Utilize este identificador para referenciar este registo: https://hdl.handle.net/10316/13199
Título: Evidence of widespread retinal dysfunction in patients with stargardt disease and morphologically unaffected carrier relatives
Autor: Maia-Lopes, Susana 
Silva, Eduardo D. 
Silva, Maria Fátima 
Reis, Aldina 
Faria, Pedro 
Castelo-Branco, Miguel 
Data: 2008
Editora: Association for Research in Vision and Ophthalmology
Citação: Investigative Ophthalmology and Visual Science. 49:3 (2008) 1191-1199
Título da revista, periódico, livro ou evento: Investigative Ophthalmology and Visual Science
Número: 3
Resumo: PURPOSE: To characterize contrast sensitivity (CS) across the visual field for two achromatic spatial-temporal frequencies in 21 families with Stargardt disease (STGD) and to correlate psychophysical impairment with patterns of change in multifocal electroretinography (mfERG). METHODS: Twenty-seven eyes from patients with STGD, 16 eyes from asymptomatic relatives, and 44 age-matched control eyes were included. Chromatic CS function was assessed by comparing protan, deutan, and tritan (Cambridge Color Test; Cambridge Research Systems Ltd., Rochester, UK) and anomaloscope measures (IF-2; Roland Consult, Wiesbaden, Germany). Achromatic CS measures were obtained with custom-made software in nine locations by using randomly interleaved staircases. The first task-low spatial frequency (LSF)-matched the known frequency-doubling method that is believed to activate the magnocellular pathway preferentially. The second included an intermediate spatial frequency (ISF, 3.5 cyc/deg). mfERGs (RETIscan; Roland Consult) were also obtained. Relatives were screened for ABCA4 mutations by ABCR400 microarray and direct sequencing. RESULTS: Central impairment of achromatic and chromatic CS (along the three isolation axes) was observed in STGD. LSF and ISF tasks revealed significant and widespread dysfunction in patients and their morphologically unaffected relatives, 80% of whom were found to be ABCA4 mutation carriers. Significant reduction of P1 amplitudes was also observed in both groups. CONCLUSIONS: CS function is impaired in patients with STGD at distinct spatial-temporal frequencies, which, in addition to the color vision deficits, suggests dual impairment of the magno- parvocellular pathways. STGD morphologically unaffected carriers may show patterns of psychophysical dysfunction that are mirrored by abnormal mfERG responses
URI: https://hdl.handle.net/10316/13199
ISSN: 0146-0404
DOI: 10.1167/iovs.07-1051
Direitos: openAccess
Aparece nas coleções:FMUC Medicina - Artigos em Revistas Internacionais

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