Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: A case report

Graefe's Archive for Clinical and Experimental Ophthalmology

Volumn 242, Issue 10, 2004, Pages 878-880

  Barboni, Piero ^a   Savini, Giacomo ^a   Plazzi, Giuseppe ^b   Bellan, Marzio ^b   Valentino, Maria Lucia ^b   Zanini, Maurizio ^a   Montagna, Pasquale ^b   Hirano, Michio ^c   Carelli, Valerio ^b  

^a Centro Salus   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; GUANINE; THYMIDINE PHOSPHORYLASE;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CLINICAL OBSERVATION; CORNEA DISEASE; DISEASE ASSOCIATION; DISEASE EXACERBATION; EXTERNAL OPHTHALMOPLEGIA; FOLLOW UP; GENE MUTATION; GLAUCOMA; HEALTH STATUS; HOMOZYGOSITY; HUMAN; MALE; MNGIE SYNDROME; NEUROLOGIC EXAMINATION; OPHTHALMOSCOPY; OPTIC DISK; OPTIC NERVE DISEASE; OPTICAL COHERENCE TOMOGRAPHY; PRIORITY JOURNAL; PTOSIS; STANDARDIZATION; VISUAL FIELD; VISUAL SYSTEM EXAMINATION;

ADULT; BLEPHAROPTOSIS; CORNEAL DISEASES; FATAL OUTCOME; GASTROINTESTINAL DISEASES; HUMANS; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; OPHTHALMOPLEGIA; OPTIC DISK; OPTIC NERVE DISEASES; PERIMETRY; POINT MUTATION; THYMIDINE PHOSPHORYLASE; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL FIELDS;

EID: 8444221569     PISSN: 0721832X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00417-004-0914-y     Document Type: Article

References (8)

1. Carelli V, Ross-Cisneros FN, Sadun AA (2002) Optic nerve degeneration and mitochondrial dysfunction: Genetic and acquired optic neuropathies. Neurochem Int 40: 573-584 10.1016/S0197-0186(01)00129-2, 11850115
2. Mashima Y, Kimura I, Yamamoto Y, et al (2003) Optic disc excavation in the atrophic stage of Leber's hereditary optic neuropathy: Comparison with normal tension glaucoma. Graefe's Arch Clin Exp Ophthalmol 241: 75-80
3. Nishigaki Y, Martì R, Copeland WC, Hirano M (2003) Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. J Clin Invest 111: 1913-1921 10.1172/JCI200317828, 12813027
4. Nishino I, Spinazzola A, Papadimitriou A, et al (2000) Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol 47: 792-800 10.1002/1531-8249(200006)47:6<792::AID-ANA12>3.3.CO;2-P, 10852545
5. Papadimitriou A, Comi GP, Hadjigeorgiou GM, et al (1998) Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome. Neurology 51: 1086-1092 9781534
6. Taylor RW, Birch-Machin MA, Schaefer J, et al (1996) Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia. Ann Neurol 39: 224-232 1:STN:280:BymC1MjpsVI%3D, 8967754
7. Threlkeld AB, Miller NR, Golnik KC, et al (1992) Ophthalmic involvement in myo-neuro-gastrointestinal encephalopathy syndrome. Am J Ophthalmol 114: 322-328 1524123
8. Votruba M, Thiselton D, Bhattacharya SS (2003) Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy. Br J Ophthalmol 87: 48-53 10.1136/bjo.87.1.48, 12488262