Purpose
Provide an update on various features of idiopathic intracranial hypertension.
Design
Perspective.
Methods
Selected articles on the epidemiology, clinical and imaging features, natural history, pathophysiology, and treatment of idiopathic intracranial hypertension were reviewed and interpreted in the context of the authors’ clinical and research experience.
Results
Idiopathic intracranial hypertension is primarily a disease of obese women of childbearing age, but it can affect patients of any weight, sex, and age. Although a relatively rare disorder, idiopathic intracranial hypertension’s associated costs in the U.S. entail hundreds of millions of dollars. Even following treatment, headaches are frequently persistent and may require the continued involvement of a neurologist. Quality of life reductions and depression are common among idiopathic intracranial hypertension patients. However, visual dysfunction, especially visual field abnormalities, represents the major morbidity of this disorder, and serial automated perimetry remains the primary mode of patient monitoring. Patients who are men, black, very obese, or anemic are at higher risk of visual loss. Vitamin A metabolism, adipose tissue as an actively secreting endocrine tissue, and cerebral venous abnormalities are areas of active study regarding idiopathic intracranial hypertension’s pathophysiology. Treatment studies show that lumbar puncture is a valuable treatment (in addition to its crucial diagnostic role) and that weight management is critical. However, open questions remain regarding the efficacy of acetazolamide, CSF diversion procedures, and cerebral venous stenting.
Conclusions
Many questions remain unanswered about idiopathic intracranial hypertension. Ongoing studies, especially an ongoing NIH-funded clinical trial of acetazolamide, should provide more insight into this important, yet poorly understood syndrome of isolated intracranial hypertension.
Purpose: To evaluate the outcomes of 360-degree suture trabeculotomy in childhood glaucoma with poor prognosis.
Subjects and Methods: A nonrandomized, retrospective chart review was performed on pediatric patients (under 18 years old) treated with a 360-degree suture trabeculotomy for glaucoma. The cases were categorized into the following groups: (1) primary congenital glaucoma with birth-onset presentation accompanied by corneal clouding noted at birth, (2) primary congenital glaucoma with onset or presentation after 1 year of age, (3) primary congenital glaucoma with prior failed goniotomy surgery, (4) infantile-onset glaucoma following congenital cataract surgery, and (5) infantile-onset glaucoma with associated ocular/systemic anomalies.
Results: A total of 45 eyes of 33 patients were analyzed. The mean preoperative intraocular pressure (IOP) was 34.3 ± 6.7 mm Hg on an average of 1.5 medications. Median age at time of surgery was 7 months. Mean final IOP (median last follow-up or failure, 12 months) was 22.2 ± 7.1 mm Hg on an average of 1.5 medications. The probability of success according to time after surgery was 87% at 6 months, 63% at 1 year, and 58% at 2 years. Kaplan-Meier analysis of Groups 1-4 versus Group 5 failed to demonstrate a statistically significant difference (p = 0.13). Of 5 eyes with port wine mark–related glaucoma, 2 had a large (>50%), persistent postoperative hyphema and concurrent vitreous hemorrhage.
Conclusions: Children with a wide range of ocular pathologies can be successfully treated with 360-degree suture trabeculotomy. Further evaluation of this surgical technique in primary congenital glaucoma and open-angle glaucoma following congenital cataract surgery is warranted.
Introduction
Expert interpretation of modern noninvasive neuroimaging such as CTA or MRA should detect nearly all aneurysms responsible for an isolated third nerve palsy. Whether a catheter angiogram should still be obtained in cases with negative CTA or MRA remains debated, and mostly relies on whether the noninvasive study was correctly performed and interpreted. The aim of our study was to review the diagnostic strategies used to evaluate patients with isolated aneurysmal third nerve palsy at a large academic center.
Methods
Retrospective review of all cases with posterior communicating artery (PCom A) aneurysmal third nerve palsies seen at our institution since 2001.
Results
We identified 417 cases with third nerve palsy, aneurysm, or subarachnoid hemorrhage, among which 17 presented with an acute isolated painful third nerve palsy related to an ipsilateral PCom A aneurysm (mean age 52; range 33–83 years). Patients were classified into 3 groups based on the results of the noninvasive imaging obtained at initial presentation. Group I included 4 cases with subarachnoid hemorrhage on initial non-contrast head CT initially obtained in an emergency department for evaluation of their isolated third nerve palsy. Group II included 5 cases with isolated third nerve palsy and normal non-contrast head CT at presentation, immediately correctly diagnosed with a PCom A aneurysm at the referring institution. Group III included the 8 remaining cases who all had aneurysms that were missed on noninvasive studies at outside institutions. Review of these outside studies at our institution showed a PCom A aneurysm, confirming misinterpretation of these tests by the outside radiologists, rather than inadequate technique. Absence of specific training in neuroradiology and inaccurate clinical information provided to the interpreting radiologist were associated with test misinterpretation at the outside institutions. The average size of PCom A aneurysms causing an isolated third nerve palsy across all 3 groups was 7.3 mm, and was similar in each group.
