Biallelic pathogenic variants in IFT140 or other IFT-A complex genes can cause defective retrograde cilial transport.

Retinitis pigmentosa sine pigmento, a variant of RP with an absence of characteristic peripheral bone-spicule like pigmentary changes.

Results extended the mutation spectrum of known RP genes in Han Chinese, making a contribution to RP gene diagnosis and the pathogenetic . .

Series of patients with nonsyndromic retinitis pigmentosa (RP) due to IFT140 was investigated in this study.

In this study, we totally investigated seven unrelated non-syndromic RD patients, including five RP and two LCA cases.