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Perinatal cortical and subcortical visual loss: mechanisms of injury and associated ophthalmologic signs.

PURPOSE: To determine whether term and preterm injuries to the retrogeniculate visual system are associated with recognizable patterns of ophthalmologic abnormalities and whether these patterns can be attributed to cortical (gray matter) or subcortical (white matter) injury. DESIGN: A retrospective case series. PARTICIPANTS: One hundred children with clinical and neuroimaging signs of perinatal posterior visual pathway injury who were examined at Arkansas Children's Hospital Eye Clinic between 1989 and 1999. METHODS: We reviewed magnetic resonance images or computed tomographic scans from 50 children with cortical (predominantly or exclusively involving cortical gray matter) and 50 children with subcortical (predominantly or exclusively involving subcortical white matter) perinatal injury to the retrogeniculate visual system. Ophthalmologic abnormalities were analyzed retrospectively in each group. MAIN OUTCOME MEASURES: Conjugate gaze deviation, type of strabismus, abnormal eye movements, and optic disc morphology. RESULTS: Horizontal conjugate gaze deviation, exotropia, and a normal optic disc appearance were significantly more common in cortical than in subcortical visual loss. Tonic downgaze, esotropia, and optic nerve hypoplasia (with or without coexisting pallor) were significantly more common in subcortical than in cortical visual loss. CONCLUSIONS: Perinatal cortical and subcortical visual loss produce differing profiles of ophthalmologic dysfunction. A reclassification of periventricular leukomalacia and other forms of retrogeniculate white matter injury as subcortical visual loss would increase diagnostic specificity.

Blindness, Cortical↗

Sleep apnea and intracranial hypertension in men.

PURPOSE: To investigate sleep apnea as an associated finding in idiopathic intracranial hypertension (IIH) in men. DESIGN: Multicenter, retrospective, noncomparative interventional case series. METHODS: Retrospective review of all men with the diagnosis of IIH seen within the last 5 years at three tertiary care academic ophthalmologic institutions. Cases with sleep apnea (SA) and IIH were identified and reviewed. RESULTS: Thirty-two cases of IIH in men were reviewed. Six cases with SA met the modified Dandy criteria for the diagnosis of IIH. Of these six patients, one received acetazolamide alone, four received acetazolamide and continuous positive airway pressure (CPAP), and one was treated with CPAP alone. All patients had preserved central acuity (20/20 or better in both eyes), enlarged blind spots, and optic disc edema in both eyes. Five patients had normal visual fields after treatment, and one patient had residual visual field loss. Three patients had normal optic nerve examinations, with resolution of the optic disc edema at last follow-up. After resolution of the optic disc edema, these three patients were maintained on CPAP but discontinued acetazolamide. Two patients had persistent but improved papilledema and are under continued treatment with acetazolamide and CPAP. One patient had optic disc pallor in both eyes and is stable. CONCLUSIONS: SA was a common finding in men meeting the modified Dandy criteria for IIH in adults. Treatment of sleep apnea with nocturnal oxygenation may improve the signs and symptoms of IIH in affected men.

Acetazolamide↗

The role of unilateral temporal artery biopsy.

PURPOSE: To examine the role of unilateral temporal artery biopsy (TAB) in suspected giant cell arteritis (GCA). DESIGN: Retrospective interventional case series. PARTICIPANTS: We identified 181 subjects from pathology and diagnostic code databases at the University of Pennsylvania Medical Center who underwent TAB between January 1990 and January 2001. METHODS: The medical records for all subjects who underwent TAB were reviewed. Follow-up information was obtained by telephone or record review for those patients who had negative unilateral TAB. MAIN OUTCOME MEASURES: Follow-up information for patients with unilateral negative TAB was reviewed for potential adverse outcomes caused by missed or delayed diagnoses of GCA. Presenting signs and symptoms and laboratory values were recorded for all subjects. Comparisons of clinical profiles between subsets of subjects were performed using Fisher's exact test, significance level alpha = 0.01. RESULTS: Follow-up information was available for 88 (86%) of 102 subjects who had unilateral negative biopsy samples. One (1%) subjects of 88 had a subsequent positive contralateral TAB; no adverse outcomes occurred for this subject or for any other subjects with unilateral negative TAB. Compared with subjects who had unilateral positive or who underwent bilateral TAB (n = 74), those who had unilateral negative TAB (n = 88) had a significantly lower prevalence of jaw claudication (P = 0.007). Compared with subjects diagnosed with GCA (n = 39), those with unilateral negative TAB (n = 88) had significantly lower frequencies of jaw claudication (P = 0.001), "chalky white" optic disc edema (P = 0.002), and fever (P < 0.0001). Compared with subjects with positive TAB (n = 33), subjects with negative TAB (n = 148) had significantly lower prevalence of jaw claudication (P < 0.0001), "chalky white" disc edema (P = 0.0002), pale disc edema (P = 0.006), or any systemic symptom other than headache (P = 0.0002). ("Chalky white" denotes notably extreme disc pallor). The most common indications for biopsy in subjects with unilateral negative TAB were elevated erythrocyte sedimentation rate (ESR) (74%), headache (69%), visual complaints (58%), and ophthalmic signs (52%). Although ESR was a significant predictor of positive TAB overall (unilateral and bilateral TAB) in logistic regression models accounting simultaneously for subject age (P = 0.04), ESR did not significantly predict unilateral negative status in our patients (P = 0.13). CONCLUSIONS: In this cohort of patients, unilateral TAB was associated with an extremely low frequency (1%) of subsequent positive contralateral TAB and was not associated with adverse visual or neurologic outcomes for any subject. We conclude that in the hands of experienced physicians, a unilateral TAB is sufficient to exclude a diagnosis of GCA in populations for which clinical suspicion is low. Jaw claudication, pale optic disc edema, particularly "chalky white" disc edema, fever, or any systemic symptom other than headache should raise suspicion for a diagnosis of GCA.

Biopsy↗

Bilateral posterior ischemic optic neuropathy after lumbar spine surgery.

PURPOSE: To report a case of bilateral posterior ischemic optic neuropathy (PION) in a healthy young patient after lumbar spine surgery which was initially diagnosed as functional visual loss. DESIGN: Observational case report. PARTICIPANT: A 33-year-old woman who experienced visual loss in the immediate postoperative period after a lumbar spine fusion. TESTING: Serial visual field testing and fundus examinations, ERG. RESULTS: Bilateral PION was confirmed 2 months postoperatively with the development of bilateral optic disc pallor and a normal ERG. CONCLUSION: Young patients without vascular risk factors may develop bilateral PION after otherwise uncomplicated lumbar spine surgery. In subjects complaining of visual loss in the postoperative period who have a normal fundus and normal neuroimaging, a diagnosis of PION should be suspected, and close follow-up is warranted.

Adult↗

Bilateral retinal artery and choriocapillaris occlusion following the injection of long-acting corticosteroid suspensions in combination with other drugs: I. Clinical studies.

Two well-documented cases of bilateral retinal artery and choriocapillaris occlusions with blindness following head and neck soft-tissue injection with methylprednisolone acetate in combination with lidocaine, epinephrine, or penicillin are reported. One case had only a unilateral injection. The acute observations included hazy sensorium, superior gaze palsy, pupillary abnormalities, and conjunctival hemorrhages with edema. Follow-up changes showed marked visual loss, constricted visual fields, optic nerve pallor, vascular attenuation, and chorioretinal atrophy. The literature is reviewed, and possible causes are discussed.

Adult↗

Dominant retinitis pigmentosa. A clinicopathologic correlation.

Autopsy and clinical studies were performed in a family with dominantly inherited retinitis pigmentosa. The eyes of two senior members of the family were obtained for histopathologic study, while three other family members were studied clinically. All family members studied had visual field loss, nyctalopia, and a spectrum of pigmentary disruption. There was variable expressivity of pigmentary migration, foveal atrophic changes, surface wrinkling retinopathy, choriocapillaris atrophy, drusen, vitreous synchysis, and optic pallor. Three specific zones of retinal and retinal pigment epithelial changes were identified histopathologically. A clinicopathologic correlation is presented.

Adolescent↗

Increased pressure of dilated episcleral veins with open-angle glaucoma without exophthalmos.

Six unilateral cases and one bilateral case of dilated episcleral veins with elevated intraocular pressure without exophthalmos are described. Episcleral venous pressure measured on six unilateral cases showed increased pressure in the affected eye compared to the other eye and to normal controls. Two eyes had typical glaucomatous disc and visual field changes. Five had more optic disc cupping and pallor in the eye with the elevated episcleral venous pressure and intraocular pressure. A thorough work-up, including orbital venography in two unilateral cases, carotid arteriography in one and episcleral fluorescein angiography in five cases, failed to show venous obstruction or direct arterio-venous communications. The different diagnoses are discussed. This condition should be considered in unilateral or asymmetrical intraocular pressure elevation and in those patients with chronically red eyes without discharge.

Aged↗

Dominantly inherited retinitis pigmentosa. Ultrastructure and biochemical analysis.

