Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 14-04-2010

Symbol	RDSE
Location	4q32.1
Name	retinal dystrophy, severe, early-onset
Other name(s)	Leber congenital amaurosis 14
Corresponding gene	LRAT
Other symbol(s)	LCA14
Main clinical features	severe, early-onset disease, night blindness, poor vision and reduced visual field
Genetic determination	autosomal recessive
Related entries	also cause juvenile retinitis pigmentosa and a form of early-onset severe retinal dystrophy
Function/system disorder	eye
Type	disease

Gene product

Name	lecithin retinol acyltransferase

Remark(s)