Male infertility may be associated with IFT140-related autosomal recessive retinitis pigmentosa

Pathogenic variants in IFT140 have been reported in cases of both syndromic and nonsyndromic retinitis pigmentosa (RP). Syndromic forms of IFT140-related RP have been associated with short-rib thoracic dysplasia. IFT140 variants have also been shown to cause spermatogenic dysfunction leading to infertility. However, variants in IFT140 have not been reported in patients with concurrent RP (including nonsyndromic RP) and infertility.

A chart review was performed in a 42 year old male with RP and male factor infertility.

Genetic testing confirmed this patient's RP was related to variants in IFT140. Chart review and exam confirmed no findings consistent with short-rib thoracic dysplasia, leading to the conclusion that this was a form of nonsyndromic RP as has been previously reported. However, the patient had undergone an infertility workup with findings of spermatogenic dysfunction as found in other males with IFT140-related infertility. This has led us to speculate this patient may have a syndromic form of IFT140 -related RP associated with infertility and abnormal spermatogenesis.

A potential association between IFT140-related RP and male factor infertility may exist.