Ataxia - hypogonadism - choroidal dystrophy orphanet ICD10:G11.8 Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhäuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term). OMIM:215470 Boucher-Neuhäuser syndrome Rare disorder with hypogonadotropic hypogonadism Rare hereditary ataxia