Images in clinical medicine. Regression of optociliary shunt vessels.
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Ciliary Body↗
Biomedical subjects
Nancy J Newman
Publications and source records attributed to Nancy J Newman.
Progression of visual field defects in leber hereditary optic neuropathy: experience of the LHON treatment trial.
PURPOSE: To describe the visual fields of patients with Leber hereditary optic neuropathy (LHON), a maternally inherited disorder characterized by bilateral, often sequential vision loss, before and during progressive visual deterioration. DESIGN: Prospective longitudinal follow-up of serial visual fields in patients enrolled onto an open-label, nonrandomized pilot study of topical brimonidine purite as prophylactic treatment after first eye involvement in LHON. METHODS: Nine molecularly confirmed primary mutation patients with LHON with monocular vision loss for less than six months and normal visual function in the other eye were followed prospectively for up to two years. Visual fields were performed on automated perimetry at baseline and on many follow-up visits. RESULTS: Despite normal visual acuity at baseline in all patients, seven patients had some minimal changes in the central visual field of the second eye. All patients had subsequent deterioration of visual acuity, mean deviation, and foveal sensitivity in their second eye. The earliest pattern of abnormality was typically a cecocentral defect enlarging to become a central defect, often with a superior or inferior predilection. The visual field defects in the two eyes of any given patient were remarkably similar. CONCLUSIONS: LHON may be a bilateral condition at onset more frequently than appreciated. Automated static perimetry of the "normal" eye may reveal subclinical findings that typically worsen rapidly over weeks to months to similar central scotomatous damage. Quantitative automated static perimetry is helpful in elucidating the natural history of LHON and in understanding the underlying pathology and pathophysiology of this disease.
Administration, Topical↗
Intracranial vascular anomalies in patients with morning glory disk anomaly.
PURPOSE: An association between morning glory disk anomaly (MGDA) and intracranial vascular anomalies including Moyamoya disease has been recognized. We evaluated a series of patients with MGDA to ascertain the frequency of cerebrovascular anomalies. DESIGN: Retrospective observational case series. METHODS: We reviewed the neurologic histories and neuroimaging studies of twenty patients with MGDA at two institutions between 1982 and 2004. Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) of the brain was performed on all patients who had not undergone neuroimaging. MRI/MRA studies done for 40 pediatric patients without MGDA were also evaluated for cerebrovascular anomalies. The prevalence of anomalies in the two groups was compared by Fisher exact test. RESULTS: Nine of 20 patients (45%) with MGDA had cerebrovascular anomalies. Anomalies ranged from agenesis of the A1 segment of the anterior cerebral artery to bilateral stenosis of the internal carotid arteries with moyamoya disease. Three patients underwent revascularization procedures. Ten of 40 patients (25%) in the control group had any intracranial vascular anomaly, whereas only two of 40 (5%) had an abnormality of the anterior circulation, the most common finding in the MGDA group. CONCLUSION: We recommend that all patients with MGDA undergo MRI/MRA or computerized tomographic angiography to detect vascular and structural brain anomalies. It may be unclear whether cerebrovascular anomalies represent isolated congenital anomalies or findings of progressive occlusive cerebrovascular disease. Follow-up imaging should be considered in patients with cerebrovascular anomalies and is clearly indicated if neurologic signs or symptoms are present.
Adolescent↗
Pediatric homonymous hemianopia.
INTRODUCTION: Homonymous hemianopia is a disabling condition caused by numerous lesions affecting the retrochiasmal visual pathways. Little is known about homonymous hemianopia in childhood. METHODS: All patients seen in the Neuro-Ophthalmology Unit at Emory University with homonymous hemianopia (confirmed by Goldmann, Humphrey, or confrontation visual fields) between 1989 and 2004 were included. Demographic characteristics, clinical features, and evolution of the visual field defects were compared between the pediatric group (18 years of age or younger) and the adult group (older than 18 years). RESULTS: Among 852 patients with homonymous hemianopia, there were 81 children (86 homonymous hemianopias) and 771 adults (818 homonymous hemianopias). Formal visual field testing was obtained in 93% of pediatric cases and 96% of adults; a majority of patients in both groups were evaluated with Goldmann visual field testing. Demographic and visual field characteristics were similar in both groups. Significant differences were noted for the causative lesions and their location. Traumatic brain injury (34%) and tumor (27%) were the most common causes of homonymous hemianopia in the pediatric group, whereas infarction (63%), traumatic brain injury (12%), and hemorrhage (11%) were the most common causes in the adult group. Most lesions involved the optic radiations (37%), followed by the occipital lobes (26%), in the pediatric group, whereas occipital lobes (47%), followed by optic radiations (32%), were most commonly involved in adults. Approximately one third of the pediatric patients were seen in follow-up, and one third of these homonymous hemianopias spontaneously improved over the course of time. Of the 16 pediatric homonymous hemianopias evaluated within 1 month of onset of the cerebral disorder, 8 (50%) improved. CONCLUSION: Trauma and tumors are the most common cause of homonymous hemianopia in childhood. Although spontaneous improvement can be expected in approximately one third to one half of patients within the first few months, the recognition of homonymous hemianopia frequently is delayed in this population.
