Abstract

COCO MARTIN, RM. X-linked blue cone monochromatism: A familial case report. Arch Soc Esp Oftalmol [online]. 2005, vol.80, n.1, pp.35-40. ISSN 0365-6691.

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.

Keywords : Blue Cone Monochromatism; genetic diagnosis.