LAUSR

Retinitis pigmentosa (RP) refers to a group of inherited disorders that affect the retina’s ability to respond to light, leading to progressive visual loss. One of the genes found to be responsible for RP is IFT140, a ciliary transport gene (OMIM *614620). Homozygous and compound heterozygous IFT140 variants have been reported in Mainzer-Saldino syndrome and Jeune syndrome(1). However, in recent literature, nonsyndromic RP due to variants in IFT140 have been reported(2). IFT140 encodes a subunit of intraflagellar transport complex A (IFTA), which is involved in retrograde ciliary transport(3). It was previously referred to as KIAA0590 and located on chromosome 16p13.3. It is highly expressed in kidneys with moderate expression in ovaries, testis, lungs, and prostate. Schmidts et al. (2013) demonstrated high expression of Ift140 in renal and retinal tissues in mouse embryos(4). Although the phenotype associated with IFT140 variants is still emerging, it appears to encompass a variable spectrum ranging from nonsyndromic, isolated RP (as demonstrated in this clinical report), to short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9; OMIM # 266920).