Adolescent↗
The American Society of Anesthesiologists Postoperative Visual Loss Registry: analysis of 93 spine surgery cases with postoperative visual loss.
BACKGROUND: Postoperative visual loss after prone spine surgery is increasingly reported in association with ischemic optic neuropathy, but its etiology is unknown. METHODS: To describe the clinical characteristics of these patients, the authors analyzed a retrospectively collected series of 93 spine surgery cases voluntarily submitted to the American Society of Anesthesiologists Postoperative Visual Loss Registry on standardized data forms. RESULTS: Ischemic optic neuropathy was associated with 83 of 93 spine surgery cases. The mean age of the patients was 50 +/- 14 yr, and most patients were relatively healthy. Mayfield pins supported the head in 16 of 83 cases. The mean anesthetic duration was 9.8 +/- 3.1 h, and the median estimated blood loss was 2.0 l (range, 0.1-25 l). Bilateral disease was present in 55 patients, with complete visual loss in the affected eye(s) in 47. Ischemic optic neuropathy cases had significantly higher anesthetic duration, blood loss, percentage of patients in Mayfield pins, and percentage of patients with bilateral disease compared with the remaining 10 cases of visual loss diagnosed with central retinal artery occlusion (P < 0.05), suggesting they are of different etiology. CONCLUSIONS: Ischemic optic neuropathy was the most common cause of visual loss after spine surgery in the Registry, and most patients were relatively healthy. Blood loss of 1,000 ml or greater or anesthetic duration of 6 h or longer was present in 96% of these cases. For patients undergoing lengthy spine surgery in the prone position, the risk of visual loss should be considered in the preoperative discussion with patients.
Anesthesia↗
OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy.
PURPOSE: Autosomal dominant optic atrophy is a form of blindness, due in part to mutations affecting the mitochondrial-targeted OPA1 gene product. Both OPA1-positive and OPA1-negative families exhibit variable expressivity and incomplete penetrance. The purpose of this study was therefore to determine if the background mtDNA genotype acts as a genetic modifier for the expression of this disease. METHODS: To find novel pathogenic OPA1 mutations, we performed complete OPA1 gene exon sequencing in 30 patients. To assess the possibility that mitochondrial DNA haplotype acts as a genetic modifier, we determined the mitochondrial DNA haplotype in 29 Caucasian OPA1-positive and OPA1-negative patients. Deviations in haplotype distribution between patient and control groups were determined by statistical means. RESULTS: Seven new pathogenic OPA1 mutations were found. Most were detected in the mitochondrial targeting N-terminus or in the coiled-coil domain at the C-terminus. Mitochondrial DNA haplotype analysis indicated that the European haplogroup distribution was different between Caucasian patients and controls. Further, haplogroup J was three-fold over-represented in OPA1-negative patients. CONCLUSIONS: Overall, our results support haploinsufficiency as a genetic mechanism in OPA1-positive cases and also suggest that mtDNA genetic background may influence disease expression in a subset of cases.
Adolescent↗
Subretinal hemorrhage from a peripapillary choroidal neovascular membrane in papilledema caused by idiopathic intracranial hypertension.
A 42-year-old man with idiopathic intracranial hypertension and chronic papilledema had severe visual loss in his left eye caused by subretinal bleeding from a peripapillary choroidal neovascular membrane (CNVM). After optic nerve sheath fenestration in his left eye, the papilledema improved, allowing improved visualization of the CNVM. Visual function did not improve after the surgery. CNVM can complicate chronic papilledema and account for sudden worsening of vision. The appropriate management of this type of CNVM is unresolved.
Adult↗
Homonymous hemianopia in stroke.
BACKGROUND: Previous reports have suggested that most cases of homonymous hemianopia (HH) are caused by occipital stroke. However, these reports have not always been supported by brain imaging. METHODS: We reviewed the medical records of all patients seen in our unit between 1989 and 2004 who had HH documented by formal perimetry or confrontation visual fields and had undergone brain imaging. HHs were divided into those caused by stroke and by non-stroke conditions. The clinical and visual field characteristics were compared in the two groups. RESULTS: Among 850 patients with 902 HHs, 629 (69.7%) resulted from stroke, of which 531 (84.4%) were from infarction and 98 (15.6%) from primary intraparenchymal hemorrhage. Non-stroke causes included head trauma (123), brain tumor (102), neurosurgical procedures (22), multiple sclerosis (13), and miscellaneous conditions (13). Occipital lesions most commonly resulted from stroke. The configuration of the HH did not predict where in the retrochiasmal visual pathway the responsible lesion lay. CONCLUSIONS: Ischemic stroke causes most HHs from lesions in the occipital lobe that generally do not produce other neurologic manifestations. The configuration of the HH does not predict the location of the lesion within the retrochiasmal visual pathway.
Adolescent↗
The natural history of optic neuritis.
Optic neuritis is a common cause of visual loss in young patients, typically presenting with painful monocular visual loss and decreased color vision. Visual function generally spontaneously improves over weeks, and 95% of patients return to visual acuity of at least 20/40 within 12 months. The initial magnetic resonance imaging (MRI) helps stratify the risk of multiple sclerosis (MS) in patients with acute isolated optic neuritis. In the Optic Neuritis Treatment Trial, the 10-year risk of MS in the group of patients with at least one MRI T2 lesion was 56%, whereas the 10-year risk with a normal baseline MRI was 22%. A normal MRI in concert with painless optic neuritis, severe optic nerve head edema, peripapillary hemorrhages, or a macular star defines a very low MS risk subgroup. High-dose steroids hasten the rate, but not the final extent, of visual recovery in optic neuritis, and the decision to use this therapy is individualized. Interferon beta-1a therapy should be considered in selected high-risk patients.
Disease Progression↗
A trochlear stroke.
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Brain Stem Infarctions↗
The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.
Leber's hereditary optic neuropathy (LHON) causes central vision loss from bilateral optic neuropathy. Although 13 mitochondrial DNA (mtDNA) mutations are strongly associated with LHON, only three account for roughly 90% of cases and thus are found in multiple independent LHON families. The remaining LHON mutations are rare. Here, we describe the clinical and genetic characterization of a new LHON mtDNA mutation. The 12848T mutation alters a highly conserved amino acid in the ND5 complex I gene, is not found in controls, and is heteroplasmic. Despite ND5 being the largest of the mtDNA complex I genes, ND5 mutations are quite rare in LHON.
Adult↗
Voluntary alteration of full-field electroretinogram.
PURPOSE: To evaluate whether a normal subject can deliberately produce abnormal electroretinogram (ERG) results that simulate disorders of the retina. DESIGN: Prospective study. METHODS: Five normal subjects were evaluated twice with full-field ERGs. The subjects were randomly assigned to be compliant or noncompliant (i.e., to deliberately attempt to alter the test results) at each visit. Results from compliant eyes were compared with those of noncompliant eyes. RESULTS: While the amplitudes of all parameters were decreased in the noncompliant group, the difference was not statistically significant, and the results were usually within the normal limits of our laboratory. No subject was able to alter the results to mimic a retinal disease or to reproduce a specific pattern of changes. CONCLUSIONS: Although ERG results can be altered by noncompliant subjects, the results are usually only "borderline abnormal" and do not correspond to any pattern of retinal disease. These results confirm that abnormal full-field ERGs indicate true retinal disease.
Electroretinography↗
Hereditary optic neuropathies: from the mitochondria to the optic nerve.
PURPOSE: To review our current knowledge of inherited optic neuropathies. DESIGN: Perspective. METHODS: Literature review. RESULTS: The hereditary optic neuropathies consist of a group of disorders in which optic nerve dysfunction figures solely or prominently and direct inheritance is clinically or genetically proven. The most common of these disorders are autosomal dominant optic atrophy (Kjers' disease) and maternally-inherited Leber's hereditary optic neuropathy. Other inherited neurologic and systemic syndromic diseases will frequently manifest optic neuropathy. A selective vulnerability of the optic nerve to perturbations in mitochondrial function may underlie a final common pathway among these disorders. CONCLUSIONS: The ophthalmologist should be familiar with the clinical characteristics and diagnosis of the hereditary optic neuropathies. Recent advances in our understanding of the underlying pathophysiology of the inherited optic neuropathies may provide insight into their treatment and the treatment of acquired optic nerve disorders.
