Intraorbital injection of rituximab: a new approach for active thyroid-associated orbitopathy, a prospective case series.

AIM: The aim of this paper was to examine the efficacy and the safety of intraorbital administration of the monoclonal anti-CD20 antibody rituximab (RTX) to treat patients affected by thyroid-associated orbitopathy (TAO) unresponsive to conventional therapy. METHODS: Five patients with active moderately-severe TAO unresponsive to systemic glucocorticoids were studied. After a complete ophthalmological examination, disease activity and severity were assessed by the clinical activity score (CAS) and the NO SPECS scoring system. Computed tomography scans were performed in all patients. Patients were treated with intraorbital injection of RTX 10 mg once a week for one month repeated once one month apart. The patients were followed every three months until 18 months. RESULTS: In all patients treated with RTX, CAS was significantly reduced (p< 0,005), inactive phase of TAO was reached in four out of five patients. No patients experienced major side effects, minor side effects were reported in two patients. CONCLUSION: Intraorbital injection of RTX is a safe and useful promising therapeutic option for active TAO.

Longitudinal assessment of visual development in non-syndromic craniosynostosis: a 1-year pre- and post-surgical study.

OBJECTIVE: to investigate visual function pre- and post surgery in children with single-suture non-syndromic craniosynostosis DESIGN: Twenty-nine infants (12 with sagittal synostosis, 10 with trigonocephaly and 7 with anterior plagiocephaly) were longitudinally evaluated using a battery of tests assessing various aspects of visual function, including ocular behaviour, acuity, visual fields and fixation shift. All infants were assessed before surgery and 2, 6 and 12 months after surgery. RESULTS: Before surgery only 16% of infants had completely normal visual function, while on the assessment performed 12 months after surgery, the number with normal results on all the tests increased to 65%. The only abnormalities found 12 months after surgical correction were mainly found on abnormal oculomotor behaviour in infants with plagiocephaly. CONCLUSION: Abnormalities of visual function were not frequent in infants with non-syndromic craniosynostosis who underwent surgical correction. Approximately half of the patients had some visual abnormalities before surgery, which subsequently improved, showing a delayed visual maturation rather than persistent abnormalities.

Visual function in Noonan and LEOPARD syndrome.

The aim of the study was to assess various aspects of visual and visuoperceptual function in patients with Noonan syndrome (NS) or LEOPARD syndrome (LS) with mutations affecting the PTPN11, SOS1 and RAF1 genes. Twenty-four patients were assessed with a battery of tests assessing visual function including ophthalmological and orthoptic evaluation and age appropriate behavioural visual tests, including measures of crowding acuity (Cambridge crowding cards), and stereopsis (TNO test). Twenty-one subjects were also assessed with the visuo-motor integration (VMI) test. Twenty of the 24 patients (83%) had abnormalities of visual function on at least one of the tests used to assess visual function or on ophthalmological examination, and 7 of 21 (33%) also had abnormalities on VMI. Ocular movements and stereopsis were most frequently abnormal (50% and 79%, respectively). Our results suggest that visual and visuoperceptual abilities are commonly impaired in patients with Noonan and LEOPARD syndrome and they are probably related to a multifactorial etiology.

Visual function in infants with non-syndromic craniosynostosis.

The aim of this study was to assess various aspects of visual function in children with single-suture, non-syndromic craniosynostosis. Thirty-eight infants (28 males, 10 females; age range 3.5-13mo, mean age 7mo, 11 with plagiocephaly, 12 with trigonocephaly, and 15 with scaphocephaly), were assessed with a battery of tests specifically designed to assess various aspects of visual function in infancy. Thirty-two of the 38 infants had at least one abnormality on one of the aspects of visual function assessed. Abnormal eye movements were found in eight infants of the whole cohort and were mainly found in infants with plagiocephaly (6/11), who also had frequent visual field abnormalities (5/11). In contrast, fixation shift, an aspect of visual function related to the integrity of parietal lobes, was more frequently abnormal in patients with scaphocephaly. Our results suggest that the presence and severity of visual impairment is related to the type of craniosynostosis. Follow-up studies after surgical correction are needed to evaluate the possible beneficial effects of reconstructive surgery on visual function.

Growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia: confirmation of the ROCA-Wiedemann syndrome.

We report on a girl with growth and mental retardation, peculiar face with ptosis, epicanthus, broad nasal bridge, low-set and abnormal ears, cleft uvula, congenital heart defect, and anal atresia. A similar condition was reported previously by Wiedemann et al. [1982: An atlas of characteristic syndromes: a visual aid to diagnosis, 2nd ed. p 114-115]. We confirm the existence of this condition that, although similar to Ohdo syndrome, seems to be an independent clinical entity. We propose that, based on the principal clinical manifestations, this condition should be identified with the acronym ROCA (retardation of growth and development, ocular ptosis, cardiac defect, and anal atresia).

The role of ocular oscillations upon visually dependent postural stabilization in patients affected by congenital nystagmus.

Visually dependent postural stabilization decreases as a consequence of a long-standing reduction of visual cues in patients affected by congenital nystagmus. The aim of the present study was to verify whether the changes in postural control in this group of patients are due to ocular oscillations or to reduced visual acuity. Therefore, postural control was evaluated when the nystagmus was blocked by the blocking position or by prisms and compared with the postural score observed in a group of normal controls whose visual acuity had been artificially reduced to the same level as that of the patients using Bangerter's filters. The results show a statistically significant improvement of visually dependent postural stabilization when ocular oscillations are inhibited either by the gaze blocking position or by prisms. They also show that postural control in normal subjects with Bangerter's filters is reduced, but is still significantly better than that observed when ocular oscillations are inhibited in patients affected by congenital nystagmus. Our data strongly support the role of ocular oscillations in visually dependent postural control, since postural impairment recovered under any condition in which ocular oscillations were abolished, despite differences in visual acuity. Our data also show that reduced visual acuity decreases visually dependent postural control to a lesser degree than ocular oscillations. This could be due to the fact that ocular oscillations are a disturbing input, usually inhibited centrally, in order to avoid oscillopsia. This mechanism is probably responsible for the reduced role of visual cues in the postural control in this group of patients. The reduction of visual acuity, by comparison, merely causes a decrease in visual cues, depending on the degree of visual loss. It can be concluded that the impaired postural control in patients affected by congenital nystagmus is mainly due to ocular oscillations, with reduced visual acuity creating a secondary effect.

The role of vision on postural strategy evaluated in patients affected by congenital nystagmus as an experimental model.

The role of vision in postural control is crucial and is strictly related to the characteristics of the visual stimulus and to the performance of the visual system. The purpose of this investigation was to evaluate the effects of chronically reduced visual cues upon postural control in patients affected by Congenital Nystagmus (CN). These patients have developed since birth a postural strategy mainly based on vestibular and somatosensorial cues. Fifteen patients affected by CN and 15 normal controls (NC) were enrolled in the study and evaluated by means of dynamic posturography. The overall postural control in CN patients was impaired as demonstrated by the equilibrium score and by the changes of the postural strategy. This impairment was even more enhanced in CN than in NC group when somatosensorial cues were experimentally reduced. An aspecific pattern of visual impairment and a pathological composite score were also present. Our data outline that in patients affected by CN an impairment of the postural balance is present especially when the postural control relies mainly on visual cues. Moreover, a decrease in accuracy of the somatosensory cues has a proportionally greater effect on balance than it has on normal subjects.

Restrictive limitation of sursumduction caused by an anomalous muscular structure.

We report a peculiar case of congenitally restricted sursumduction caused by an anomalous band-like structure within the right orbit which was completely distinct from the extraocular muscles. Imaging (static and dynamic ultrasound studies of the orbit and globe, CT and MRI) revealed the origin of the anomalous structure in Zinn's ring, its intraconal course and bulbar insertion. The ultrasound characteristics were similar to those of the extraocular muscles and optic nerve, and contractile activity appeared to occur during eye movements. The seemingly muscular nature of this structure and its total autonomy with respect to the normal extraocular muscles distinguish this case from previously reported cases of congenital restrictive strabismus.

Four diopters prism test recording in small angle esotropia: a quantitative study using a magnetic search coil.

