IFT140
Intraflagellar transport protein 140; a component of the IFT-A complex essential for retrograde ciliary transport in photoreceptors. Mutations cause a spectrum of ciliopathies including non-syndromic LCA/EOSRD and retinitis pigmentosa (RP80). OMIM classifies IFT140 retinal disease as RP80 (617781); no official LCA subtype number assigned.
Preclinical Research
No clinical trial or company program. Academic proof-of-concept: because IFT140 is too large for a single AAV, a dual-AAV Cre-lox system was used to deliver the full gene, ameliorating degeneration and preserving visual function in an IFT140-associated retinal-degeneration mouse model (Datta et al., Human Molecular Genetics 2024; University of Iowa).
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.
16p13.3
Autosomal Recessive
<1% of LCA cases
Key Clinical Features
- 1No official LCA subtype number — classified as RP80 in OMIM
- 2Intraflagellar transport defect (retrograde IFT-A complex)
- 3Can present as non-syndromic LCA/EOSRD or retinitis pigmentosa
- 4Listed as an LCA gene in GeneReviews
Syndromic Associations
Patients with IFT140 mutations should be monitored for potential involvement of other organs:
- Short-rib thoracic dysplasia 9 (SRTD9)
- Mainzer-Saldino syndrome
- Nephronophthisis