Humans↗
Prophylaxis for second eye involvement in leber hereditary optic neuropathy: an open-labeled, nonrandomized multicenter trial of topical brimonidine purite.
PURPOSE: To test a topical agent with purported antiapoptotic properties as prophylactic treatment after first eye involvement in Leber hereditary optic neuropathy (LHON), a maternally-inherited disorder characterized by bilateral, often sequential, visual loss. DESIGN: Open labeled, nonrandomized prospective pilot study. METHODS: Nine primary mutation molecularly confirmed LHON patients with one eye vision loss for less than 6 months and normal visual function in the fellow eye were treated with brimonidine purite 0.15% (Alphagan P) 4 times daily in the unaffected eye for up to 2 years. Visual acuity was the primary efficacy outcome. Secondary measures included changes on automated perimetry and quantification of the relative afferent pupillary defect. RESULTS: There were 8 men and 1 woman enrolled, aged 13 to 54 years (mean 32 years), eight with the 11778 mitochondrial DNA (mtDNA) mutation, and one with the 3460 mutation. Despite normal visual acuity at baseline in all patients, 7 patients had some minimal changes in the central visual field of the study eye. All patients had deterioration of vision in their second eye. In 1 of the 2 patients who had treatment initiated within 16 days after first eye involvement, good visual acuity was maintained in the study eye at 15 month followup, despite a mildly abnormal study eye baseline visual field. CONCLUSIONS: LHON may be a bilateral condition at onset more frequently than appreciated, with asymmetric severity at presentation. Topical brimonidine purite in this dosage was unsuccessful in preventing second eye involvement in recently monocularly-symptomatic LHON.
Administration, Topical↗
Erectile dysfunction drugs and nonarteritic anterior ischemic optic neuropathy.
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3',5'-Cyclic-GMP Phosphodiesterases↗
Transient monocular visual loss in two patients with impending central retinal vein occlusion.
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Adult↗
Simultaneous bilateral retinal artery occlusions associated with a mitral valve mass.
A 52-year-old woman with simultaneous bilateral retinal artery occlusions and normal trans-thoracic echocardiography was found to have a mitral valve lesion on trans-esophageal echocardiography. Bilateral retinal artery occlusions suggest a source of emboli at the level of the heart or aortic arch. Such cases should be evaluated not merely by trans-thoracic echocardiography, but by trans-esophageal echocardiography, which better visualizes the aortic arch and left heart cavities.
Calcinosis↗
Eliminating the Ant1 isoform produces a mouse with CPEO pathology but normal ocular motility.
PURPOSE: The adenine nucleotide transporter 1 gene (ANT1) encodes an inner mitochondrial membrane protein that transports ATP into the cell. Mutations within ANT1 produce a syndrome of chronic progressive external ophthalmoplegia (CPEO) in humans. Ant1 knockout (Ant1-/-) mice develop cardiomyopathy and mitochondrial myopathy of limb muscles. Because the extraocular muscles (EOM) are preferentially affected in human CPEO, the objective of this study was to determine whether Ant1-/- mice also exhibit an EOM mitochondrial myopathy. METHODS: ANT isoform expression of isolated EOMs, EOM morphology and mitochondrial content, mitochondrial structure and function, ocular motility in intact mice, and contractile performance in isolated muscle preparations were examined. RESULTS: Ant1-/- EOMs had the typical appearance of mitochondrial myopathy, including increase in mitochondrial size, number, and oxidative phosphorylation (OXPHOS) staining. However, there were no measurable ocular motor abnormalities in intact Ant1-/- mice, and their isolated EOMs did not show evidence of increased fatigability. EOMs of wild-type mice exhibited higher levels of Ant2 mRNA compared with hindlimb muscle, which may compensate for the Ant1 loss in mutant mouse EOMs and account for the normal EOM function. CONCLUSIONS: The Ant1-/- mice provide a model in which to study CPEO pathology and compensatory mechanisms.
Adenine Nucleotide Translocator 1↗