PURPOSE: To determine the vergence response, if any, in a homogenous group of patients suffering from strabismus and submitted to environmental induction of retinal disparity with respect to a control group of subjects. MATERIALS AND METHODS: A series of 13 subjects was included in the present study (5 normal subjects and 8 patients suffering from small angle esotropia). The patients were evaluated in an illuminated environment where they were told to stare at a target which subtended a visual angle of 20 degrees and, successively, in the dark using a luminous stimulus which subtended a visual angle of 3.5 minutes. The vergence movements were evaluated using a four diopter base-out prism; eye movements were recorded under conditions of both binocular and monocular vision. Ocular movements were recorded by means of a magnetic search coil; the amplitude and peak velocity of the vergence movements were evaluated by computer analysis. Statistical analysis was performed using the Multiple Anova test for repeated measures. RESULTS: The data obtained in the present study demonstrate that: 1) there is a significant difference between binocular and monocular vision in both groups of subjects; however, the ocular response in the patients affected by strabismus was significantly different from that in the control group of subjects; 2) during monocular vision in the dark, the response of the strabismic patients was highly variable; 3) for both groups of subjects no significant differences were observed in the vergence response when a large-angle stimulus was employed in light conditions nor when a small-angle stimulus was utilized in a dark environment.

[Surgical treatment of ptosis in cases of mitochondrial myopathies and severe myasthenia]. / Traitement chirurgical des ptosis dans les cas de myopathies mitochondriales et de myasthénie grave.

The authors describe various surgical treatments for ptosis due to mitochondrial myopathies and myasthenia gravis. Six patients out of ten underwent an anterior approach levator resection. Four out of ten were submitted to a brow suspension according to Fox's technique. Results and postoperative complications are examined and discussed.

Identification of the preferential gaze position through elevation of visual fatigue in a selected group of VDU operators. A preliminary study.

A selected group of VDU workers were tested in an attempt to achieve objective evidence of visual fatigue and to identify a preferential monitor/gaze position during a particular work setting. Each subject was scored in a two-phase test. The highest mean scores were achieved when the monitor was lowered with respect to the primary/gaze position; the scores obtained with the monitor in primary or upward gaze position were significantly lower (p < 0.001). The downward gaze position should be considered more comfortable for both innervational and anatomical factors, as stated in previous studies of ocular mobility. A reduction of vertical saccades could also play a role in lessening visual fatigue in this gaze position.

Botulinum toxin as a treatment for blepharospasm, spasmodic torticollis and hemifacial spasm.

Fifty-two patients affected by focal dystonia or hemifacial spasm were treated with repeated injections of botulinum toxin. A clinical improvement was observed in all patients with blepharospasm; clinical benefit had a mean duration of 10 weeks. Clinical results were less impressive, but also favorable in patients affected by spasmodic torticollis and by hemifacial spasm. In the latter, the incidence of drug-induced paresis was much higher than that observed in patients with blepharospasm, even though the doses of toxin injected were significantly lower.

Convergent strabismus fixus in high myopic patients.

Patients with high myopia may develop a myopathy which frequently results in a sort of convergent strabismus fixus. Echographic and CT scan findings give evidence that a myopathic paralysis of the lateral rectus is supported by a slow pressure on this muscle squeezed between the lateral orbital wall and the enlarged eyeball.

[Active alveolar expansion for prevention of postoperative atelectasis. Functional and clinical effectiveness]. / Aktive alveoläre Expansion zur Prävention der postoperativen Atelektase. Funktionelle und klinische Wirksamkeit.

In a prospective study, the functional and clinical effectiveness of active alveolar expansion was tested by means of an incentive spirometer on 30 patients each of a treatment and control group. All patients (average age 61 and 58 years, respectively) had undergone a transabdominal pelvic artery reconstruction. Pre-operatively active alveolar expansion significantly reduced intrapulmonary right to left shunting from 11.1% to 4.2% of cardiac output (P less than 0.01). Correspondingly, right to left shunting on the second to fifth postoperative day was reduced significantly (P less than 0.05) by 5-10% of cardiac output in the treatment group, cardiac output being significantly (P less than 0.05) reduced by 1 l/min average. Clinically and radiologically there was a definite reduction in pulmonary complications from 40% to 13%. Peri-operatively performed active alveolar expansion is thus an effective method for the reduction of postoperative functional atelectasis and pulmonary complications.