Cerebral visual impairment is a visual function deficit caused by damage to the retrogeniculate visual pathways in the absence of any major ocular disease. It is the main visual deficit in children in the developed world. Preperinatal hypoxic-ischemic damage is the most frequent cause of cerebral visual impairment, but the etiology is variable. The authors set out to evaluate the presence of visual disorders not attributable to any major ocular pathology in a sample of children with central nervous system disease and to describe the clinical picture of cerebral visual impairment in this cohort. One hundred twenty-one patients with central nervous system damage and visual impairment underwent a protocol developed at the authors' center that included neurologic, neurophthalmologic, and neuroradiologic assessments (brain magnetic resonance imaging). Reduced visual acuity was found in 105 of 121 patients, reduced contrast sensitivity in 58, abnormal optokinetic nystagmus in 88, and visual field deficit in 7. Fixation was altered in 58 patients, smooth pursuit in 95, and saccadic movements in 41. Strabismus was present in 88 patients, and abnormal ocular movements were found in 43 patients. Of the 27 patients in whom they could be assessed, visual-perceptual abilities were found to be impaired in 24. Fundus oculi abnormalities and refractive errors were frequently associated findings. This study confirms that the clinical expression of cerebral visual impairment can be variable and that, in addition to already well-documented symptoms (such as reduced visual acuity, visual field deficits, reduced contrast sensitivity), the clinical picture can also be characterized by oculomotor or visual-cognitive disorders. Cerebral visual impairment is often associated with ophthalmologic abnormalities, and these should be carefully sought. Early and careful assessment, taking into account both the neurophthalmologic and the ophthalmologic aspects, is essential for a correct diagnosis and the development of personalized rehabilitation programs.

Aim  Cerebral visual impairment (CVI) is a disorder caused by damage to the retrogeniculate visual pathways. Cerebral palsy (CP) and CVI share a common origin: 60 to 70% of children with CP also have CVI. We set out to describe visual dysfunction in children with CP. A further aim was to establish whether different types of CP are associated with different patterns of visual involvement.Methods  A total of 129 patients (54 females, 75 males; mean age 4y 6mo, SD 3y 5mo; range 3mo–15y) with CP (51 with diplegia, 61 with tetraplegia, and 17 with hemiplegia; 62 [48%] of participants were able to walk) and CVI enrolled at the Centre of Child Neuro‐ophthalmology (at the Department of Child Neurology and Psychiatry, IRCCS ‘C. Mondino Institute of Neurology’, University of Pavia) underwent an assessment protocol including neurological examination, developmental and/or cognitive assessment, neuro‐ophthalmological evaluation including ophthalmological assessment, evaluation of visual acuity, contrast sensitivity, optokinetic nystagmus, visual field and stereopsis, and neuroradiological investigations.Results  Visual dysfunction in diplegia was characterized mainly by refractive errors (75% of patients), strabismus (90%), abnormal saccadic movements (86%), and reduced visual acuity (82%). The participants with hemiplegia showed strabismus (71%) and refractive errors (88%); oculomotor involvement was less frequent (59%). This group had the largest percentage of patients with altered visual field (64%). Children with tetraplegia showed a severe neuro‐ophthalmological profile, characterized by ocular abnormalities (98%), oculomotor dysfunction (100%), and reduced visual acuity (98%).Interpretation  Neuro‐ophthalmological disorders are one of the main symptoms in CP. Each clinical type of CP is associated with a distinct neuro‐ophthalmological profile. Early and careful neuro‐ophthalmological assessment of children with CP is essential for an accurate diagnosis and for personalized rehabilitation.

Objective: To perform an updated characterization of the neuroradiologic features of Aicardi-Goutières syndrome (AGS). Methods: The neuroradiologic data of 121 subjects with AGS were collected. The CT and MRI data were analyzed with a systematic approach. Moreover, we evaluated if an association exists between the neuroradiologic findings, clinical features, and genotype. Results: Brain calcifications were present in 110 subjects (90.9%). Severe calcification was associated with TREX1 mutations and early age at onset. Cerebral atrophy was documented in 111 subjects (91.8%). Leukoencephalopathy was present in 120 children (99.2%), with 3 main patterns: frontotemporal, diffuse, and periventricular. White matter rarefaction was found in 54 subjects (50.0%), strongly associated with mutations in TREX1 and an early age at onset. Other novel radiologic features were identified: deep white matter cysts, associated with TREX1 mutations, and delayed myelination, associated with RNASEH2B mutations and early age at onset. Conclusions: We demonstrate that the AGS neuroradiologic phenotype is expanding by adding new patterns and findings to the classic criteria. The heterogeneity of neuroradiologic patterns is partly explained by the timing of the disease onset and reflects the complexity of the pathogenic mechanisms.

Aicardi–Goutières syndrome (AGS) is an autosomal recessive encephalopathy characterized by acquired microcephaly, cerebral calcifications, leukodystrophy, cerebral atrophy and cerebrospinal fluid findings of chronic lymphocytosis and raised interferon-alpha (INF-alpha). The main extraneurological symptoms are chilblain-like skin lesions, usually on the fingers, toes and ears. This review is based on a search of the published literature on AGS from 1984 onwards (particularly the most recent papers) and on knowledge and experience gained through the authors' work with the International Aicardi-Goutières Syndrome Association (IAGSA). It is accepted that AGS can be mistaken for a congenital infection and that the diagnostic significance of its cardinal signs (raised INF-alpha levels, basal ganglia calcifications) is different in different stages of the disease. Currently, we know of four genes that, if mutated, can give rise to AGS, but at least one other gene is believed to exist. These genes are involved in the DNA damage response, a defect of which could provoke an inappropriate innate immune response, triggering increased secretion of INF-alpha, ultimately responsible for the main features of the disease. The natural history of AGS has not yet been definitively described given the lack of extensive, long-term neuroradiological follow-up studies. Furthermore, it is not yet clearly understood how the innate immune system is activated, what triggers the onset of the disease or why it tends to ‘burn out’ after several months. Immunosuppressive therapy in the active stage of the disease does not seem to produce any real change in the clinical course, but more data are needed. Current studies aim to clarify the molecular mechanisms underlying the pathogenesis of AGS and to establish the exact pathway by which retained nucleic acids activate the immune system. This knowledge could allow the development of therapeutic strategies.