NMNAT1
Nicotinamide nucleotide adenylyltransferase; essential for NAD biosynthesis in photoreceptors
Preklinik Araştırma
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.
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1p36.22
Otozomal Resesif
<1% LCA vakalarının
Temel Klinik Özellikler
- 1Severe macular atrophy (macular coloboma-like lesion)
- 2Vision loss from infancy
- 3Progressive macular degeneration is characteristic