| Ciliopathy | Characteristic Eye Findings |
|---|---|
| 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 (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 |