Back to All TypesOMIM #613843
LCA15
TULP1
Tubby-like protein; involved in photoreceptor protein transport
Preclinical Research
No clinical trial or company program. Early academic proof-of-concept: AAV-delivered Tulp1 supplementation was tested in Tulp1-knockout mice but provided only limited benefit, indicating better delivery strategies are still needed (Palfi et al., Frontiers in Neuroscience 2020).
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
6p21.31
Inheritance
Autosomal Recessive
Frequency
<1% of LCA cases
Key Clinical Features
- 1Photoreceptor protein transport defect
- 2Progressive photoreceptor degeneration