Isolated rod-cone dystrophy in homozygous <i>IFT140</i> missense allele p.Tyr923Asp

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 Pakistani family with lifelong nyctalopia and progressive peripheral field loss associated with a homozygous IFT140 missense variant, c.2767T > G (p.Tyr923Asp) (NM_014714.3).</p> <p>Detailed ophthalmic evaluation included multimodal retinal imaging, electrodiagnostics, and microperimetry.

Systemic screening and segregation analysis were undertaken.</p> <p>Both brothers exhibited classical rod-cone dystrophy with parafoveal hyperautofluorescent rings and parafoveal ellipsoid zone loss on OCT. Electroretinography confirmed reduced dark and light-adapted responses. Systemic evaluation at diagnosis and eight years later, including renal, skeletal, and auditory assessments, was normal.