Back to All TypesOMIM #608553
LCA9
NMNAT1
Nicotinamide nucleotide adenylyltransferase; essential for NAD biosynthesis in photoreceptors
No Targeted Treatment Yet
Chromosomal Locus
1p36.22
Inheritance
Autosomal Recessive
Frequency
<1% of LCA cases
Key Clinical Features
- 1Severe macular atrophy (macular coloboma-like lesion)
- 2Vision loss from infancy
- 3Progressive macular degeneration is characteristic
Sources: