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Titolo:
RETINAL MANIFESTATIONS IN MITOCHONDRIAL DISEASES ASSOCIATED WITH MITOCHONDRIAL-DNA MUTATION
Autore:
ISASHIKI Y; NAKAGAWA M; OHBA N; KAMIMURA K; SAKODA Y; HIGUCHI I; IZUMO S; OSAME M;
Indirizzi:
KAGOSHIMA UNIV,FAC MED,DEPT OPHTHALMOL,SAKURAGAOKA 8-35-1 KAGOSHIMA 890 JAPAN KAGOSHIMA UNIV,FAC MED,CTR CHRON VIRAL DIS KAGOSHIMA 890 JAPAN KAGOSHIMA UNIV,FAC MED,DEPT INTERNAL MED 3 KAGOSHIMA 890 JAPAN
Titolo Testata:
Acta ophthalmologica Scandinavica
fascicolo: 1, volume: 76, anno: 1998,
pagine: 6 - 13
SICI:
1395-3907(1998)76:1<6:RMIMDA>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEREDITARY OPTIC NEUROPATHY; KEARNS-SAYRE SYNDROME; DIABETES-MELLITUS; CYTOCHROME-OXIDASE; MYOCLONIC EPILEPSY; LACTIC-ACIDOSIS; EPISODES MELAS; MYOPATHY; GENE; ENCEPHALOMYOPATHIES;
Keywords:
MITOCHONDRIAL DISEASES; MITOCHONDRIAL DNA ABNORMALITIES; MITOCHONDRIAL RETINOPATHY; SYSTEMIC MANIFESTATIONS; DIABETIC RETINOPATHY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
32
Recensione:
Indirizzi per estratti:
Citazione:
Y. Isashiki et al., "RETINAL MANIFESTATIONS IN MITOCHONDRIAL DISEASES ASSOCIATED WITH MITOCHONDRIAL-DNA MUTATION", Acta ophthalmologica Scandinavica, 76(1), 1998, pp. 6-13

Abstract

Purpose: To scrutinize retinal involvement associated with distinct mitochondrial DNA (mtDNA) defects, we reviewed the records of a consecutive series of patients with various mitochondrial diseases. Methods: Clinical, laboratory and mtDNA studies were performed in: five patients with Kearns-Sayre syndrome (KSS); six patients with chronic progressive external ophthalmoplegia (CPEO); three patients, with mitochondrial myopathy; encephalopathy, lactic acidosis, and stroke-like episode (MELAS); three patients with myoclonic epilepsy and ragged-red fibers (MERRF); 20 patients,vith Leber's hereditary optic neuropathy (LOHN); 30 patients with simple diabetes mellitus. Results: All KSS patients with neurologic and cardiac symptoms associated with a deletion of mtDNAin muscle biopsy specimens show ed widespread retinal pigmentary changes characterized by salt-and pepper-like appearance of the fundus, Three of six patients with CPEO, a mild variant of KSS, showed subtle defects at the level of retinal pigment epithelium of the posterior pole, although mtDNA deletion was similar to that in KSS, Of three patients with MELAS syndrome, one patient showed juvenile cataract and mild retinal pigmentary defect in the posterior pole. Of three patients withMERRF syndrome associated with a mtDNA mutation at nucleotide position (np) 8344, one patient showed mild pigment disorder in the posteriorpole in addition to optic neuropathy, Two of 20 patients with LHON associated with a mtDNA mutation at np 11778 showed mild pigmentary defect in the macula together with typical optic neuropathy. In addition, two of 30 patients,vith isolated diabetes mellitus showed a mtDNA mutation at np 3243 (MELAS mutation), but they did not present with any other neurologic or multisystem disorder. Conclusion: The retina, in particular the retinal pigment epithelium, is highly vulnerable to be involved by mtDNA defect, and the retinopathy is phenotypically variable and frequently subclinical, depending to some extent on the type or site of mtDNA defect.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/07/20 alle ore 21:41:33