current
RPE65:c.1292A>G (p.Tyr431Cys) AND Leber congenital amaurosis 2
current
classified by single submitter
Pathogenic
germline
human
not provided
curation
See 180069.0011 and Al-Khayer et al. (2004).
14962443
RPE65:c.1292A>G (p.Tyr431Cys)
NM_000329.2:c.1292A>G
NG_008472.1:g.23632A>G
NC_000001.10:g.68897011T>C
NP_000320.1:p.Tyr431Cys
missense
Y431C
TYR431CYS
1p31.3
retinal pigment epithelium-specific protein 65kDa
RPE65
Leber congenital amaurosis 2
AMAUROSIS CONGENITA OF LEBER II
Leber congenital amaurosis type 2
Amaurosis congenita of Leber, type 2
LCA2
Leber congenital amaurosis (LCA), a severe dystrophy of the retina, typically becomes evident in the first year of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia, and keratoconus. Visual acuity is rarely better than 20/400. A characteristic finding is Franceschetti's oculo-digital sign, comprising eye poking, pressing, and rubbing. The appearance of the fundus is extremely variable. While the retina may initially appear normal, a pigmentary retinopathy reminiscent of retinitis pigmentosa is frequently observed later in childhood. The electroretinogram (ERG) is characteristically "nondetectable" or severely subnormal.
Autosomal recessive inheritance
Neonatal/infancy
loss of function
1-9 / 100 000
20301475
current
pathogenic
germline
human
not provided
curation
See 180069.0011 and Al-Khayer et al. (2004).
14962443
RPE65, TYR431CYS
TYR431CYS
RPE65
LEBER CONGENITAL AMAUROSIS 2