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Pathogenic variants in  INPP5E  cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inherited retinal degenerations (IRDs) has not been made. We validate this association by reporting 16 non-syndromic IRD patients from ten families with bi-allelic mutations in  INPP5E . Additional two patients showed early onset IRD with limited JBTS features. Detailed phenotypic description for all probands is presented. We report 14 rare  INPP5E  variants, 12 of which have not been reported in previous studies. We present tertiary protein modeling and analyze all  INPP5E  variants for deleteriousness and phenotypic correlation. We observe that the combined impact of  INPP5E  variants in JBTS and non-syndromic IRD patients does not reveal a clear genotype–phenotype correlation, suggesting the involvement of genetic modifiers. Our study cements the wide phenotypic spectrum of  INPP5E  disease, adding proof that sequence defects in this gene can lead to early-onset non-syndromic IRD.

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD