CFAP410 is a ciliary basal body protein essential for cilia biogenesis and maintenance 1. The protein adopts a bimodular architecture with an N-terminal leucine-rich repeat domain and C-terminal domain, with a conserved surface patch mediating binding interactions 2. Beyond ciliogenesis, CFAP410 regulates cell morphology and cytoskeletal organization [UniProt:21834987] and participates in DNA damage repair [UniProt:26290490]. CFAP410 dysfunction causes ciliopathies with predominantly retinal phenotypes. Biallelic variants cause early-onset non-syndromic retinal degeneration presenting as cone-rod or cone-only dystrophy, characterized by reduced visual acuity, photophobia, and distinctive double hyperautofluorescence rings on imaging 345. Approximately 22% of patients present with skeletal abnormalities (axial spondylometaphyseal dysplasia), particularly those with variants in conserved leucine-rich regions 4. CFAP410 variants have also been identified in amyotrophic lateral sclerosis patients 6. Disease mechanisms involve structural destabilization from point mutations disrupting protein folding and partner interactions 2, as well as splicing defects from intronic variants 3. The genotype-phenotype correlation remains unclear, with identical variants producing variable phenotypic severity 37, suggesting modifier effects or allelic heterogeneity in CFAP410-associated ciliopathies.