Paolo Emilio Bianchi

Cognitive visual dysfunctions in preterm children with periventricular leukomalacia

Aim  Cognitive visual dysfunctions (CVDs) reflect an impairment of the capacity to process visual information. The question of whether CVDs might be classifiable according to the nature and distribution of the underlying brain damage is an intriguing one in child neuropsychology.

Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature

Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate‐to‐severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects. Since the first delineation by Mowat et al. [Mowat et al. ( 1998 ); J Med Genet 35:617–623], ∼179 patients with ZEB2 mutations, deletions or cytogenetic abnormalities have been reported primarily from Europe, Australia and the United States. Genetic defects include chromosome 2q21–q23 microdeletions (or different chromosome rearrangements) in few patients, and ZEB2 mutations in most. We report on clinical and genetic data from 19 Italian patients, diagnosed within the last 5 years, including six previously published, and compare them with patients already reported. The main purpose of this review is to underline a highly consistent phenotype and to highlight the phenotypic evolution occurring with age, particularly of the facial characteristics. The prevalence of MWS is likely to be underestimated. Knowledge of the phenotypic spectrum of MWS and of its changing phenotype with age can improve the detection rate of this condition.

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.

Do adherence rates and glaucomatous visual field progression correlate

Purpose TO assess the relation between visual field progression and adherence rate in patients with glaucoma using Travatan Dosing Aid® (TDA). Methods In this 36-month retrospective study, 35 patients with primary open-angle glaucoma on travoprost or travoprost/timolol fixed combination monotherapy were submitted to ophthalmic examination and to visual field (VF) test from 2007 to 2009. Adherence was recorded with TDA. The association between VF progression (from 2007 to the end of the follow-up period) and a number of predictors (adherence rates at 12 months) was tested by means of chi-square test (or Fisher exact test) or Mann-Whitney test as appropriate. Results The mean (±SD) adherence rates were 71.9%±27.8% after 1 month of follow-up and 76.8%±20.9% at 12 months. A total of 25 (71.4%) patients with stable VF had a median adherence rate (IQR) of 85% (75%-97%); patients who worsened (n=10; 28.6%) recorded a median (IQR) adherence of 21% (9%-45%) (p<0.001). No association was found between VF progression and any of the other variables (age, sex, schooling, visual acuity, intraocular pressure (IOP) at baseline and over time, other ocular diseases, time since diagnosis and actual therapy, number of concomitant systemic therapies). Patients who were at least 90% adherent did not progress, while 43.5% of the patients with lower adherence worsened (p=0.01). Conclusions Our data suggest that adherence rate may play a role in glaucomatous damage and/or progression; the target IOP therefore should be adjusted by adherence rates. Monitoring tools, educational programs, use of videos, a better doctor-patient relationship, or other means to improve adherence are desirable and necessary to preserve visual function.

Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.

Mowat–Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and is characterized by distinctive facial features, epilepsy, moderate to severe intellectual disability, corpus callosum abnormalities and other congenital malformations. Epilepsy is considered a main manifestation of the syndrome, with a prevalence of about 70–75%. In order to delineate the electroclinical phenotype of epilepsy in MWS, we investigated epilepsy onset and evolution, including seizure types, EEG features, and response to anti‐epileptic therapies in 22 patients with genetically confirmed MWS. Onset of seizures occurred at a median age of 14.5 months (range: 1–108 months). The main seizure types were focal and atypical absence seizures. In all patients the first seizure was a focal seizure, often precipitated by fever. The semiology was variable, including hypomotor, versive, or focal clonic manifestations; frequency ranged from daily to sporadic. Focal seizures were more frequent during drowsiness and sleep. In 13 patients, atypical absence seizures appeared later in the course of the disease, usually after the age of 4 years. Epilepsy was usually quite difficult to treat: seizure freedom was achieved in nine out of the 20 treated patients. At epilepsy onset, the EEGs were normal or showed only mild slowing of background activity. During follow‐up, irregular, diffuse frontally dominant and occasionally asymmetric spike and waves discharges were seen in most patients. Sleep markedly activated these abnormalities, resulting in continuous or near‐to‐continuous spike and wave activity during slow wave sleep. Slowing of background activity and poverty of physiological sleep features were seen in most patients. Our data suggest that a distinct electroclinical phenotype, characterized by focal and atypical absence seizures, often preceded by febrile seizures, and age‐dependent EEG changes, can be recognized in most patients with MWS.

