmology & Strabismus, 1993The cardiofaciocutaneous syndrome was first described by Reynolds and co-workers in 1986. x Patients have a characteristic facial appearance, mental retardation, abnormal skin and hair, and congenital heart disease. Typical facial characteristics consist of a high forehead with bitemporal narrowing, downslanting of the palpebral fissures, a depressed ...
Dunya, Ibrahim +2 more
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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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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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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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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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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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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 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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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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A Practical Approach to Retinal Dystrophies
2018Genomic approaches to developing new diagnostic and therapeutic strategies in retinal dystrophies are among the most advanced applications of genetics (Tsang SH, Gouras P (1996) Molecular physiology and pathology of the retina. In: Duane TD, Tasman W, Jaeger AE (eds) Duane's clinical opthalmology. Lippincott-Raven, Philadelphia).
Irena, Tsui +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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