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| ciliopathies [2025/11/02 23:34] – Scott Larson | ciliopathies [2025/11/02 23:35] (current) – Scott Larson | ||
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| ^Ciliopathy ^Characteristic Eye Findings^ | ^Ciliopathy ^Characteristic Eye Findings^ | ||
| - | ^Bardet-Biedl syndrome (BBS) |Rod-cone dystrophy, retinitis pigmentosa, progressive vision loss| | + | ^[[bardet-biedl|Bardet-Biedl syndrome (BBS)]] |Rod-cone dystrophy, retinitis pigmentosa, progressive vision loss| |
| ^Senior-Løken syndrome (SLSN) |Early-onset retinal degeneration, | ^Senior-Løken syndrome (SLSN) |Early-onset retinal degeneration, | ||
| - | ^Joubert syndrome (JS) |Retinal dystrophy, chorioretinal coloboma, oculomotor apraxia, ptosis, nystagmus, strabismus| | + | ^[[[[joubert_syndrome|Joubert syndrome (JS)]] |Retinal dystrophy, chorioretinal coloboma, oculomotor apraxia, ptosis, nystagmus, strabismus| |
| ^Alström syndrome |Cone-rod dystrophy, progressive vision loss| | ^Alström syndrome |Cone-rod dystrophy, progressive vision loss| | ||
| ^Leber congenital amaurosis (LCA, CEP290-related) |Severe early-onset retinal dystrophy, blindness| | ^Leber congenital amaurosis (LCA, CEP290-related) |Severe early-onset retinal dystrophy, blindness| | ||
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| ^Jeune syndrome |Retinal degeneration (rare)| | ^Jeune syndrome |Retinal degeneration (rare)| | ||
| ^Primary ciliary dyskinesia |Rare retinal abnormalities| | ^Primary ciliary dyskinesia |Rare retinal abnormalities| | ||
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