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GENATLAS PHENOTYPE

last update : 21-12-2009

Symbol	MDBS3
Location	12q13.12
Name	macular dystrophy, butterfly shaped pigmentary 3
Corresponding gene	PRPH
Main clinical features	ophthalmologic assessment with slit-lamp biomicroscopy, dilated fundus examination, fundus photography, autofluorescence imaging and electrophysiological tests characterized by an adulthood onset of symptoms, and their best corrected visual acuity was between 20/50 and 20/20; fundus examination showed typical fundus flavimaculatus or butterfly-shaped pattern dystrophy
Genetic determination	autosomal recessive
Function/system disorder	eye
Type	disease

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