Keywords: High myopia; autosomal recessive disorder; Poretti-Boltshauser syndrome; retinal dystrophy; cerebellar cysts EN High myopia autosomal recessive disorder Poretti-Boltshauser syndrome retinal dystrophy cerebellar cysts 653 657 5 09/29/22 20221001 NES 221001 Introduction Poretti-Boltshauser syndrome (OMIM 150320) (PTBHS) is an autosomal recessive disorder characterized by specific cerebellar abnormalities including cerebellar dysplasia with cysts, enlarged fourth ventricle, and vermis hypoplasia. Micalizzi et al. found ocular motor apraxia in 13 out of 17 patients, strabismus in 7 out of 17 patients, and nystagmus in 5 patients ([1]). High myopia and vitreal veils in a patient with Poretti- Boltshauser syndrome due to a novel homozygous LAMA1 mutation The patient presented with high myopia and vitreous veils, phenotype usually seen in the vitreo-retinopathies such as Stickler and Wagner syndrome, indicating the role of I LAMA1 i (laminin alpha-1) in the development of these structures. [Extracted from the article]