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PubMed1996

Midbrain tegmental lesions affecting or sparing the pupillary fibres.

Two patients with oculomotor palsy caused by midbrain infarction are reported. In the first, pupillary reaction was affected and in the second this reaction was spared. Because the lesions in the anterior part of the tegmentum were in the upper midbrain in the first patient and in the lower midbrain in the second, it is suggested that the pupillary components of the oculomotor nerve are located in the upper midbrain.

Aged↗
PubMed1999

Pupil abnormality in amyloidosis with autonomic neuropathy.

Darkness pupil diameters, light reflexes, and redilatation times have been recorded with infrared TV pupillometry in 12 consecutive patients with systemic amyloidosis associated with sensory motor and autonomic neuropathy. Nine of the patients had AL amyloidosis, two had familial amyloidosis associated with a transthyretin abnormality, and one was untyped. The pupils were abnormal in all 12 patients. On the basis of redilatation lag without pupillotonia, six patients had bilateral Horner's syndrome and in one of them amyloid deposits were found in a sympathetic ganglion and in the attached sympathetic chain obtained at necropsy. Four patients had bilateral tonic pupils with light-near dissociation and two had abnormally small pupils with reduced light reactions which could not be characterised. It seems that in patients with systemic amyloidosis generalised autonomic neuropathy is strongly associated with pupil abnormality as shown by tonic reactions with light-near dissociation, by redilatation lag, or by reduced size in darkness.

Adult↗
PubMed2001

Fixed and dilated pupils after trauma, stroke, and previous intracranial surgery: management and outcome.

OBJECTIVES: To clarify whether different causative events (trauma, stroke, intracranial surgery), time of intervention, and treatment mode influence outcome, patients with fixed and dilated pupils (FDPs) in a prospective neurosurgical series were evaluated. METHODS: Ninety nine consecutive patients who presented with or developed one or two FDPs, were split into three groups according to the respective aetiology: 46 patients had a trauma, 41 patients a stroke (subarachnoid or intracerebral haemorrhage), and 12 patients had undergone previous elective intracranial surgery. Appropriate therapy was performed depending on the CT findings. Outcome was classified according to the Glasgow outcome scale (GOS). RESULTS: Overall mortality was 75%. In 15% outcome was unfavourable (GOS 2 and 3), and in 10% favourable (GOS 4, 5) at 24 month follow up. No differences in outcome were found between trauma, stroke, and postelective surgery groups. Unilaterally FDP was associated with a better chance of survival (46% v 13%; p<0.01). Age did not correlate with survival, but younger survivors had a significantly better outcome. Patients in whom an intracranial mass was removed surgically had a 42% survival rate, compared with 8% with conservative treatment (p<0.01). Patients with a shorter delay from FDPs to intervention had a better chance of recovery after trauma and previous intracranial surgery (p<0.05). No patient survived better than a vegetative state, if previous FDPs did not become reactive shortly after therapy. If both pupils became reactive on therapy, the chance of survival was 62%. Of these survivors 42% had a favourable outcome. CONCLUSION: Bilateral restoration of pupillary reactivity shortly after therapy is crucial for survival. Surgical evacuation of an intracranial mass, unilateral FDPs, early intervention, and younger age are related to better chances of survival or recovery. The prognosis of patients with FDPs after trauma, stroke, and previous elective intracranial surgery is similar.

Adolescent↗
PubMed2002

Raeder's syndrome [corrected]: paratrigeminal paralysis of the oculopupillary sympathetic system.

Raeder described five patients with mixed features of trigeminal nerve pathology and oculosympathetic impairment, with or without other cranial nerve lesions. This constellation of clinical features drew the original author's attention to the paratrigeminal region as a likely site for the causative lesion in this syndrome. An analysis of the anatomy of the oculosympathetic innervation supports the view that a restricted lesion in the middle cranial fossa might cause the syndrome of trigeminal nerve involvement, neuralgic pain or sensory change, with ptosis or miosis, or both, but no anhidrosis. Such a paratrigeminal oculosympathetic syndrome (POSS) usefully reminds clinicians to pursue vigorously possible lesions of the middle cranial fossa with careful, and possibly repeated, imaging studies. Attaching the eponym Raeder's syndrome or Raeder's paratrigeminal neuralgia to this syndrome adds nothing valuable to the anatomical description (POSS), which might be preferred for clarity.

