Back to All TypesOMIM #608553
LCA9
NMNAT1
Nicotinamide nucleotide adenylyltransferase; essential for NAD biosynthesis in photoreceptors
Preclinical Research
OPGx-NMNAT1 (Opus Genetics) — an AAV gene-augmentation program in preclinical development; not yet in humans. Academic proof-of-concept: AAV-mediated NMNAT1 delivery preserved retinal structure and function in an NMNAT1-mutant mouse model (Greenwald et al., Mol Ther Methods Clin Dev 2020), with photoreceptor-targeted expression later shown sufficient to prevent degeneration (Brown et al., 2023). No clinical trial is registered yet.
Sourced & cited — not yet expert-reviewed
Every statement here is backed by a cited primary source, but a specialist has not formally reviewed this page 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