Retinitis pigmentosa 1-like protein 1 (RP1L1) (RP1L1)

Retinitis pigmentosa 1-like protein 1 (RP1L1) is a large, photoreceptor-specific protein that plays a vital role in the structural maintenance and morphogenesis of the outer segments of rod and cone cells in the retina [UniProt: Q8IWN7]. As a member of the doublecortin family, it functions as a microtubule-associated protein and interacts with RP1 to stabilize the axoneme, which is essential for the transport of proteins required for phototransduction [NCBI Gene: 116969]. Mutations in the RP1L1 gene are the primary cause of Occult Macular Dystrophy (OMD), also known as Miyake disease, a condition characterized by progressive central vision loss despite a normal fundus appearance [OMIM: 608581]. It is also associated with autosomal dominant retinitis pigmentosa and cone-rod dystrophy [PubMed: 20301619]. While there are currently no FDA-approved pharmacological treatments or small molecules targeting RP1L1, it is considered a high-priority target for experimental gene augmentation therapies using adeno-associated virus (AAV) vectors. Clinical management currently focuses on diagnostic genetic screening and monitoring retinal integrity through optical coherence tomography (OCT) and multifocal electroretinography (mfERG).

Other names

RP1-like protein 1D9Ertd423eMiyake disease protein

Gene augmentation therapy