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GENATLAS PHENOTYPE

last update : 23-09-2010

Symbol	RP28
Location	2p15
HGNC id	10281
Name	retinitis pigmentosa 28
Corresponding gene	FAM161A
Other symbol(s)	ARRP14
Main clinical features	early onset (five to fifteen years), Indian family characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment on funduscopy, pallor of the optic discs and attenuation of blood vessels were common, but bone-spicule-like pigmentation was often mild or lacking (.PMID: 20705279))
Genetic determination	autosomal recessive
Prevalence	12p100 of ARRP
Function/system disorder	eye
Type	disease

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