Adolescent↗
PubMed2002

Tubular aggregate myopathy with abnormal pupils and skeletal deformities.

A patient is described with a novel syndrome characterised by progressive muscular weakness, contractures, pupillary muscle dysfunction, and skeletal deformity. The main myopathological feature was an abundance of tubular aggregates in both type I and type II muscle fibres. Myopathies in which tubular aggregates are the defining feature are rare and either present with progressive muscle weakness or exercise induced myalgia. Tubular aggregate myopathy with symptomatic smooth muscle dysfunction and skeletal deformities has not been described before.

Abnormalities, Multiple↗
PubMed1998

Autonomic neuropathy: diagnosis and impact on health in adolescents with diabetes.

Symptomatic autonomic neuropathy and abnormal cardiovascular autonomic tests are associated with increased mortality due to vascular disease and increased risk of sudden deaths. Intensive therapy in the DCCT caused a significant risk reduction of developing autonomic nerve abnormalities at five years only in the Primary Prevention Group (4 vs. 9%). At the Royal Alexandra Hospital for Children, the prevalence of cardiovascular reflex abnormalities is 28%. Over 5 years, we have found no increase in the rate of single cardiovascular abnormalities and a low rate of persistence. Two or more abnormalities developed in 5%. Repeated measures of pupillary function showed a significant increase in abnormalities and a higher level of persistently abnormal tests. Spectral analysis and 24-hour BP monitoring may detect autonomic dysfunction at earlier stages but longitudinal studies are not yet available.

Adolescent↗
PubMedDate not supplied

Phacoemulsification and intraocular lens implantation for angle closure glaucoma after the relief of pupillary block.

PURPOSE: We studied the surgical outcomes of phacoemulsification and intraocular lens (IOL) implantation for cataract and/or uncontrolled intraocular pressure (IOP) in eyes with angle closure glaucoma. SETTING: Department of Ophthalmology, National Nagasaki Medical Center, Nagasaki, Japan. METHODS: Eighteen eyes from 15 patients after laser iridotomy (17 eyes) or peripheral iridectomy (1 eye) had undergone surgery and were studied. We used an iris retractor in 7 eyes due to insufficient mydriasis and a capsular tension ring in 2 eyes due to phacodonesis during the operation. The patients were followed up for at least 6 months (13.8 +/- 7.2 months; range: 6-36 months). RESULTS: The mean IOP significantly decreased from 17.4 +/- 8.1 to 13.5 +/- 3.3 mm Hg at 6 months after surgery. The IOP was below 21 mm Hg in all eyes. The visual acuity was not worsened in any eyes and became better than 2 Snellen lines in 14 eyes. The corneal endothelial cell count decreased from 2,365 +/- 517 to 1,960 +/- 661/mm2 (18.3 +/- 17.2%). CONCLUSIONS: Phacoemulsification and IOL implantation is useful in IOP control for angle closure glaucoma after relief of pupillary block. However, we should take care of operative complications because of a shallow anterior chamber, poor mydriasis and zonular weakness.

Aged↗
PubMed2004

Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome?

We report on 2 children with moyamoya angiopathy and bilateral dolichoectatic internal carotid arteries in combination with iris hypoplasia with bilateral fixed dilated pupils and a history of patent ductus arteriosus. Both were symptomatic with moyamoya angiopathy and underwent bilateral extracranial-intracranial (EC-IC) bypass operations for cerebral revascularization. This is the first report on moyamoya angiopathy and bilateral dolichoectatic internal carotid arteries with simultaneous occurrence of ocular and cardiovascular malformations. There have been descriptions of cerebral vascular abnormalities in combination with either congenital heart disease or ocular abnormalities but not with both presenting together. The combination of these separate congenital developmental defects may not be purely coincidental: we propose that the 2 probands are affected with a not yet recognized clinical syndrome of probably genetic etiology.

Carotid Artery, Internal↗
PubMed2004

Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis.

