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[X-linked blue cone monochromatism. A familial case report]
1Unidad de Mácula y Degeneraciones Retinianas, Instituto Universitario de Oftalmobiología Aplicada, Universidad de Valladolid, Valladolid, Spain. rosa@ioba.med.uva.es
Clinical Case:
A family affected by X-linked blue cone monochromatism is presented. There are 4 male affected individuals and 9 female carriers.
Discussion:
The diagnosis of blue cone monochromatism is based on severely affected color vision with preserved blue function, poor visual acuity, nystagmus, nearly absent photopic ERG, and a family pedigree compatible with X-linked inheritance. The female carriers showed normal visual function and ocular motility. It is important to be familiar with non progressive cone dysgenesis in order to make a genetic diagnosis of the illnesses in this group.
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