Jasmina Cehajic-Kapetanovic

Isolated rod-cone dystrophy in homozygous IFT140 missense allele p.Tyr923Asp.

OBJECTIVE IFT140 encodes a core intraflagellar transport protein essential for ciliary function. While biallelic IFT140 variants typically cause syndromic ciliopathies such as Mainzer-Saldino syndrome, isolated retinal phenotypes are increasingly recognized. We describe two affected siblings from a consanguineous Pakis...