Septo-optic dysplasia in childhood: the neurological, cognitive and neuro-ophthalmological perspective.

AIM: We set out to describe 17 patients with septo-optic dysplasia (SOD), focusing on the little-explored neurological, cognitive, and neuro-ophthalmological components. A further aim was to identify possible clinical correlations and phenotypic characteristics within the diagnostic spectrum. METHOD: We collected clinical-instrumental data (from the history, general and neurological examination, developmental assessment, and neuro-ophthalmological, neuroradiological, neurophysiological, and endocrinological evaluations) on nine males and eight females (mean age 34.4mo, SD 31.6; range 4mo-9y 6mo) diagnosed with SOD who were referred to our Centre of Child Neuro-ophthalmology between 1999 and 2010. RESULTS: We observed a heterogeneous clinical spectrum characterized by nervous system, visual, and endocrine dysfunctions; optic nerve involvement was present in all 17 children, midline brain defects in 14, and cortical developmental malformations in seven. Developmental/cognitive delay and relational and communication difficulties were observed in eight and seven children, respectively, and reduced visual acuity and oculomotor dysfunction were observed in all. Pituitary hormone deficiencies were present in nine children. INTERPRETATION: Nervous system involvement emerged as a key feature of SOD. As part of a holistic approach to the disease, particular attention should be paid to this aspect. The emergence of new clinical correlations and correlations between clinical features and three SOD subtypes opens the way for better clarification of this disease and, therefore, more targeted diagnosis, follow-up, and care of affected children.

Neuro-ophthalmological disorders in cerebral palsy: ophthalmological, oculomotor, and visual aspects.

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 4 y 6 mo, SD 3 y 5 mo; range 3 mo-15 y) 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.

Spectrum of visual disorders in children with cerebral visual impairment.

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.