current
NMNAT1:c.457C>G (p.Leu153Val) AND Leber congenital amaurosis 9
current
classified by single submitter
Pathogenic
germline
human
not provided
curation
See 608700.0003 and Chiang et al. (2012).
22842231
NMNAT1:c.457C>G (p.Leu153Val)
NM_022787.3:c.457C>G
NG_032954.1:g.43891C>G
NC_000001.10:g.10042376C>G
NP_073624.2:p.Leu153Val
missense
L153V
LEU153VAL
1p36.2
nicotinamide nucleotide adenylyltransferase 1
NMNAT1
Leber congenital amaurosis 9
Leber Congenital Amaurosis
LCA9
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.
Neonatal/infancy
1-9 / 100 000
20301475
current
Pathogenic
germline
human
not provided
curation
See 608700.0003 and Chiang et al. (2012).
22842231
NMNAT1, LEU153VAL
LEU153VAL
NMNAT1
LEBER CONGENITAL AMAUROSIS 9