[X-linked blue cone monochromatism. A familial case report].
METHODS
A family affected by X-linked blue cone monochromatism is presented. There are 4 male affected individuals and 9 female carriers.


CONCLUSIONS
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.
Coco Martín
R M
RM
Unidad de Mácula y Degeneraciones Retinianas, Instituto Universitario de Oftalmobiología Aplicada, Universidad de Valladolid, Valladolid, Spain. rosa@ioba.med.uva.es
D000328:Adult; D003119:Color Perception Tests; D003117:Color Vision Defects / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D010375:Pedigree; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology*; D014792:Visual Acuity