RT Journal Article SR Electronic T1 The cone dysfunction syndromes JF British Journal of Ophthalmology JO Br J Ophthalmol FD BMJ Publishing Group Ltd. SP 291 OP 297 DO 10.1136/bjo.2003.027102 VO 88 IS 2 A1 M Michaelides A1 D M Hunt A1 A T Moore YR 2004 UL http://bjo.bmj.com/content/88/2/291.abstract AB The cone dystrophies comprise a heterogeneous group of disorders characterised by visual loss, abnormalities of colour vision, central scotomata, and a variable degree of nystagmus and photophobia. They may be stationary or progressive. The stationary cone dystrophies are better described as cone dysfunction syndromes since a dystrophy often describes a progressive process. These different syndromes encompass a wide range of clinical and psychophysical findings. The aim is to review current knowledge relating to the cone dysfunction syndromes, with discussion of the various phenotypes, the currently mapped genes, and genotype-phenotype relations. The cone dysfunction syndromes that will be discussed are complete and incomplete achromatopsia, oligocone trichromacy, cone monochromatism, blue cone monochromatism, and Bornholm eye disease. Disorders with a progressive cone dystrophy phenotype will not be discussed.