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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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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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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 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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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 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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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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Familial Renal-Retinal Dystrophy
Archives of Pediatrics & Adolescent Medicine, 1973Two 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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A Practical Approach to Retinal Dystrophies
Genomic approaches to developing new diagnostic and therapeutic strategies in retinal dystrophies are among the most advanced applications of genetics (Tsang and Gouras 1996). The notion that "nothing can be done" for patients with retinal dystrophies is no longer true.Ahmet, Hondur +6 more
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