What is retinal dystrophy

    • [DOCX File]University of Toledo

      https://info.5y1.org/what-is-retinal-dystrophy_1_81c5fc.html

      Dear Dr. Alexei Fedorov, I would like to share with you basic information on the family of autosomal recessive retinal dystrophy as depicted below.. We have carried out whole exome sequencing on Illumina Hiseq platform using Agilent SureSelect Human All Exon V5 Kit in the affected girl (SG-5), her affected sister (SG-6) and healthy mother (SG-4).

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    • [DOC File]Stephen F. Austin State University

      https://info.5y1.org/what-is-retinal-dystrophy_1_aae8e2.html

      Cone-rod dystrophy (CRD) is a progressive and adventitious retinal degenerative disease that causes deterioration of the cones and rods in the retina and frequently leads to blindness. Cone-rod dystrophy is characterized by all of the following elements: skin pigmentation abnormality; involuntary, rhythmic movements of the eyes (nystagmus ...

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    • [DOC File]Table S2 – Detailed list of 51 neuromuscular disorders (15 ...

      https://info.5y1.org/what-is-retinal-dystrophy_1_77e25e.html

      learning disabilities, retinal dystrophy, and short stature 3 #300523 Allan-Herndon-Dudley Xq13.2 SLC16A2 / MCT8 *300095 Severe hypotonia, joint contractures, spastic paraplegia, severe muscular atrophy, nistagmus, high serum T3 and FT3 309640 Davis spastic tetraparesis, slowly progressive 4 #301835 Arts Xq22.3

      retinal pigment dystrophy

    • [DOCX File]GeneDx

      https://info.5y1.org/what-is-retinal-dystrophy_1_9ed4cf.html

      The retinal dystrophies are a clinically and genetically heterogeneous group of eye disorders characterized by the degeneration of photoreceptors and retinal pigment epithelium cells.1,2 In some cases, retinal dystrophy is caused by an ophthalmic disorder with clinical features limited to eye findings, such as Stargardt macular degeneration ...

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    • [DOC File]§4 - Veterans Affairs

      https://info.5y1.org/what-is-retinal-dystrophy_1_a7b5fc.html

      6042 Retinal dystrophy (including retinitis pigmentosa, wet or dry macular degeneration, early-onset macular degeneration, rod and/or cone dystrophy) 6046 Post-chiasmal disorders. Impairment of Central Visual Acuity. 6061 Anatomical loss of both eyes1 100. 6062 No more than light perception in both eyes1 100. 6063 Anatomical loss of one eye: 1

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