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Outer retinal tubulations in maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy.

作者信息

Raja Muhammad S, Goldsmith C, Burton B J L

机构信息

James Paget University Hospital NHS Trust, Norfolk, UK,

出版信息

Graefes Arch Clin Exp Ophthalmol. 2013 Sep;251(9):2265-7. doi: 10.1007/s00417-012-2217-z. Epub 2013 Jan 12.

DOI:10.1007/s00417-012-2217-z
PMID:23314478
Abstract
摘要

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JCI Insight. 2023 Jul 24;8(14):e165937. doi: 10.1172/jci.insight.165937.
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Outer retinal tubulation and inner retinal pseudocysts in a patient with maternally inherited diabetes and deafness evaluated with optical coherence tomography angiogram.光学相干断层扫描血管造影评估母系遗传性糖尿病和耳聋患者的外视网膜小管化和内视网膜假囊肿。
Indian J Ophthalmol. 2020 Jan;68(1):250-253. doi: 10.4103/ijo.IJO_577_19.
3
Correlation of Optical Coherence Tomography and Autofluorescence in the Outer Retina and Choroid of Patients With Choroideremia.

本文引用的文献

1
Diagnosis of maternally inherited diabetes and deafness (mitochondrial A3243G mutation) based on funduscopic appearance in an asymptomatic patient.基于眼底表现对无症状患者进行母系遗传糖尿病和耳聋（线粒体A3243G突变）的诊断。
Br J Ophthalmol. 2012 Apr;96(4):604. doi: 10.1136/bjophthalmol-2011-300004. Epub 2011 Mar 28.
2
Outer retinal tubulation: a novel optical coherence tomography finding.外层视网膜管状化：一种新型光学相干断层扫描发现。
Arch Ophthalmol. 2009 Dec;127(12):1596-602. doi: 10.1001/archophthalmol.2009.326.
3
Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Distinct retinal and associated features, disease variability, and characterization of asymptomatic family members.
视网膜色素变性患者视网膜外层和脉络膜光学相干断层扫描与自发荧光的相关性
Invest Ophthalmol Vis Sci. 2016 Jul 1;57(8):3674-84. doi: 10.1167/iovs.15-18364.
与A3243G线粒体DNA突变相关的黄斑营养不良。独特的视网膜及相关特征、疾病变异性以及无症状家庭成员的特征描述。
Arch Ophthalmol. 2008 Mar;126(3):320-8. doi: 10.1001/archopht.126.3.320.
4
Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation.与3243A>G线粒体点突变相关的母系遗传糖尿病和耳聋（MIDD）的临床特征、诊断及管理
Diabet Med. 2008 Apr;25(4):383-99. doi: 10.1111/j.1464-5491.2008.02359.x. Epub 2008 Feb 18.