Monocromatismo de conos azules ligado a X: Una familia afecta

Abstract

A family affected by X-linked blue cone monochromatism is presented. There are 4 male affected individuals and 9 female carriers. 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.