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GENATLAS PHENOTYPE

last update : 20-12-2022

Symbol	RCD7
Location	10q23.33
Name	retinal cone dystrophy 7
Other name(s)	achromatopsia-5
Corresponding gene	PDE6C
Other symbol(s)	COD4, ACHM5
Main clinical features	early-onset cone dystrophy, visual acuity and cone ERG progressively declined in early teens, but normal rod responses in all oldest patients forms presenting complete or incomplete achromatopsy ERG show complete absence or severely reduced cone photoreceptor function, while rod function is mostly normal (PMID: 19887631))
Genetic determination	autosomal recessive
Function/system disorder	eye
Type	disease

Remark(s)

likely a spectrum of mechanisms of missense PDE6C mutations in achromatopsia including catalytic defects, protein mislocalization, or a specific sequence of proteolytic degradation (PMID: 25461672))