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| joubert_syndrome [2025/11/02 23:15] – [References] Scott Larson | joubert_syndrome [2025/11/02 23:26] (current) – [Etiology] Scott Larson | ||
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| ==== Eye Findings ==== | ==== Eye Findings ==== | ||
| * **Ocular Motor Abnormalities** | * **Ocular Motor Abnormalities** | ||
| + | * Oculomotor Apraxia | ||
| + | * inability to voluntarily initiate saccades and compensate by using head thrusts. | ||
| * Absent smooth pursuit | * Absent smooth pursuit | ||
| * Hypometric saccades with prolonged latency; they change direction of fixation by turning their heads | * Hypometric saccades with prolonged latency; they change direction of fixation by turning their heads | ||
| * Nystagmus – pendular, rotary, horizontal, see-saw, torsional | * Nystagmus – pendular, rotary, horizontal, see-saw, torsional | ||
| * Supranuclear Ocular motor palsies | * Supranuclear Ocular motor palsies | ||
| - | * Strabismus | + | * Strabismus |
| - | * * **Congenital Retinal Dystrophy** (30% some definitely have normal appearing fundi) | + | * Horizontal (esotropia or exotropia) or vertical |
| + | | ||
| * Progressive chorioretinal pigmentary changes including reports of " | * Progressive chorioretinal pigmentary changes including reports of " | ||
| * Attenuation of retinal arterioles | * Attenuation of retinal arterioles | ||
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| * Ptosis – Bilateral or Unilateral | * Ptosis – Bilateral or Unilateral | ||
| * Chorioretinal coloboma 17%-30% | * Chorioretinal coloboma 17%-30% | ||
| + | * Optic Nerve coloboma. | ||
| === Differentiating Joubert’s from Leber’s Congenital Amaurosis === | === Differentiating Joubert’s from Leber’s Congenital Amaurosis === | ||
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| ==== Etiology ==== | ==== Etiology ==== | ||
| - | * Autosomal Recessive | + | * Defects in function of primary cilia, one of the ciliopathies |
| + | * Mostly | ||
| + | * Half the cases have a mutation in only one of 4 genes: AHI1 15%, C5orf42 13%, KIAA0586 11% and CSPP1 10% | ||
| + | * at least 28 genes implicated most related to cilia formation/ | ||
| + | * | ||
| * First described in 1969, by 1991, 94 patients reported | * First described in 1969, by 1991, 94 patients reported | ||
| * More commonly reported in cultures of consanguinity, | * More commonly reported in cultures of consanguinity, | ||