Iris anomalies and the incidence of ACTA2 mutation.

BACKGROUND: Central cysts of the iris pigment epithelium, or iris flocculi, are frequently reported in the literature in association with thoracic aortic aneurysm and dissection due to smooth muscle alpha-actin 2 (ACTA2) mutations. Children with ACTA2 mutations may also present with congenital mydriasis. We report our experience regarding the frequency of ACTA2 mutation in children with the above iris anomalies. METHODS: This is a retrospective, consecutive case series of all children presenting for iris flocculi or congenital mydriasis at a single tertiary centre from October 2012 to December 2016. RESULTS: 13 children with iris flocculi and 3 with congenital mydriasis presented during the study period. 10 children with iris flocculi completed genetic testing, and none were positive for ACTA2 mutation. All children with congenital mydriasis presented with a multisystem smooth muscle dysfunction syndrome; two of these three children tested positive for missense R179 ACTA2 mutations. CONCLUSIONS: In this series, ACTA2 mutation or copy number variation was not detected in children presenting for iris flocculi, whereas congenital mydriasis was associated with R179 mutation in both cases that tested positive for ACTA2 mutation. The case of congenital mydriasis without typical cardiac features of the R179 ACTA2 phenotype or intracranial vasculopathy was negative for ACTA2 mutation. While all children presenting with these iris anomalies should be offered a genetic evaluation, incidence data should inform genetic counselling, particularly in the absence of a family history of aneurysm or sudden death, or systemic signs of smooth muscle dysfunction.

Iris alterations after DSAEK. / Alteraciones iridianas tras Queratoplastia endotelial automatizada con stripping de la Descemet.

OBJECTIVE: To evaluate a series of case that developed iris changes after performing Descemet's stripping automated endothelial keratoplasty (DSAEK). METHODS: Retrospective study of eyes that developed iris abnormalities, such as pupil ovalisation, iris atrophy, iridocorneal synechiae, mydriatic pupil, and pigmentary changes after performing DSAEK in a tertiary hospital. RESULTS: In a series of the first 32 DSAEK procedures performed, new single or mixed iris alterations were observed in 12 eyes (37.5%). Iris-corneal synechiae were observed in 7 eyes, corectopias in 9 eyes, iris atrophy in 3 cases, and one case developed an areflexic mydriatic pupil. Long-term pigment dispersion at the edge of the lenticule was observed in 12 eyes. The alterations occurred after three months from the surgery. In the evaluation of the associated factors, malignant glaucoma had occurred in 1 case, 2 eyes had required a second surgery, one case by re-DSAEK, and the other one by removing the intraocular lens due to lens opacification. Two cases had a shallow anterior chamber. No relationship was found between the thickness of the peripheral lenticule and the presence of synechiae. CONCLUSION: Iris changes regarding DSAEK are possible. A discussion is presented on the relationship between increased intraocular pressure due to air in anterior chamber and its relationship with ischaemia and secondary alterations in the iris.

Side of pupillary mydriasis predicts the cognitive prognosis in patients with severe traumatic brain injury.

BACKGROUND: Pupils' abnormalities are associated to bad prognosis in traumatic brain injury. We investigated the association between the side of pupil mydriasis and the long-term cognitive performance of patients with severe traumatic brain injury (TBI). METHODS: We analyzed the cognitive performance of patients admitted at the intensive care unit with isochoric pupils (IP, n = 28), left mydriasis (LM, n = 10), right mydriasis (RM, n = 9) evaluated in mean 2.5 years after the severe TBI and controls (n = 26) matched for age, sex and education level. RESULTS: Patients and controls had similar scores in the four WAIS-III investigated subtests. In comparison with controls, LM patients had lower scores in Letters and Category Fluency and IP patients in Category Fluency. Among the 10 evaluated memory tests, LM patients had lower scores than controls in eight, RM patients in two and IP in three memory tests. IP and RM were 3.5 to nine times more associated to significant impairment (cognitive scores under the percentile 10 of controls) in six of 16 investigated cognitive tests. LM was six to 15 times more associated to significant impairment in 10 of 16 cognitive tests. The association among the pupil abnormalities and cognitive performances remained significant after the multiple linear regression analysis controlling for age, gender, admission coma Glasgow scale and serum glucose, presence of associated trauma, and cranial computed tomography abnormalities. CONCLUSION: Side of admission pupil abnormalities may be a useful variable to improve prognostic models for long-term cognitive performance in severe TBI patients.

Benign episodic mydriasis. Experience in a specialist neuro-ophthalmology clinic of a tertiary hospital.