A 66-year-old white man had dominant retinitis pigmentosa. He developed progressive restriction of his visual field, night blindness, pallor of the optic discs, pigmentary retinopathy and posterior subcapsular cataracts. Postmortem examination of the eyes included electron microscopy and biochemical analysis of cyclic nucleotides and interphotoreceptor retinoid-binding protein (IRBP). Except for the fovea and periphery, the retina showed extensive gliosis and neuronal loss with loss of photoreceptor cells. The choriocapillaris was variably occluded in the regions of absent retinal pigment epithelium (RPE). In places, the pigment epithelium invaded the retina to the level of the internal limiting membrane. Biochemical analysis revealed that the interphotoreceptor retinoid-binding protein (IRBP), an important glycoprotein of the interphotoreceptor space, was virtually absent even in retinal areas where photoreceptor cells were still present. Cyclic nucleotide determinations indicated a decrease in the cyclic GMP concentration that reflected the general loss of photoreceptor elements. On the other hand the cyclic AMP levels in all retinal areas tested were abnormally elevated, indicating the possible involvement of this nucleotide in the pathogenesis of the disease.

Aged↗

Antiviral therapy with ganciclovir for cytomegalovirus retinitis and bilateral exudative retinal detachments in an immunocompromised child.

A child with bilateral cytomegalovirus (CMV) retinitis, vitritis, and exudative retinal detachments, who was in remission from stage IV neuroblastoma and status post-chemotherapy and autologous bone marrow transplantation, was treated with ganciclovir. The drug is a new acyclic nucleoside antiviral drug with potent antiCMV activity. There was bilateral retinal reattachment, clearing of vitritis and regression of retinal exudates and hemorrhages, with concomitant resolution of viral shedding in urine and blood, on ganciclovir 7.5 mg/kg per day. There was recurrence of exudative detachments, vitritis and retinitis when the dose was reduced to 2.5 mg/kg per day, and regression of these findings when the dose was again increased to 7.5 mg/kg per day. Despite continued therapy at this dose, a relapse occurred. When the dose of drug was doubled to 15 mg/kg per day, there initially was a partial therapeutic response, followed by a subsequent relapse. No further response was seen when the dose was increased to 19.5 mg/kg per day. This patient was treated with ganciclovir for a total of 192 days. No adverse reactions to ganciclovir were seen. On the last day of drug administration, there were persistent bilateral exudative retinal detachments and progressive optic nerve head involvement with optic disc pallor, despite quiescence of the retinitis.

Acyclovir↗

Fundus lesions in malignant hypertension. V. Hypertensive optic neuropathy.

We produced experimental renovascular arterial hypertension in 57 rhesus monkeys by modified Goldblatt's procedures. Hypertensive fundus changes were studied in detail by serial ophthalmoscopy and fluorescein fundus angiography in all animals on a long-term follow-up, and pathologically in 23 eyes. Initial evidence of hypertensive optic neuropathy was optic disc edema which developed at the median blood pressure (BP) of 190 mmHg (normal BP, 120 mmHg). On follow-up, mild to marked pallor of the optic disc developed. The optic disc changes were correlated with BP and other fundus changes. Pathogenesis of hypertensive optic neuropathy, which has been highly controversial so far, is discussed at length in the light of the findings of the present study and other recent evidence. All the available clinical and pathologic findings in the present study indicate that hypertensive optic neuropathy represents a form of anterior ischemic optic neuropathy, and that hypertensive optic neuropathy is a distinct entity. A caution is given against a precipitous reduction of BP in patients with hypertensive optic neuropathy because that may cause complete, permanent blindness.

Animals↗

Ophthalmologic manifestations of X-linked childhood adrenoleukodystrophy.

The ophthalmologic findings in 15 patients with childhood adrenoleukodystrophy (ALD) are reviewed. In this X-linked demyelinating disease with adrenal dysfunction, relentlessly progressive visual loss followed by optic atrophy occurs months to years after the diagnosis is established based on neurologic symptoms and biochemical abnormalities. Visual loss is mainly due to central nervous system (CNS) demyelination involving the visual tracts, but primary retinal ganglion cell degeneration may also be operative. All patients in this study were male. Vision ranged from 20/20 to no light perception (NLP). All but one patient with bilateral cataracts had normal anterior segment examinations. Seven patients had exotropia, and esotropia developed in one patient. Electroretinography (ERG) and electrooculography (EOG) findings were normal in two patients with severe visual loss. Macular pigmentary changes were observed in three patients. Optic pallor was noticed in seven patients. Optic nerve hypoplasia was seen in one patient. Visual-evoked responses were abnormal in two patients and borderline in one. Progressive visual field abnormalities were noticed in three patients, large field cuts in two patients, and normal fields in another two patients. The diagnosis of ALD should be considered in all boys presenting with unexplained visual loss, dementia, and adrenal dysfunction.

Adolescent↗

Bilateral optic nerve compression as a mechanism for the Foster Kennedy syndrome.

