دورية أكاديمية
MYSTERY CASE: RETINAL PIGMENT EPITHELIAL DYSTROPHY IN A PATIENT WITH POLYNEUROPATHY.
العنوان: | MYSTERY CASE: RETINAL PIGMENT EPITHELIAL DYSTROPHY IN A PATIENT WITH POLYNEUROPATHY. |
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المؤلفون: | Pimentel SLG; Department of Ophthalmology, University of São Paulo (USP), SP, Brazil., Misawa MAM; Department of Ophthalmology, University of São Paulo (USP), SP, Brazil., Conci LS; Department of Ophthalmology, University of São Paulo (USP), SP, Brazil., Takahashi BS; Department of Ophthalmology, University of São Paulo (USP), SP, Brazil., Lima LH; Department of Ophthalmology, Federal University of São Paulo (UNIFESP), SP, Brazil., Balaratnasingam C; Center for Ophthalmology and Visual Science, University of Western Australia, Perth, Australia.; Department of Ophthalmology, Sir Charles Gairdner Hospital, Western Australia, Australia ; and., Agarwal A; West Coast Retina, San Francisco, CA., Cunha de Souza E; Department of Ophthalmology, University of São Paulo (USP), SP, Brazil. |
المصدر: | Retinal cases & brief reports [Retin Cases Brief Rep] 2021 Sep 01; Vol. 15 (Suppl 1), pp. S25-S31. |
نوع المنشور: | Journal Article |
اللغة: | English |
بيانات الدورية: | Publisher: Wolters Kluwer Health Country of Publication: United States NLM ID: 101298744 Publication Model: Print Cited Medium: Internet ISSN: 1937-1578 (Electronic) Linking ISSN: 19351089 NLM ISO Abbreviation: Retin Cases Brief Rep Subsets: MEDLINE |
أسماء مطبوعة: | Original Publication: Hagerstown, MD : Wolters Kluwer Health, c2007- |
مواضيع طبية MeSH: | Polyneuropathies* , Retinal Dystrophies*, Fluorescein Angiography ; Humans ; Retinal Pigments |
References: | Montecchiani C, Pedace L, Lo Giudice T, et al. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Brain 2016;139:73–85. Ramchandren S. Charcot-Marie-Tooth disease and other genetic polyneuropathies. CONTINUUM: Lifelong Learn Neurol 2017;23:1360–1377. Züchner S, De Jonghe P, Jordanova A, et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol 2006;59:276–281. Botsford B, Vuong LN, Hedges TR III, Mendoza-Santiesteban CE. Characterization of Charcot-Marie-Tooth optic neuropathy. J Neurol 2017;264:2431–2435. Houlden H, Reilly MM, Smith S. Pupil abnormalities in 131 cases of genetically defined inherited peripheral neuropathy. Eye 2008;23:966–974. Kondo D, Shinoda K, Yamashita K, et al. A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvement. Neuromuscul Disord 2017;27:959–961. Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol 2009;8:654–667. Zerbib J, Querques G, Massamba N, et al. Reticular pattern dystrophy of the retina: a spectral-domain optical coherence tomography analysis. Am J Ophthalmol 2013;156:1228–1237. Azzedine H, Zavadakova P, Planté-Bordeneuve V, et al. PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. Hum Mol Genet 2013;22:4224–4232. Abbott JA, Guth E, Kim C, et al. The Usher syndrome type IIIB Histidyl-tRNA synthetase mutation confers temperature sensitivity. Biochemistry 2017;56:3619–3631. Khoubesserian P, van Regemorter N, Ohrn-Degueldre O, et al. Charcot-Marie-Tooth disease associated with retinal pigment dystrophy and protanopia. J Neurol 1979;222:1–10. Stanescu-Segal B, Michiels J. Heredoataxia (Spinocerebellar Degeneration), ERG alterations, temporal aspects. Ophthalmologica 1979;178:267–272. François J. Tapetoretinal degenerations in spinocerebellar degenerations (Heredoataxias). Acta Geneticae Medicae et Gemellologiae 1974;23:3–24. Bass SJ, Sherman J, Bodis-Wollner I, Nath S. Visual evoked potentials in macular disease. Invest Ophthalmol Vis Sci 1985;26:1071–1074. |
المشرفين على المادة: | 0 (Retinal Pigments) |
تواريخ الأحداث: | Date Created: 20210625 Date Completed: 20220420 Latest Revision: 20230817 |
رمز التحديث: | 20240628 |
DOI: | 10.1097/ICB.0000000000001148 |
PMID: | 34171904 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1937-1578 |
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DOI: | 10.1097/ICB.0000000000001148 |