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- W2787567231 abstract "PurposeThree family cases with Retinitis pigmentosa (RP) rod-cone dystrophy with autosomal dominant inheritance according to American Academy of Ophthalmology classification were diagnosed and studied: the grandmother G. D., 83 years old; the son A.D., 61 years old and granddaughter A.B., 27 years old.MethodsThe diagnosis was confirmed clinically, ERG, OCT, Angiography, (with colour tests) ATL, Ishihara table and Rabkin chart, All color Anomaloscope IF-2 TOMEY, Test 28 HUE de Roth Farnsworth-Munsell, with kinetic Kugel perimeter and automated Humphrey perimeter using the SITA-Fast computerized perimetric threshold strategy.ResultsDuring the photopic test with ERG, there was observed retinogram with normal morphology and polarity but with drastic decline of the amplitude by 50 mV on average. In the process of dark adaptation, a decline of bioelectric activity was detected: from subnormal to non-recording ERG during white and blue flashes at 30 Hz. In all of the three different generations’ cases, there was established reduction in residual bioelectric activity with the advancing of age of the patients with progressive degenerative RP disease. During the colour test, the grandmother and the father could read only ATL, which proves there was no acquired colour vision disorder. This is in confirmation to the autosomal dominant inheritance. In the process of anomaloscopic test and the colour tables and charts of Ishihara and Rabkin, as well as Test 28 HUE de Roth Farnsworth-Munsell, the grandmother and the father were found to be with deuteranomaly. The granddaughter had a normal trichromacy. The perimetric tests showed concentric narrowing of the visual field to tubular vision.ConclusionsSerum for genetic tests was taken from the three family cases in order to confirm the diagnosis and administer a gene therapy." @default.
- W2787567231 created "2018-02-23" @default.
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- W2787567231 date "2015-09-23" @default.
- W2787567231 modified "2023-09-27" @default.
- W2787567231 title "Three family cases with Retinitis pigmentosa rod-cone dystrophy with autosomal dominant inheritance" @default.
- W2787567231 doi "https://doi.org/10.1111/j.1755-3768.2015.0352" @default.
- W2787567231 hasPublicationYear "2015" @default.
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