دورية أكاديمية
أعرض في EDS

MYSTERY CASE: RETINAL PIGMENT EPITHELIAL DYSTROPHY IN A PATIENT WITH POLYNEUROPATHY.

التفاصيل البيبلوغرافية
العنوان: MYSTERY CASE: RETINAL PIGMENT EPITHELIAL DYSTROPHY IN A PATIENT WITH POLYNEUROPATHY.
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
الوصف
تدمد:1937-1578
DOI:10.1097/ICB.0000000000001148