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Titolo:
Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1)
Autore:
Eksandh, L; Ekstrom, U; Abrahamson, M; Bauer, B; Andreasson, S;
Indirizzi:
Univ Lund Hosp, Dept Ophthalmol, S-22185 Lund, Sweden Univ Lund Hosp Lund Sweden S-22185 Dept Ophthalmol, S-22185 Lund, Sweden Univ Lund Hosp, Dept Clin Chem, S-22185 Lund, Sweden Univ Lund Hosp LundSweden S-22185 Dept Clin Chem, S-22185 Lund, Sweden
Titolo Testata:
ACTA OPHTHALMOLOGICA SCANDINAVICA
fascicolo: 5, volume: 79, anno: 2001,
pagine: 524 - 530
SICI:
1395-3907(200110)79:5<524:DCEITF>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
ABCA4 ABCR GENE; RETINITIS-PIGMENTOSA; MULTIFOCAL ELECTRORETINOGRAPHY; FUNDUS FLAVIMACULATUS; DIFFERENT MUTATIONS; TRANSPORTER GENE; DISEASE; DEGENERATION; PHENOTYPE; PHOTORECEPTORS;
Keywords:
Stargardt's macular dystrophy (STGD1); ABCR; ABCA4; clinical expression, fullfield ER; multifocal-ERG;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Eksandh, L Univ Lund Hosp, Dept Ophthalmol, S-22185 Lund, Sweden Univ LundHosp Lund Sweden S-22185 lmol, S-22185 Lund, Sweden
Citazione:
L. Eksandh et al., "Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1)", ACT OPHTH S, 79(5), 2001, pp. 524-530

Abstract

Purpose: To describe the clinical expressions, with emphasis on electrophysiological examinations, in two Swedish families with Stargardt's macular dystrophy (STGD1). Methods. Two pairs of siblings with STGD1, for whom diagnosis had been confirmed by genetic linkage to the ABCA4 gene region, were examined regardingvisual acuity, kinetic perimetry, fundus photography, full-field ERG and multifocal ERG (MERG). Possible disease-causing mutations were screened for by DNA sequencing of selected regions of the ABCA4 gene. Results. All STGD1 patients, had visual acuity 0.07-0.1. The two families presented different fundus appearances, MERGs and implicit times on. 30 Hz flicker white light full-field ERGs. Genetic analysis revealed one unique sequence variation in exon 19 of the ABCA4 gene, in one allele from the patients of one of the families. This point mutation causes the amino acid substitution T972N in the ABCR protein. Conclusion. Two pairs of siblings with STGD1 presented two different expressions of the disease regarding the distribution of the retinal dysfunction. One possible molecular explanation to the different clinical expressions may be the T972N substitution present in the ABCR protein in one of the STGD1 families investigated.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/01/20 alle ore 11:57:47