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GENATLAS PHENOTYPE

last update : 25-11-2020

Symbol	RP80
Location	16p13.3
Name	retinitis pigmentosa 80
Corresponding gene	IFT140
Main clinical features	night blindness in childhood and vision loss at adulthood fundus images showed widespread retinal bone spicule pigmentation with a 'gold foil' macular reflex no skeletal, hepatic, or renal abnormalities
Genetic determination	autosomal recessive
Function/system disorder	eye
Type	disease

Remark(s)