Conclusion
Our study suggests that aside from an accurate history, the training and experience of the interpreting radiologist is probably the most important factor in determining the reliability of a noninvasive scan in patients with isolated third nerve palsies.
A 49-year-old man was evaluated for rapidly enlarging left lower eyelid and left neck masses. Biopsies of the masses showed diffuse large B-cell lymphoma (DLBCL). He tested positive for Human Immunodeficiency Virus (HIV). The patient was treated with chemotherapy and antiretroviral therapy, and the masses reduced in size.
Background: Blinding trachoma is targeted for elimination by 2020 using the SAFE strategy (Surgery, Antibiotics, Facial cleanliness, and Environmental improvements). Annual mass drug administration (MDA) with azithromycin is a cornerstone of this strategy. If baseline prevalence of clinical signs of trachomatous inflammation – follicular among 1-9 year-olds (TF1-9) is ≥10% but <30%, the World Health Organization guidelines are for at least 3 annual MDAs; if ≥30%, 5. We assessed the likelihood of achieving the global elimination target of TF1-9 <5% at 3 and 5 year evaluations using program reports.
Methodology/Principal Findings: We used the International Trachoma Initiative’s prevalence and treatment database. Of 283 cross-sectional survey pairs with baseline and follow-up data, MDA was conducted in 170 districts. Linear and logistic regression modeling was applied to these to investigate the effect of MDA on baseline prevalence. Reduction to <5% was less likely, though not impossible, at higher baseline TF1-9 prevalences. Increased number of annual MDAs, as well as no skipped MDAs, were significant predictors of reduced TF1-9 at follow-up. The probability of achieving the <5% target was <50% for areas with ≥30% TF1-9 prevalence at baseline, even with 7 or more continuous annual MDAs.
Conclusions: Number of annual MDAs alone appears insufficient to predict program progress; more information on the effects of baseline prevalence, coverage, and underlying environmental and hygienic conditions is needed. Programs should not skip MDAs, and at prevalences >30%, 7 or more annual MDAs may be required to achieve the target. There are five years left before the 2020 deadline to eliminate blinding trachoma. Low endemic settings are poised to succeed in their elimination goals. However, newly-identified high prevalence districts warrant immediate inclusion in the global program. Intensified application of the SAFE strategy is needed in order to guarantee blinding trachoma elimination by 2020.
Purpose
To analyze mitochondrial DNA (mt DNA) gene mutations in a 19-year-old female patient, who presented with chronic progressive external ophthalmoplegia (CPEO), together with her mother and younger sister.
Methods
The diagnosis of mitochondrial myopathy was made based on clinical and biologic analysis. Histochemical methods were used to detect ragged-red fibers (RRFs) and ragged-blue fibers (RBFs) on a muscle biopsy of the patient. All mitochondrial gene DNA fragments of the patient, her mother, and younger sister were amplified by polymerase chain reaction. The products were sequenced and compared with reference databases.
Results
A novel T1658C mutation and a known A10006G mutation were identified in the mitochondrial tRNAVal gene and the tRNAGly gene, respectively, in the patient, her mother, and younger sister. The T1658C mutation changes the T loop structure of mitochondrial tRNAVal and the A10006G mutation disturbs the D loop of mitochondrial tRNAGly.
Conclusions
The T1658C and A10006G mutations of mtDNA may be responsible for the pathogenesis of the patient with CPEO.
In the mammalian retina, dopamine binding to the dopamine D4 receptor affects a light-sensitive pool of cyclic AMP by negatively coupling to the type 1 adenylyl cyclase. The type 1 adenylyl cyclase is the primary enzyme controlling cyclic AMP production in dark-adapted photoreceptors. A previous study demonstrated that expression of the gene encoding the type 1 adenylyl cyclase, Adcy1, is down regulated in mice lacking Drd4, the gene encoding the dopamine D4 receptor. The present investigation provides evidence that dopamine D4 receptor activation entrains the circadian rhythm of Adcy1 mRNA expression. Diurnal and circadian rhythms of Drd4 and Adcy1 mRNA levels were observed in wild type mouse retina. Also, rhythms in the Ca2+-stimulated adenylyl cyclase activity and cyclic AMP levels were observed. However, these rhythmic activities were damped or undetectable in mice lacking the dopamine D4 receptor. Pharmacologically activating the dopamine D4 receptor 4 hrs before its normal stimulation at light onset in the morning advances the phase of the Adcy1 mRNA expression pattern. These data demonstrate that stimulating the dopamine D4 receptor is essential in maintaining the normal rhythmic production of the type 1 adenylyl cyclase from transcript to enzyme activity. Thus, dopamine/dopamine D4 receptor signaling is a novel zeitgeber that entrains the rhythm of Adcy1 expression and, consequently, modulates the rhythmic synthesis of cyclic AMP in mouse retina.
