ASSOCIATION BETWEEN BESTS-DISEASE, TURNER SYNDROME, AND PIGMENTARY DYSTROPHY

This article reports on a 19-year-old female who was followed for 16 y ears because she presented an association between Best's disease, Turn er syndrome and retinal pigment epithelium (RPE) dystrophy. The patien t's karyotype showed an isochromosome X. Although in Turner Syndrome i t has been observed an increased frequency of diverse ocular pathologi es, it has not been described, at least in the authors' knowledge, its association to Best's vitelliform dystrophy to date. The authors will also discuss the interest of this association in relation with recent s advances in etiopathogenic research of Best's disease, which points at a genetic mutation as responsible of metabolic disturbance in RPE c ells, causing an accumulation oi lipofucsin.