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Titolo:
Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14
Autore:
Zech, JC; Morle, L; Vincent, P; Alloisio, N; Bozon, M; Gonnot, C; Milazzo, S; Grange, JD; Trepsat, C; Godet, J; Plauchu, H;
Indirizzi:
Univ Lyon 1, Hop Edouard Herriot, Serv Ophtalmol, F-69437 Lyon 03, France Univ Lyon 1 Lyon France 03 riot, Serv Ophtalmol, F-69437 Lyon 03, France Ctr Genet Mol & Cellulaire, CNRS, UMR 5534, Villeurbanne, France Ctr GenetMol & Cellulaire Villeurbanne France 34, Villeurbanne, France Ctr St Victor, Amiens, France Ctr St Victor Amiens FranceCtr St Victor, Amiens, France Hop Croix Rousse, F-69317 Lyon, France Hop Croix Rousse Lyon France F-69317 Croix Rousse, F-69317 Lyon, France Hop Hotel Dieu, Serv Genet, Lyon, France Hop Hotel Dieu Lyon FranceHop Hotel Dieu, Serv Genet, Lyon, France
Titolo Testata:
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
fascicolo: 5, volume: 237, anno: 1999,
pagine: 387 - 393
SICI:
0721-832X(199905)237:5<387:WVDWGL>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
STICKLER SYNDROME TYPE-2; VERSICAN GENE; COL11A1 GENE; MUTATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Zech, JC Univ-694371, Hop Edouard Herriot, Serv Ophtalmol, Pavillon C,Pl Arsonval, F Univ Lyon 1 Pavillon C,Pl Arsonval Lyon France 03 Pl Arsonval, F
Citazione:
J.C. Zech et al., "Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14", GR ARCH CL, 237(5), 1999, pp. 387-393

Abstract

Background: It has been previously described that Wagner disease is linkedto chromosome 5q13-q14. This study was carried out to describe the ophthalmological aspects and report the results of genetic linkage analysis in a large pedigree affected by Wagner disease. Methods: Fourty members of one same family agreed to be examined. Results:Twenty patients presented vitreoretinal degeneration in both eyes without any extra-ocular abnormalities. In young patients, visual acuity was usually normal after correction of frequent mild myopia. Presenile cataracts progressed by the third decade and required removal for visual rehabilitation. The primary disorder involved an abnormal vitreous. A few avascular vitreous bands were usually the only optical feature in the mostly empty vitreous cavity. A circumferential vitreous condensation formed in contact with the retina on many spots. Less common retinal findings included retinal detachment, abnormal retinal pigmentation, progressive atrophy of the RPE simulating choroideremia and lattice degeneration. Genetic analysis revealed a highly significant linkage (lod score >5.0) between the disease and 10 markers of the chromosome 5q13-q14 region. Two recombination events allowed us to refine the linked interval to 20 cM between the D5S650 and D5S618 markers. Conclusion: Ophthalmological aspects of Wagner's disease appear to progress with age. Regular ophthalmological examination is important for detectingretinal abnormalities. The gene involved in Wagner's disease lies in a 20 cM interval on chromosome 5q13-q14.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/12/20 alle ore 22:34:30