The inter-relationships between cerebral visual impairment, autism and intellectual disability

International audienceFrom birth, vision guides our movement, facilitates social interaction and accords recognition and understanding of the environment. In children, vision underpins development of these skills, and is crucial for typical development. Deficits in visual processing may lead to impairment of cognitive, motor, and social development, placing children at risk of developing features of autism. Severe early onset visual dysfunction accords the greatest risk. Cerebral Visual Impairment (CVI) can lead to disorders of cognitive and social development that resemble Autism Spectrum Disorder (ASD). Similarly, children who appear primarily affected by cognitive and social developmental disorders, can manifest a range of visual and perceptual deficits that may be contributory to their disorder. This dual perspective highlights the need for links between impaired vision and neurodevelopmental disorders to be identified and acted upon by means of applying appropriate social and educational strategies. There is good evidence to show that targeted systematic screening for visual and perceptual impairments, and implementation of long-term management approaches, is now required for all at risk children

Negative ERGs in mucopolysaccharidoses (MPS) Hurler-Scheie (I-H/S) and Hurler (I-H)-syndromes

The configuration and progression of the ERG in two children with mucopolysaccharidosis (MPS) I H/S (Hurler–Scheie syndrome) and MPS I H (Hurler syndrome) is described. Physical examination, biochemical analysis, ophthalmic examination and electroretinography were performed. The Hurler–Scheie patient (case 1) showed negative scotopic but normal photopic ERGs, which remained unchanged over 2 years. The Hurler patient (case 2) showed negative scotopic and photopic ERGs which did not alter after bone marrow transplantation (BMT). One year after BMT, further b-wave amplitude reduction had caused the ERGs to become more negative. The electronegative configuration of the ERGs suggests that, in these cases of MPS, the primary retinal abnormality in MPS I may be faulty synaptic transmission from photoreceptors to more proximal elements, deficient bipolar responsivity, or Muller cell disease. Further degradation with time suggests the defect to be progressive with BMT causing little or no improvement. In the Hurler–Scheie syndrome case, the defect appears to spare the cone system and to show little or no progression

Penetration of topical and subconjunctival corticosteroids into human aqueous humour and its therapeutic significance

Topical and subconjunctival corticosteroids are some of the most effective and compelling treatment options in ocular inflammatory diseases. A systematic review of literature indexed by Ovid MEDLINE & EMBASE was performed up to December 2008. There are few studies on their aqueous penetration in human subjects. This review article discusses the penetration of different ocular corticosteroids into human aqueous humour along with the therapeutic implications on management of ocular surface diseases, immune-related corneal diseases, anterior uveitis and postoperative anti-inflammatory use. In the context of the paucity of well-constructed, prospective clinical trials comparing the efficacy of different corticosteroids, it provides guiding principles for the use of topical corticosteroids. Dexamethasone alcohol 0.1% and prednisolone acetate 1% are potent corticosteroids, but the latter achieves the highest aqueous concentration within 2 h and maintains higher levels for 24 h. Subconjunctival corticosteroids provide very high concentrations in the aqueous which maintain higher concentrations for longer periods

Encephalitis and retinochoroiditis in a murine model of congenital toxoplasmosis

Paper presented as part proceedings of the 67th meeting of the British Neuropathological society held at the university of Sheffield on the 12th and 13th July 198

Binasal visual field defects are not specific to vigabatrin

This study investigated the visual defects associated with the antiepileptic drug vigabatrin (VGB). Two hundred four people with epilepsy were grouped on the basis of antiepileptic drug therapy (current, previous, or no exposure to VGB). Groups were matched with respect to age, gender, and seizure frequency. All patients underwent objective assessment of electrophysiological function (wide-field multifocal electroretinography) and conventional visual field testing (static perimetry). Bilateral visual field constriction was observed in 59% of patients currently taking VGB, 43% of patients who previously took VGB, and 24% of patients with no exposure to VGB. Assessment of retinal function revealed abnormal responses in 48% of current VGB users and 22% of prior VGB users, but in none of the patients without previous exposure to VGB. Bilateral visual field abnormalities are common in the treated epilepsy population, irrespective of drug history. Assessment by conventional static perimetry may neither be sufficiently sensitive nor specific to reliably identify retinal toxicity associated with VGB