INTRODUCTION: Anisocorias are a relatively frequent reason for consultation in neuro-ophthalmology units. They remain a diagnostic challenge for specialists as they may be due to several etiological factors. In the absence of other accompanying symptoms, anisocorias are usually due to benign processes. Benign episodic mydriasis (BEM) is an isolated cause of intermittent pupil asymmetry, in which the pathophysiology is still not fully understood, and is predominant in young women with migraine. SUBJECTS, MATERIAL AND METHODS: We describe the epidemiological and clinical characteristics of patients with BEM, assessed in a neuro-ophthalmology unit in a tertiary hospital. RESULTS: A total of 7 patients were diagnosed with BEM, all of them females, with a mean age of 33 ± 10 yrs. The patients presented with pupil asymmetry (n = 5) and blurred vision (n = 2), and 6 of the 7 patients had unilateral involvement. The duration of impairment varied from a few minutes to 48 hrs. Four patients (57%) had a clinical history of migraine without aura. The episodes in these 4 patients were recurrent (75%), often lasted for a few minutes (75%), and had associated blurred vision (50%). The neuroimaging studies were normal. DISCUSSION: BEM appears predominantly in young women. It is frequently related to a previous history of migraine, and the specialist must consider if it is a concomitant symptom of common migraine, migraine with aura, or ophthalmoplegic migraine. Although BEM has unilateral predominance, there may be alternation of the affected eye or even bilateral impairment during the same episode, which makes us question the adequacy of the term to describe the process. Imaging tests are not recommended in the absence of other accompanying symptoms, or in short-term episodes.

Common ocular effects reported to a poison control center after systemic absorption of drugs in therapeutic and toxic doses.

PURPOSE OF REVIEW: Ocular effects resulting from medications assist toxicologists in determining substances involved when treating a poisoned patient. The intention of this review is to discuss the most common ocular effects, the medications that cause them, and the mechanisms by which they occur. RECENT FINDINGS: According to National Poison Data System, the most common reported ocular effects following a drug ingestion/injection/inhalation are mydriasis, miosis, and nystagmus. The most common drug/drug classes reported to a regional poison control center causing these ocular effects include the following: first, mydriasis - amphetamines and diphenhydramine; second, miosis - clonidine and opioids; third, nystagmus - dextromethorphan. However, many other drugs/substances can cause these effects along with other systemic effects. SUMMARY: Ocular findings are a pertinent component of any patient assessment involving therapeutic and/or toxic exposure to medications and other substances.

Quantitative analysis of iris changes after physiologic and pharmacologic mydriasis in a rural Chinese population.

PURPOSE: To estimate and compare the change in iris cross-sectional area (IA) and iris volume (IV) following physiologic and pharmacologic pupil dilation in primary angle closure suspects (PACS) and normal subjects. METHODS: Anterior segment-optical coherence tomography (AS-OCT) measurements in light, dark, and following pharmacologic dilation were obtained on 186 PACS and 224 normal subjects examined during the 5-year follow-up of the Handan Eye Study. Iris cross-sectional area, IV, and other biometric parameters calculated using the Zhongshan angle assessment program in the right eyes of all subjects were analyzed. RESULTS: The mean IA and IV decreased in dark compared with light and after pharmacologic dilation in both PACS and normal eyes. This change was statistically significant in normal eyes: light versus pharmacologic dilation for IA (P = 0.038) and for IV, both light versus dark (P = 0.031) and light versus pharmacologic dilation (P = 0.012). A longer axial length (P = 0.028) and a greater change in pupil diameter (PD) (P < 0.001) were associated with a larger decrease of IA for the light to dark comparison. A diagnosis of normal eyes (P = 0.011), larger PD in dark (P = 0.001), and a larger change in PD (P = 0.001) were associated with a larger decrease of IV from light to dark. CONCLUSIONS: The differences in iris behavior between PACS and normal rural Chinese subjects following physiologic or pharmacologic pupillary dilation may help provide insights into the pathogenesis of angle closure.

Urrets-Zavalia syndrome following penetrating keratoplasty for keratoconus.

