Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
MACULAR PATTERN DYSTROPHY IN PATIENTS WITH DEAFNESS AND DIABETES
Autore:
BONTE CA; MATTHIJS GL; CASSIMAN JJ; LEYS AM;
Indirizzi:
DEPT OPHTHALMOL,KAPUCIJNENVOER 33 B-3000 LOUVAIN BELGIUM UNIV HOSP,DEPT OPHTHALMOL LOUVAIN BELGIUM UNIV HOSP,CTR HUMAN GENET LOUVAIN BELGIUM
Titolo Testata:
Retina
fascicolo: 3, volume: 17, anno: 1997,
pagine: 216 - 221
SICI:
0275-004X(1997)17:3<216:MPDIPW>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
MITOCHONDRIAL TRNA(LEU(UUR)) GENE; POINT MUTATION; LACTIC-ACIDOSIS; EPISODES MELAS; DNA; MELLITUS; MYOPATHY; PATHOLOGY; DISEASES; SUBTYPE;
Keywords:
DIABETES AND DEAFNESS; MACULAR PATTERN DYSTROPHY; MITOCHONDRIAL POINT MUTATION 3243;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
18
Recensione:
Indirizzi per estratti:
Citazione:
C.A. Bonte et al., "MACULAR PATTERN DYSTROPHY IN PATIENTS WITH DEAFNESS AND DIABETES", Retina, 17(3), 1997, pp. 216-221

Abstract

Purpose: To report the characteristic findings of a macular pattern dystrophy in patients with diabetes and deafness resulting from the mitochondrial point mutation at position 3243 and to expand the clinical spectrum of this condition by describing functional testing results, Methods: Four diabetic patients who were referred to the eye departmentfor diabetic fundus examination were found to harbor a macular pattern dystrophy. Further examination of visual fields; color contrast sensitivity; and the ear, nose, and throat; and molecular analysis of the mitochondrial genome were performed. Two of our patients were sisters. Their relatives also were: examined. Results: All four patients were found to harbor the mitochondrial point mutation at position 3243 and presented clinically with the phenotype of diabetes and deafness, The macular pattern dystrophy described in these patients seems to be typical for this condition, Results of a g-year follow-up study of one of the patients showed mild progression of atrophic changes. The overall prognosis of the retinopathy is likely to be goad. Conclusion: These cases demonstrate the need for further molecular investigations when a macular pattern dystrophy is found in a patient with diabetes and deafness.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/07/20 alle ore 18:12:46