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GENATLAS PHENOTYPE

last update : 05-10-2016

Symbol	RP76
Location	1p34.1
Name	retinitis pigmentosa 76
Corresponding gene	POMGNT1
Main clinical features	nyctalopia and vision problems in infancy (age of onset ranging from 12 to 40 years) later constricted visual fields, and peripapillary atrophy; funduscopy revealed bone spicule pigmentation and attenuated retinal vessels, optic disc pallor in addition, rod responses were severely reduced on ERG
Genetic determination	autosomal recessive
Function/system disorder	eye
Type	disease

Remark(s)