François‐Xavier Borruat

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To identify the genetic defect, and to phenotype, three consanguineous Tunisian families presenting with early-onset retinal degeneration (EORD). All accessible family members were included. They underwent blood sampling and ophthalmological examination including, when possible, full-field ERG and pupillometry. A genome-wide linkage analysis was initiated.(More)
Two patients presented with unusual uniocular electroretinographic (ERG) phenomena. One patient showed the ERG characteristics of stationary night blindness in one eye only and the other patient presented with ERG evidence of uniocular cone dysfunction. In both patients, however, further electrophysiological and psychophysical studies and serial testing(More)
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