PT  - JOURNAL ARTICLE
AU  - M Michaelides
AU  - D M Hunt
AU  - A T Moore
TI  - The cone dysfunction syndromes
AID  - 10.1136/bjo.2003.027102
DP  - 2004 Feb 01
TA  - British Journal of Ophthalmology
PG  - 291--297
VI  - 88
IP  - 2
4099  - http://bjo.bmj.com/content/88/2/291.short
4100  - http://bjo.bmj.com/content/88/2/291.full
SO  - Br J Ophthalmol2004 Feb 01; 88
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.