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GENATLAS PHENOTYPE

last update : 14-03-2017

Symbol	ARRP21
Location	19p13.2
Name	retinitis pigmentosa autosomal recessive, 21
Corresponding gene	ARHGEF18
Other symbol(s)	RP78
Main clinical features	onset in the third to fourth decades with central visual disturbance, visual field defects, and mild nyctalopia fundus examination revealed optic disc pallor, attenuated retinal vessels, and irregular mid-peripheral intra-retinal pigment migration; fundus autofluorescence (FAF) imaging revealed widespread, irregular, peripheral hypo-autofluorescence no clinical evidence of other systemic, neurological, or other epithelial disease
Genetic determination	autosomal recessive
Function/system disorder	eye
Type	disease

Remark(s)