Purpose: To report spontaneous corneal clearing with improved visual acuity and central endothelial cell repopulation after Descemet’s stripping without endothelial replacement.
Design: Interventional case report.
Methods: A 34 year-old female with bilateral decreased vision secondary to corneal edema from endothelial dysfunction underwent Descemet’s stripping endothelial keratoplasty (DSEK) in the right eye and Descemet’s stripping (DS) only in her contralateral eye. Histopathologic evaluation confirmed a dual diagnosis of Fuchs endothelial dystrophy (Fuchs) and posterior polymorphous membrane dystrophy (PPMD) from Descemet’s membrane specimens removed from each eye. Following primary graft failure with regraft in the right eye, the second posterior corneal lenticule detached, was removed and was not replaced. The cornea cleared and central endothelial cell repopulation was documented by confocal microscopy. Therefore, Descemet’s stripping without endothelial replacement was performed in the left eye. The left cornea also cleared with central endothelial cell repopulation.
Main Outcome Measures: Postoperative visual acuity and central endothelial cell repopulation
Results: Endothelial migration after Descemet’s stripping alone in the second eye, with probably host endothelial cell repopulation in the right eye.
Conclusions: Endothelial cell migration after Descemet’s stripping procedure without insertion of endothelial graft can occur, resulting in host endothelial cell repopulation with corneal clearing and improved visual acuity.
Objective: Non-mydriatic fundus photography by non-ophthalmic trained personnel has recently been shown to be a potential alternative to direct ophthalmoscopy in the emergency department (ED). We evaluated the reliability of a novel quality rating scale and applied this scale to non-mydriatic fundus photographs taken during routine ED patient encounters to determine factors associated with diminished photograph quality.
Design: Prospective, cross-sectional
Participants: 350 patients enrolled in the Fundus photography vs. Ophthalmoscopy Trials Outcomes in the Emergency Department (FOTO-ED) study were photographed by nurse practitioners after <30 minutes of training followed by supervision.
Methods: Photographs of both eyes were graded for quality on two occasions by two neuro-ophthalmologists. Four regions were independently evaluated for quality: optic disc, macula, superior and inferior vascular arcades. Quality as a function of the number of photographs taken was evaluated by Kaplan-Meier analysis. Mixed effects ordinal logistic regression was used to evaluate for predictors of image quality while accounting for the repeated measures design.
Main Outcome Measure: Overall photographic quality (1–5 scale, 5 best).
Results: We evaluated 1734 photographs. Inter- and intra-observer agreements between neuro-ophthalmologists were very good (weighted kappa:0.84–0.87). Quality of the optic disc area was better than those of other retinal areas (p<0.002). Kaplan-Meier analysis showed that if a high-quality photograph of an eye was not obtained by the third attempt it was unlikely that one would be obtained at all. A 10 second increase in the inter-photograph interval before a total of forty seconds increased the odds of a one unit higher quality rating by 1.81 times (95%CI: 1.68–1.98), and a ten year increase in age decreased the odds by 0.76 times (95%CI: 0.69–0.85). Black patients had 0.42 times (95%CI: 0.28–0.63) the odds of a one unit higher quality rating compared to whites.
Conclusions: Our 5-point scale is a reliable measure of non-mydriatic photograph quality. The region of interest, interphotograph interval, age, and race are significant predictors of image quality for non-mydriatic photographs taken by nurse practitioners in the ED. Addressing these factors may have a direct impact on the successful implementation of non-mydriatic fundus photography into the ED.
by
Christopher K. Hwang;
Thomas M. Aaberg, Jr.;
Patricia Chevez-Barrios;
Elizabeth Verner-Cole;
Dan S. Gombos;
Evelyn Paysse;
Murali Chintagumpala;
WeiQing Gao;
Hans Grossniklaus
Over the past decade, chemoreduction has become the treatment of choice for the initial management of retinoblastoma. Yet despite its established use, chemoreduction has not been able to treat diffuse infiltrating retinoblastoma, the least common subtype of retinoblastoma. Herein we report two cases in which residual intraretinal retinoblastoma exhibiting flat and diffuse infiltration was found on pathological exam after a chemoreduction failure. The chemoreduction reduced some of the tumor and unmasked the intraretinal component.