PURPOSE: To determine the impairment of the transient pupillary light reflex (TPLR) due to severe retinal dysfunction and degeneration in a murine model of Leber congenital amaurosis (LCA) and in patients with the disease. METHODS: Direct TPLR was elicited in anesthetized, dark-adapted Rpe65(-/-) and control mice with full-field light stimuli (0.1 second duration) of increasing intensities (-6.6 to +2.3 log scot-cd. m(-2)). 9-cis-Retinal was administered orally to a subset of Rpe65(-/-) mice, and TPLR was recorded 48 hours after the treatment. TPLR was also measured in a group of patients with LCA. RESULTS: Baseline pupillary diameters in Rpe65(-/-) and control mice were similar. TPLR thresholds of Rpe65(-/-) mice were elevated by 5 log units compared with those of control animals. The waveform of the TPLR in Rpe65(-/-) mice was similar to that evoked by 4.8-log-unit dimmer stimuli in control mice. Treatment of Rpe65(-/-) mice with 9-cis-retinal lowered the TPLR threshold by 2.1 log units. Patients with LCA had baseline pupillary diameters similar to normal, but the TPLR was abnormal, with thresholds elevated by 3 to more than 6 log units. When adjusted to the elevation of TPLR threshold, pupillary constriction kinetics in most patients were similar to those in normal subjects. CONCLUSIONS: Pupillometry was used to quantify visual impairment and to probe transmission of retinal signals to higher nervous centers in a murine model of LCA and in patients with LCA. Mouse results were consistent with a dominant role of image-forming photoreceptors driving the early phase of the TPLR when elicited by short-duration stimuli. The objective and noninvasive nature of the TPLR measurement, and the observed post-treatment change toward normal in the animal model supports the notion that this may be a useful outcome measure in future therapeutic trials of LCA.

Adolescent↗
PubMed1994

Idiopathic hypothalamic dysfunction with dilated unresponsive pupils: report of two cases.

Idiopathic hypothalamic dysfunction is a rare but well-defined entity in childhood characterized by adipsia-hypernatremia, obesity, poor thermoregulation, and disturbance of pituitary function. Two cases of idiopathic hypothalamic dysfunction are described. There are 10 previously reported cases in the literature, and the clinical features are compared. The present cases are unique in that the patients also had bilaterally dilated unresponsive pupils. In the first case, there was no demonstrable pathology at autopsy; in the second case, lymphocytic infiltration of the hypothalamus and midbrain associated with neuronal loss was present at autopsy. Possible etiologies are discussed.

Autopsy↗
PubMedDate not supplied

Factors influencing anatomic and visual results in primary scleral buckling.

PURPOSE: To identify the factors influencing anatomical and visual results in cases of rhegmatogenous retinal detachment undergoing primary scleral buckling. METHODS: A retrospective study of 233 eyes of 226 patients was done. The data were evaluated by univariate analysis and stepwise logistic regression analysis. RESULTS: Retinal reattachment was achieved with primary scleral buckling in 197 eyes (84.5%). The extent of retinal detachment, preoperative proliferative vitreoretinopathy (PVR), preoperative visual acuity and relative afferent pupillary defects were identified as influencing anatomical results, by univariate analysis. The predictive roles of extent of retinal detachment (P<0.0001) and preoperative PVR (P=0.0085) were shown to be significant by step-wise logistic regression. As well as the above factors, the patient's age, the duration of symptoms and the status of the macula were predictors of visual results, by univariate analysis. Stepwise logistic regression analysis confirmed the predictive roles of preoperative visual acuity (P<0.0001) and the extent of retinal detachment (P=0.0089). CONCLUSIONS: Cases with a larger extent of retinal detachment, more advanced preoperative PVR and poorer preoperative visual acuity have less favorable anatomical and functional results.

Adolescent↗
PubMedDate not supplied

Ophthalmologic findings in fifteen patients with Wolfram syndrome.

PURPOSE: To look for ophthalmologic abnormalities in 15 patients with Wolfram syndrome, also known as DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). METHODS: Fifteen patients from four inbred families diagnosed as having Wolfram syndrome at the National Center for Diabetes, Endocrinology and Genetics, in Amman, Jordan, were evaluated ophthalmologically. Their examination included best-corrected visual acuity, color vision testing, pupillary light reflexes, slit-lamp biomicroscopy and fundus examination. Fundus fluorescein angiography was done in all patients. RESULTS: The prevalence of optic atrophy was (93.3%), colordefect (92.9%), cataract (66.6%), pigmentary retinopathy (30%) and diabetic retinopathy (20%). Abnormal pupillary light reflexes and nystagmus were also reported. CONCLUSIONS: Although ourgroup of patients was genetically heterogeneous, the ophthalmic findings are consistent with those reported in other series, except for cataract which was highly prevalent but mild and did not contribute significantly to loss of vision.

Adolescent↗