====== Ciliopathies and characteristic eye findings ====== ^Ciliopathy ^Characteristic Eye Findings^ ^[[bardet-biedl|Bardet-Biedl syndrome (BBS)]] |Rod-cone dystrophy, retinitis pigmentosa, progressive vision loss| ^Senior-Løken syndrome (SLSN) |Early-onset retinal degeneration, nystagmus, cone-rod dystrophy| ^[[[[joubert_syndrome|Joubert syndrome (JS)]] |Retinal dystrophy, chorioretinal coloboma, oculomotor apraxia, ptosis, nystagmus, strabismus| ^Alström syndrome |Cone-rod dystrophy, progressive vision loss| ^Leber congenital amaurosis (LCA, CEP290-related) |Severe early-onset retinal dystrophy, blindness| ^Meckel-Gruber syndrome |Retinal dystrophy, coloboma (often lethal)| ^Nephronophthisis-related ciliopathies |Retinal degeneration, variable severity| ^IFT140-related ciliopathies |Retinal dystrophy, cataracts, lens opacities, strabismus| ^Oral-facial-digital syndrome |Coloboma, retinal changes| ^Jeune syndrome |Retinal degeneration (rare)| ^Primary ciliary dyskinesia |Rare retinal abnormalities| {{tag>syndrome}}