Sensitivity and specificity of the step VEP in suspected functional visual acuity loss

<p>Background/aim: Early and accurate diagnosis of functional visual loss (FVL) allows optimum management. Visual evoked potentials (VEPs) offer a means of objectively estimating acuity and therefore could assist with early and accurate diagnosis. The aim of this study was to assess the sensitivity and specificity of the step VEP in diagnosing FVL.</p> <p>Methods: A retrospective audit was conducted in 36 school-aged children presenting with reduced visual acuity and clinical suspicion of FVL. All had undergone step VEP testing as part of their investigation. Medical notes were reviewed, and where necessary, referring centres, general practitioners or electronic clinical portals were consulted to obtain longer-term outcome data.</p> <p>Results: Twenty-seven of the 36 patients (75 %) were classified as having had FVL: all had a normal step VEP spatial threshold. Nine patients (25 %) had an organic cause for their acuity loss, of whom seven had abnormal step VEP spatial thresholds: the other two patients had some functional overlay to their organic disease. The step VEP sensitivity was 78 % (95 % confidence interval 40–96 %), and specificity was 100 % (95 % confidence interval 84–100 %).</p> <p>Conclusion: The high specificity of the step VEP for FVL warrants increased suspicion of an organic cause should the step VEP spatial threshold be abnormal.</p&gt

Peripheral retinal dysfunction in patients taking vigabatrin

Objective: To assess the wide-field multifocal electroretinogram (WF-mfERG) for assessment of retinal function in vigabatrin-treated patients. Methods: Thirty-two adults who had taken vigabatrin for at least 3 years for localization-related epilepsy underwent WF-mfERG, ERG, logMar visual acuity and color vision evaluation, Humphrey visual field analysis (static perimetry), and funduscopy. The group was matched with a cohort of patients who had never received vigabatrin. Results were compared with a normative data set (120 drug-free controls) with respect to potential bilateral abnormalities in response timing. Results: There were no significant differences between groups in visual acuity or color vision testing. Of the vigabatrin patients, 19 (59%) had bilateral visual field defects compared to none of the controls. Using WF-mfERG, all patients on vigabatrin with visual field defects showed abnormalities (100% sensitivity) and only 2 of the 13 patients without a field defect showed retinal abnormalities (86% specificity). Conclusions: WF-mfERG may be useful for detecting retinal pathology in patients taking vigabatrin. The majority of previous reports based on subjective testing may have underestimated the prevalence of peripheral retinal toxicity related to the drug

A selective impairment of perception of sound motion direction in peripheral space: A case study

It is still an open question if the auditory system, similar to the visual system, processes auditory motion independently from other aspects of spatial hearing, such as static location. Here, we report psychophysical data from a patient (female, 42 and 44 years old at the time of two testing sessions), who suffered a bilateral occipital infarction over 12 years earlier, and who has extensive damage in the occipital lobe bilaterally, extending into inferior posterior temporal cortex bilaterally and into right parietal cortex. We measured the patient's spatial hearing ability to discriminate static location, detect motion and perceive motion direction in both central (straight ahead), and right and left peripheral auditory space (50 degrees to the left and right of straight ahead). Compared to control subjects, the patient was impaired in her perception of direction of auditory motion in peripheral auditory space, and the deficit was more pronounced on the right side. However, there was no impairment in her perception of the direction of auditory motion in central space. Furthermore, detection of motion and discrimination of static location were normal in both central and peripheral space. The patient also performed normally in a wide battery of non-spatial audiological tests. Our data are consistent with previous neuropsychological and neuroimaging results that link posterior temporal cortex and parietal cortex with the processing of auditory motion. Most importantly, however, our data break new ground by suggesting a division of auditory motion processing in terms of speed and direction and in terms of central and peripheral space