BACKGROUND: Urrets-Zavalia syndrome (UZS) consists of a fixed dilated pupil associated with iris atrophy. It is a poorly understood complication following penetrating keratoplasty (PKP) for keratoconus (KC). In this work, we aim to establish the incidence, visual outcomes, and an understanding of UZS. METHODS: This was a retrospective single-center study in a tertiary eye service in the United Kingdom of consecutive patients with UZS following PKP for KC in a 10-year period. Post-operative complications, including raised intraocular pressure (IOP), were recorded. UZS patients and age-matched control patients who had undergone PKP for KC without developing UZS attended a comprehensive clinical assessment. Anterior segment indocyanine green (ICG) angiography assessed iris perfusion. RESULTS: The incidence of UZS was 16.2 %. There was no difference in LogMAR VA or Pelli-Robson contrast sensitivity between groups. There was higher first-day post-operative IOP in UZS (p = 0.02). UZS patients had increased pupil size (p = 0.09) with reduced response to pilocarpine 2 % (p < 0.001). ICG angiography revealed delayed/reduced iris vasculature filling in UZS compared with normal filling patterns of controls. CONCLUSIONS: Elevated post-operative IOP within 24 h was a significant factor in the development of UZS. Visual function in UZS patients was unaffected. UZS patients developed longstanding mydriasis with reduced reactivity to topical pilocarpine 2 %. ICG angiography confirmed iris vessel ischemia; supporting the theory that iris ischemia resulting from occlusion of iris root vessels due to elevated IOP causes UZS. We advocate rigorous intraoperative management of ocular viscoelastic devices and aggressive postoperative IOP control in patients undergoing PKP for KC.

[Ocular trauma. Blunt ocular trauma]. / Contusions oculaires à globe fermé

Ocular traumas represent a major public health problem with poorly understood ramifications at both the individual and community levels. Any of the ocular structures can be damaged in the case of closed globe injury. These lesions, often multiple, may appear immediately or in a delayed fashion. Classifications have been developed recently in order to better inform the patient of the visual prognosis. However, significant efforts are still needed, on the one hand, to assess and develop new therapies, and on the other hand, to implement effective policies to prevent ocular trauma.

Clinical features of 60 consecutive ICU-treated patients envenomed by Bungarus multicinctus.

In northern Vietnam, Bungarus multicinctus is the only krait of medical importance. We report 60 consecutive patients admitted to an ICU in Hanoi during 2000-2003 because of envenoming by B. multicinctus. Their mean age was 33 years (range 12-67), 77% were male. The majority were agricultural workers, 69% of the snakebites occurred during the night. The mean length of time until the first symptom developed was 3 hours (range 0.5-24 hours). The only sign at the site of the bite was fang marks, which were noted in 90%. The most common neuromuscular symptoms were ptosis and mydriasis (93%), ophthalmoplegia (82%), jaw weakness (90%), pharyngeal pain (83%), palatal palsy (90%), neck muscle paralysis (85%), limb paralysis (85%), and paralysis of the respiratory muscles (87%). No antivenom was available. Fifty-two patients (87%) needed mechanical ventilation for a mean of 8 days. The most surprising laboratory finding was a high rate of significant hyponatremia (42%). The mean duration of the ICU stay was 12 days and the hospital mortality was 7%. According to the Poisoning Severity Score criteria, 54 patients (90%) were classified as severe or lethal envenoming.

Relevancia de las nuevas técnicas de neuroimagen para la detección de aneurismas en las parálisis aisladas del III nervio craneal / Relevance of the new neuroimaging techniques for detection of aneurysms in isolated third nerve palsies

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Outcome of large hemispheric infarcts: an experience of 50 patients in Taiwan.

BACKGROUND: Large hemispheric infarcts cause high mortality and morbidity. Understanding the clinical course and prognostic factors in patients with LHI, thereby enabling the identification of patients who will benefit from early aggressive intervention, is important. This study describes the clinical course of patients who had LHI and identifies the predictors for mortality. METHODS: A retrospective collection of clinical and laboratory data in patients admitted to a neurologic intensive care unit of a medical center was examined. Large hemispheric infarct was defined as an infarct that involved at least 2 of the 3 (deep, superior, and posterior) MCA territories. Patients who received a hemicraniectomy were not included. RESULTS: Fifty patients with radiologically confirmed LHI were analyzed. The 30-day mortality rate was 22%. Only patients who had massive infarcts (complete MCA territory infarcts and beyond) died, whereas none with i-MCAs died (P < .001). For the 26 patients with massive infarcts, the 30-day mortality was 42.3%. Early deterioration, ipsilateral pupil dilation, and a low GCS were associated with mortality. Further analysis revealed that an age less than 70 years (OR 24.5, 95% CI 2.3-262.6) and a GCS less than 10 at the second day of stroke (OR 15, 95% CI 1.5-149.5) predicted a fatal outcome among patients with massive infarcts. A GCS less than 12 at the first day of stroke and early CT findings of hypodensity more than one half of the MCA territory were associated with massive infarct. CONCLUSIONS: The extent of infarction is a crucial factor for mortality. The consciousness level may identify patients at risk for massive infarct at the first day of stroke and predict a fatal outcome as early as the second day. Early identification of the extent of infarction and close monitoring of the consciousness level help predict outcome.