Anterior chamber measurements taken with Pentacam: An objective tool in laser iridotomy

Purpose. Laser iridotomy is the standard first-line intervention in both acute and chronic forms of angle closure because it prevents the recurrence of acute attacks and virtually eliminates the risk of an acute attack in the fellow eye. Pentacam is a new imaging modality which does not require probe contact or an immersion bath. The instrument will allow anterior segment morphology before and after laser peripheral iridotomy (LPI) to be quantified. The aim of the study is to evaluate the objective difference in changes of anterior chamber morphology after LPI with Pentacam. Methods. Twenty eyes with a high risk of angle closure were evaluated with Pentacam rotating Scheimpflug camera before and after LPI. We measured anterior chamber volume, anterior chamber depth, and chamber angle before and after laser treatment. Results. Statistically significant difference before and after LPI was noted in all anterior chamber measurements except central anterior chamber depth. Conclusions. This study confirms previous reports of increased anterior chamber volume and angle after LPI and Pentacam is a good objective instrument to demonstrate the efficacy of LPI.

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.

Leber's congenital amaurosis: is there an autistic component?

There is much evidence in the literature suggesting that children with congenital blindness can also present autistic like features. The aetiopathogenetic and clinical significance of this association is still unclear. Given the central role played by vision in development, we set out to establish the significance of autistic‐like behaviours in children with early‐onset severe visual impairment. Our sample comprised 24 children (13 males, 11 females; mean age 5y 2mo; range 2‐11y) affected by Lebers congenital amaurosis (LCA). The results of our administration of a modified Childhood Austism Rating Scale ‐ excluding item VII (Visual Responsiveness) ‐ showed that only four of the children gave an overall score indicating the presence of autism (moreover, of mild/moderate degree). Hardly any of the children in our LCA sample presented major dysfunctions in their relationships with other people or in their social and emotional responsiveness, thus allowing us to exclude a genuine comorbidity with a picture of autism. Indeed, the risk facing the visually impaired child seems to concern their early interactive experiences, which may be affected by their inability to connect with others, and may be prevented through the development of specific strategies of intervention.

Towards improved clinical characterization of Leber congenital amaurosis: neurological and systemic findings.

Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy that presents in infancy. LCA is both clinically and genetically heterogeneous. The aim of our study was to clarify the clinical aspects of LCA and to contribute to improved characterization of the disorder. We studied 40 children affected by LCA (mean age at first observation: 19 months, range: 8–50 months), who underwent a comprehensive evaluation that included: neurophthalmological evaluation, electroretinogram (ERG), and visual evoked potentials (VEPs), general and neurological examinations, developmental assessment using scales for visually impaired children, neuroradiological examinations, hepatic and renal function and metabolic investigations, brainstem auditory evoked potentials (BAEPs), EEG, and hand radiographs. Analyses of known LCA genes are ongoing. The subjects are still being followed up at 6‐/12‐month intervals. All the subjects fulfilled De Laeys criteria for LCA. The neurological examination was abnormal in 31 cases (hypotonia, ataxia with/without associated cerebellar signs). Cognitive development was normal in 24 cases, borderline in five, and subnormal in 11. Mild and nonspecific alterations on MRI were present in seven cases, and “molar tooth” sign in four; all the others had a normal neuroradiological picture. Among the subjects presenting with neurological signs, a subgroup (13 patients) emerged that was characterized by systemic (skin, kidney, liver) involvement. Our data confirm that LCA is a heterogeneous entity that can present as an isolated ocular manifestation, or in association with neurological and systemic abnormalities and support the need for a multidisciplinary approach to this entity and for genotype–phenotype studies.

Octyl 2-cyanoacrylate in sutureless surgery of extraocular muscles: an experimental study in the rabbit model.

Abstract Background: Sutureless surgery for strabismus eliminates the risk of perforating the ocular bulb in patients with extremely thin sclerae. Thus far, however, the results obtained with tissue adhesives such as the cyanoacrylates instead of sutures have been less than satisfactory. Methods: A new adhesive, octyl 2-cyanoacrylate, was tested in 36 rabbit eyes in which the superior rectus was recessed 5 mm. In 36 other eyes the same operation was performed using 5/0 Vicryl sutures. Animals were killed 1, 3, 5, 15, 30 and 45 days after surgery. One eye from each animal was used for histopathological examination of the reinserted muscle and sclera, while the other was used in a tensiometric test to measure how many grams of weight were needed to detach the muscle from its new insertion site. Results: The tensile strength of the bond achieved with the cyanoacrylate adhesive was 94±12 g 1 day after surgery (vs 238±19 g in the suture group) and 520±24 g after 45 days (vs 576±27 g with sutures). No cases of slippage, muscle detachment, or local tissue reactions were observed in either group. There were no differences in histological findings between the eyes of the two groups.Conclusions: Although further study will be necessary before this technique can be used in humans, our findings indicate that octyl 2-cyanoacrylate is superior to the cyanoacrylate adhesives used in the past in terms of adhesion and holding power; given its favorable toxicity profile, this product may offer interesting applications in the future.