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GENATLAS PHENOTYPE

last update : 19-08-2010

Symbol	CORDX5
Location	Xq28
Name	cone-rod dystrophy 5
Corresponding gene	OPN1MW , OPN1LW
Other symbol(s)	XLCOD5
Main clinical features	early-onset retinal degeneration, macular RPE disturbance onset either several years after birth or toward the end of the first decade, with rare nystagmus from an early age
Genetic determination	sex linked
Function/system disorder	eye
Type	disease

Remark(s)

.mutations in the LW/MW cone opsin gene array can, therefore, lead to a spectrum of disease, ranging from color blindness to progressive cone dystrophy