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1. 網膜色素変性症：臨床症状および診断retinitis pigmentosa clinical presentation and diagnosis [show details]
…macrophage-like cells that contain melanin. Other terms for RP include "rod-cone dystrophy," "tapetoretinal degeneration," and "pigmentary retinopathy." A family history of RP is present in about 40 to 50 percent …
2. 網膜色素変性症：治療retinitis pigmentosa treatment [show details]
…diagnosis of retinitis pigmentosa are discussed separately. Vitamin and nutritional supplementation therapy is beneficial only for a limited group of patients with some forms of retinitis pigmentosa (RP). …
3. ネフロン癆の臨床症状、診断、および治療clinical manifestations diagnosis and treatment of nephronophthisis [show details]
…impairment due to retinitis pigmentosa (also referred to as tapetoretinal degeneration ) is seen in patients with Senior-Loken syndrome and Leber congenital amaurosis. Retinitis pigmentosa is observed in …
4. ネフロン癆の遺伝学および病因genetics and pathogenesis of nephronophthisis [show details]
…adolescent NPHP, respectively . Mutations in NPHP5 are associated with retinitis pigmentosa (also referred to as tapetoretinal degeneration) and the Senior-Loken syndrome. Mutations in NPHP6 and NPHP8 are …
5. 神経有棘赤血球症neuroacanthocytosis [show details]
…defects are common. Funduscopic examination reveals pigmentary degeneration of the retina (retinitis pigmentosa). Dysarthria is common. The sensory motor neuropathy manifests with weakness and distal muscle …