optic nerve hypoplasia/ataxia

We report a case of bilateral optic nerve hypoplasia in a patient with pupillary light-near dissociation, spastic paraparesis with deep hyperreflexia, mild distal hypotrophy especially of lower limbs, bilateral pes cavus and signs of motor peripheral neuropathy. Other associated signs were

Two adult sisters have vermian hypoplasia, ataxia, nystagmus, pontine divergence insufficiency, and mild to moderate intellectual disability, with an arrest of cerebral myelination resembling the pattern of a 4-month-old infant. Other abnormalities include high myopia, optic nerve hypoplasia,

Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures,

Cerebellar hypoplasia and slowly progressive ophthalmological symptoms are common features in patients with congenital disorders of glycosylation type I. In a group of patients with congenital disorders of glycosylation type I with unknown aetiology, we have previously described a distinct phenotype