母系遺傳性糖尿病伴耳聾相關黃斑營養不良一例_Chinese Journal of Ocular Fundus Diseases

Authors：

胡艷濱 ¹ ,  蘇九妹 ¹ , 李文君 ² , 高軍 ¹ , 安喜艷 ¹

1. ;
2. ;

Corresponding?author：

蘇九妹, Email: sujiumei65@163.com

Keywords：

線粒體疾病; 病例報告; 母系遺傳性糖尿病伴耳聾; 黃斑營養不良

DOI：

10.3760/cma.j.cn511434-20200715-00339

Video：

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Citation： 胡艷濱, 蘇九妹, 李文君, 高軍, 安喜艷. 母系遺傳性糖尿病伴耳聾相關黃斑營養不良一例. Chinese Journal of Ocular Fundus Diseases, 2021, 37(4): 311-312. doi: 10.3760/cma.j.cn511434-20200715-00339 Copy

1.	Bergamin CS, Rolim LC, Dib SA, et al. Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10[J]. Arq Bras Endocrinol Metabol, 2008, 52(8): 1345-1349. DOI: 10.1590/s0004-27302008000800023.
2.	Ovens CA, Ahmad K, Fraser CL. Fundus autofluorescence in maternally inherited diabetes and deafness: the gold standard for monitoring maculopathy?[J]. Neuroophthalmology, 2019, 44(3): 168-173. DOI: 10.1080/01658107.2019.1653935.
3.	Murphy R, Turnbull DM, Walker M, et al. Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation[J]. Diabet Med, 2008, 25(4): 383-399. DOI: 10.1111/j.1464-5491.2008.02359.x.
4.	中華醫學會糖尿病學分會. 線粒體基因突變糖尿病的現狀及篩查與診治的建議[J]. 中華醫學雜志, 2005, 85(28): 1951-1956. DOI: 10.3760/j:issn:0376-2491.2005.28.003.Diabetes Branch of Chinese Medical Association. Current status of mitochondrial gene mutation diabetes and recommendations for screening, diagnosis and treatment[J]. National Medical Journal of China, 2005, 85(28): 1951-1956. DOI: 10.3760/j:issn:0376-2491.2005.28.003.
5.	Massin P, Virally-Monod M, Vialettes B, et al. Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness. GEDIAM group[J]. Ophthalmology, 1999, 106(9): 1821-1827. DOI: 10.1016/S0161-6420(99)90356-1.
6.	Rath PP, Jenkins S, Michaelides M, et al. Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence[J]. Br J Ophthalmol, 2008, 92(5): 623-629. DOI: 10.1136/bjo.2007.131177.
7.	de Laat P, Smeitink JAM, Janssen MCH, et al. Mitochondrial retinal dystrophy associated with the m. 3243A>G mutation[J]. Ophthalmology, 2013, 120(12): 2684-2696. DOI: 10.1016/j.ophtha.2013.05.013.
8.	李冰, 陳有信. 外層視網膜管狀結構的研究進展[J]. 中華眼科雜志, 2020, 56(2): 149-154. DOI: 10.3760/cma.j.issn.0412-4081.2020.02.014.Li B, Chen YX. Research progress of outer retinal tabulation[J]. Chin J Ophthalmol, 2020, 56(2): 149-154. DOI: 10.3760/cma.j.issn.0412-4081.2020.02.014.
9.	Massin P, Dubois-Laforgue D, Measet T, et al. Retinal and renal complications in patients with a mutation of mitochondrial DNA at position 3, 243 (maternally inherited diabetes and deafness). A case-control study[J]. Diabetologia, 2008, 51(9): 1664-1670. DOI: 10.1007/s00125-008-1073-1.

1. Bergamin CS, Rolim LC, Dib SA, et al. Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10[J]. Arq Bras Endocrinol Metabol, 2008, 52(8): 1345-1349. DOI: 10.1590/s0004-27302008000800023.
2. Ovens CA, Ahmad K, Fraser CL. Fundus autofluorescence in maternally inherited diabetes and deafness: the gold standard for monitoring maculopathy?[J]. Neuroophthalmology, 2019, 44(3): 168-173. DOI: 10.1080/01658107.2019.1653935.
3. Murphy R, Turnbull DM, Walker M, et al. Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation[J]. Diabet Med, 2008, 25(4): 383-399. DOI: 10.1111/j.1464-5491.2008.02359.x.
4. 中華醫學會糖尿病學分會. 線粒體基因突變糖尿病的現狀及篩查與診治的建議[J]. 中華醫學雜志, 2005, 85(28): 1951-1956. DOI: 10.3760/j:issn:0376-2491.2005.28.003.Diabetes Branch of Chinese Medical Association. Current status of mitochondrial gene mutation diabetes and recommendations for screening, diagnosis and treatment[J]. National Medical Journal of China, 2005, 85(28): 1951-1956. DOI: 10.3760/j:issn:0376-2491.2005.28.003.
5. Massin P, Virally-Monod M, Vialettes B, et al. Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness. GEDIAM group[J]. Ophthalmology, 1999, 106(9): 1821-1827. DOI: 10.1016/S0161-6420(99)90356-1.
6. Rath PP, Jenkins S, Michaelides M, et al. Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence[J]. Br J Ophthalmol, 2008, 92(5): 623-629. DOI: 10.1136/bjo.2007.131177.
7. de Laat P, Smeitink JAM, Janssen MCH, et al. Mitochondrial retinal dystrophy associated with the m. 3243A>G mutation[J]. Ophthalmology, 2013, 120(12): 2684-2696. DOI: 10.1016/j.ophtha.2013.05.013.
8. 李冰, 陳有信. 外層視網膜管狀結構的研究進展[J]. 中華眼科雜志, 2020, 56(2): 149-154. DOI: 10.3760/cma.j.issn.0412-4081.2020.02.014.Li B, Chen YX. Research progress of outer retinal tabulation[J]. Chin J Ophthalmol, 2020, 56(2): 149-154. DOI: 10.3760/cma.j.issn.0412-4081.2020.02.014.
9. Massin P, Dubois-Laforgue D, Measet T, et al. Retinal and renal complications in patients with a mutation of mitochondrial DNA at position 3, 243 (maternally inherited diabetes and deafness). A case-control study[J]. Diabetologia, 2008, 51(9): 1664-1670. DOI: 10.1007/s00125-008-1073-1.

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Chinese Journal of Ocular Fundus Diseases

母系遺傳性糖尿病伴耳聾相關黃斑營養不良一例

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