Ophthalmological findings in Joubert syndrome
Sturm V et al. - The association of optic disc drusen with JS has not yet been described. In support of the earlier findings, decreased smooth pursuit and VOR cancellation, as well as partial-to-complete oculomotor apraxia seem to be the key oculomotor features of JS. Genotype–phenotype correlations showed the predictive value of CEP290and AHI1mutations for retinal involvement. [more...]
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