Poretti–Boltshauser syndrome (PTBHS) is a rare neuro-ophthalmologic disease (OMIM #615960) caused by mutations in the laminin subunit alpha-1 (LAMA1) gene and has an autosomal recessive pattern of inheritance [1, 2]. This evidence concerns the gene LAMA1 and ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome.