Luisa Pinello

Nonorganic (psychogenic) visual loss in children: a retrospective series.

Background: Few studies provide follow-up information or systematic investigation of prognostic parameters of nonorganic (psychogenic) visual loss in children. Methods: A retrospective case series analysis was performed on 58 patients younger than 16 years old who had nonorganic visual loss and underwent at least a 3-month follow-up clinic visit and/or telephone interview between 1992 and 2007 at a single institution in Italy. All patients underwent a full neurologic, ophthalmologic, and orthoptic evaluation. Visual electrophysiologic tests were performed in many patients as part of the evaluation. Neuroimaging was performed and psychiatric referral was made only as needed. We collected data on the age at onset, time to diagnosis of nonorganic visual loss, type and duration of visual symptoms, and concomitant psychologic or psychosocial difficulties. Results: Visual deficits consisted mostly of reduced visual acuity (76%) and visual field defects (48%). The diagnosis of nonorganic visual loss could be reached with confidence by means of observing inconsistent performance on a wide array of visual function tests, and, in doubtful cases, by means of electrophysiologic investigations. The mean time from onset to diagnosis was 3.1 months. The mean duration of visual symptoms from reported onset to disappearance was 7.4 months. Complete resolution of all visual symptoms occurred in 93% of patients and did so within 12 months of diagnosis in 85% of patients. There was no correlation between the duration of visual symptoms and age at onset, sex, time to diagnosis, type of ocular symptoms, or presence of psychosocial or psychologic difficulties. Conclusions: Our study extends the follow-up information and confirms the findings of previous investigators in showing that nonorganic visual loss in children generally resolves spontaneously within 1 year and that no major psychiatric disorders are present or will appear after diagnosis. However, psychosocial stressors are often present and may predispose to this manifestation. There are no obvious predictors of rate of recovery.

The Role of Visual Electrophysiology in Mucopolysaccharidoses

Visual electrophysiological techniques represent excellent means for assessing retinal, optic pathways and visual cortex function. Electroretinograms, visual evoked potentials, and clinical records of 17 patients with mucopolysaccharidosis registered in the neurophysiological database of our institution were reviewed retrospectively. Ten patients were on enzyme replacement therapy, 2 underwent bone marrow transplantation, one also keratoplasty. Changes in the electroretinogram pointed to the diagnosis of retinal dystrophy type rod-cone in 8 patients. In patients in whom severe corneal clouding precluded fundus oculi inspection and at an early stage before typical fundus appearance diagnosis was possible only using the electroretinogram. Visual evoked potentials were useful to confirm the loss of visual function in patients difficult to test clinically. The authors suggest the use of electroretinogram and visual evoked potentials primarily as research tools to describe the natural history and ophthalmologic outcome in mucopolysaccharidoses, although they may have clinical utility in very selected cases.

Application of (lamellar) keratoplasty and limbal stem cell transplantation for corneal clouding in the mucopolysaccharidoses – a review

Corneal clouding or opacification is a prominent feature of mucopolysaccharidosis (MPS), particularly in MPS I and VI. In patients with marked corneal clouding and visual impairment, penetrating keratoplasty may be considered to improve the patients vision, functional capacity and quality of life. In MPS, glycosaminoglycans mainly accumulate in the corneal stroma and not in Descemets membrane or the endothelium, therefore deep anterior lamellar keratoplasty (DALK) may be preferred in these patients over penetrating keratoplasty. Although there are only limited data on the use of DALK in MPS (I and VI) patients, the results are generally favourable. Nonetheless, when deciding on whether to perform keratoplasty in patients with MPS, the risk of general anaesthesia due to potential concomitant cardio‐pulmonary problems and cervical spine instability, the potential presence of other ocular manifestations that also impair vision (e.g. glaucoma, retinal degeneration and optic atrophy) and/or complications such as allograft rejection and the risk of re‐opacification of the graft, all need to be taken into consideration. Limbal stem cell transplantation, which can be combined with keratoplasty, also holds potential promise in the treatment of these complex cases. A review of the indications, local and systemic risks, techniques of lamellar and penetrating keratoplasty, and the potential of limbal stem cell transplantation is provided in the context of corneal opacity in MPS.

Illusory Contours over Pathological Retinal Scotomas

Our visual percepts are not fully determined by physical stimulus inputs. Thus, in visual illusions such as the Kanizsa figure, inducers presented at the corners allow one to perceive the bounding contours of the figure in the absence of luminance-defined borders. We examined the discrimination of the curvature of these illusory contours that pass across retinal scotomas caused by macular degeneration. In contrast with previous studies with normal-sighted subjects that showed no perception of these illusory contours in the region of physiological scotomas at the optic nerve head, we demonstrated perfect discrimination of the curvature of the illusory contours over the pathological retinal scotoma. The illusion occurred despite the large scar around the macular lesion, strongly reducing discrimination of whether the inducer openings were acute or obtuse and suggesting that the coarse information in the inducers (low spatial frequency) sufficed. The result that subjective contours can pass through the pathological retinal scotoma suggests that the visual cortex, despite the loss of bottom-up input, can use low-spatial frequency information from the inducers to form a neural representation of new complex geometrical shapes inside the scotoma.

Serious Games to Support Cognitive Development in Children with Cerebral Visual Impairment

Cerebral Visual Impairment (CVI) is a disability that entails a visual deficit, due to a brain damage. Children affected by this disability are not able to see an object if it is not moving. In this paper, we present a study on the use of serious games in the assessment and rehabilitation of children with CVI. Our serious games help them keeping focused on the exercise by using touch interface, game paradigm and cartoon characters. The paper reports lesson learned from data collected in a user study to highlight the high potential of using these games also in the rehabilitation process. For this reason, we develop the games also in the mobile platforms to allow children to train their skills at home, i.e., more intensively and in a familiar environment.

Assessing the Visual Function in Congenital Aniridia and Following the Child During Daily Life

Congenital aniridia frequently causes severe visual impairment that is usually evident early in life. A precocious management of ocular complications is essential to prevent or limit low vision in these children. For planning rehabilitation treatment a complete opthalmological examination includes a careful visual assessment, using tests appropriate for the child’s age and ability to cooperate. Measurement of visual acuity is challenging in children, especially in infants or in patients with mental retardation (WAGR or Gillespie Syndrome). In such patients visual acuity can be evaluated with preferential looking test (Teller Acuity Cards). Starting from the 3 years of age, visual acuity can be evaluated with ETDRS charts. Management of children with aniridia and low vision is problematic: glare, reduced distance vision, reduced near vision due to foveal hypoplasia, fatigue, accommodation spasms, blurry vision, difficulty in distinguishing colors, anomalous head posture (compensatory positioning), nystagmus and the absence of stereopsis. The aim of rehabilitation is to improve visual performance though the correction of refractive errors, specific strategies and low vision aids, to reduce or relieve symptoms (glare, photophobia), and to promote learning, communication and daily living safety skills, and to foster social and scholastic participation and the child’s development and overall well-being.

D-Dimer Evaluation of Hemorrhagic Orbital Lymphangioma

An 8-year-old boy with recurrent acute bleeding of lymphangioma of the left orbit is described. D-dimer levels increased as the size of the mass became stable, showing the effect of fibrinolysis within the hemorrhagic mass after clotting. D-dimer levels confirmed the possible use of conservative management of this lymphangioma.

The lot of shaken baby syndrome (SBS) cases: Follow-up of visual outcome and congnitive function

Purpose To study long-term outcome of SBS on visual and cognitive functions. Methods Case series of 10 children (7 M, 3 F) with confirmed SBS has been examined and followed-up. All chldren underwent a fundus evaluation by indirect ophtalmoscopy and wide-field digital ophtalmic camera (RetCam II) in the acute phase and until retinal hemorrhage resorption. The assessment was repeated at follow-up combined with ocular motility evaluation, visual field (BEFIE test), visual acuity by preferential looking tecnique (teller acuity cards), refractometry, cognitive-behavioural evaluations (Griffiths scales, Child Behaviour Check List), and family stress measurement (Parenting Stress Index). Results Mean age at acute episode of SBS: 6 months (range 2-20). Mean age at last follow-up evaluation: 27.6 months (range 4.5-41). At last follow-up evaluation: 1 out of 6 had a decreased visual acuity (cortical visual impairment), 3 out of 6 had mild-severe visual field deficits, 3 out of 6 has strabismus. None of the cases showed significant refractive errors. Due to age or severity of impairment and delay in global development, in any of the cases we were able to perform a recognition acuity test by symbols or E-charts. Cognitive and behavioural assessment demonstrated global delay and impaiments in speech/language development and attention problems. Conclusion SBS is characterized by severe long-term sequelae both in visual and cognitive function. Several visual impairments are observed, mainly related to cortial injury of visuo-spatial area. Although follow-up is difficult due to family history, there is strong indication for global assessment until scholar age where other impairments are demonstrated.