Background: Pathogenic variants in have been reported in cases of both syndromic and nonsyndromic retinitis pigmentosa (RP). Syndromic forms of -related RP have been associated with short-rib thoracic dysplasia. variants have also been shown to cause spermatogenic dysfunction leading to infertility. However, variants in have not been reported in patients with concurrent RP (including nonsyndromic RP) and infertility.
Methods: A chart review was performed in a 42 year old male with RP and male factor infertility.
Results: Genetic testing confirmed this patient's RP was related to variants in . 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 -related infertility. This has led us to speculate this patient may have a syndromic form of -related RP associated with infertility and abnormal spermatogenesis.
Conclusions: A potential association between -related RP and male factor infertility may exist.
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| http://dx.doi.org/10.1080/13816810.2023.2291672 | DOI Listing |
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