An 11-year-old boy with a juvenile nasopharyngeal angiofibroma developed optic disc pallor in one eye and optic disc edema in the other eye (Foster Kennedy Syndrome [FKS]). The mechanism was believed to be bilateral, asymmetric optic nerve compression. Review of the 36 previously reported cases of FKS revealed that 12 cases (33%) were probably also caused by bilateral optic nerve compression. Only eight (22%) of the cases satisfied Foster Kennedy's original hypothesis for the pathogenesis of his syndrome, namely, direct compression of one optic nerve causing atrophy and increased intracranial pressure causing contralateral papilledema. In 15 (41%) reported cases of FKS, descriptions were inadequate to determine a mechanism, while two (5%) were probably caused by long-standing increased intracranial pressure without direct optic nerve compression. The authors believe that as sophisticated imaging permits earlier diagnosis and more precise localization, most future cases of FKS caused by mass lesions will be found to result from bilateral direct optic nerve compression.

Child↗

Optic neuropathy and central nervous system disease secondary to Sjögren's syndrome in a child.

The authors describe a 10-year-old girl in whom optic neuropathy and central nervous system (CNS) disease developed in association with primary Sjögren's syndrome. There was angiographic evidence of cerebral vasculitis and multiple infarcts present on neuroimaging. Results of parotid biopsy, cerebrospinal fluid, and serologic analyses showed abnormalities that were consistent with the diagnosis of Sjögren's syndrome. Although the patient had optic disc pallor on initial evaluation, her color vision and acuity improved with immunosuppressive therapy, as did her other neurologic symptoms. The authors believe this represents the first reported case of optic neuropathy and CNS disease associated with primary Sjögren's syndrome in the pediatric population. The possibility of improvement in visual function with early institution of immunosuppressive therapy makes prompt diagnosis essential.

Brain Diseases↗

Protracted posttraumatic optic disc swelling.

BACKGROUND: Optic disc swelling is a rare sequela of blunt ocular trauma. METHODS: The authors examined three young patients who had an unusual post-traumatic optic neuropathy in which protracted swelling of the optic nerve head was the salient clinical feature. RESULTS: Associated choroidal ruptures in two patients suggested a contrecoup mechanism of injury to the optic nerve at its junction with the globe. All patients had partial recovery of vision over months, concurrent with resolution of the nerve head swelling and development of optic disc pallor. CONCLUSION: Despite its protracted course, posttraumatic optic disc swelling appears to be associated with a favorable prognosis for visual recovery.

Adolescent↗

Visual field defects after macular hole surgery. A new finding.

PURPOSE: The purpose of the study is to report the problem of a temporal visual field defect occurring after macular hole surgery. METHODS: The authors reviewed the records of 13 patients found to have visual field defects after vitrectomy for macular holes. Fluorescein angiograms (13 patients), optic nerve photographs (13 patients), focal electroretinograms (3 patients), and nerve fiber analyses (8 patients) were performed in patients with visual field defects. RESULTS: An absolute, temporal, usually inferior field defect was noted in 13 patients. In eight patients, the defect was detected because of specific reports or retrospective field examination results. Five patients examined in a prospective manner were found to have field defects. No history of abnormal intraocular pressure or direct trauma to the optic nerve or retinal vessels was identified. Four patients showed optic nerve pallor and three had an anomalous-appearing disc. Focal electroretinograms were of similar amplitude in the involved retina compared to corresponding areas in the healthy fellow eye. Nerve fiber analysis showed a reduction in nerve fiber layer thickness correlating to the visual field defect in those eight patients in which this test was used. CONCLUSION: A significant temporal field defect may occur in patients after otherwise uncomplicated surgery for macular holes. The cause is unclear; however, reductions in nerve fiber layer thickness from the superior and nasal peripapillary area suggest that acute surgical release of the posterior hyaloid and the use of long-acting intraocular gas may in certain patients result in visual field defects.

Aged↗

Retinopathy and optic neuropathy in bone marrow transplantation for breast cancer.

PURPOSE: To characterize the ocular toxicity of a bone marrow transplant regimen does not include total body or focal head irradiation. METHODS: Nine patients with advanced breast cancer were referred for visual symptoms after high-dose chemotherapy with cisplatin, cyclophosphamide, and carmustine and autologous bone marrow transplantation without total body irradiation or local head irradiation. RESULTS: Symptoms consistent with optic neuropathy and retinopathy developed in five patients. Retinopathy alone developed in three patients and optic neuropathy alone developed in one. Retinal abnormalities included cotton-wool spots, intraretinal hemorrhages, and macular exudate. Optic nerve findings included disk swelling and subsequent pallor. Symptoms and signs associated with retinopathy were generally reversible, whereas those associated with optic neuropathy often were permanent. Retinopathy and/or optic neuropathy developed in all of the patients from 1 to 5 months after bone marrow transplantation. Resolution or stabilization of findings was observed 2-4 months after presentation. Two patients with optic neuropathy showed progression of field and acuity loss after 4 months. When compared with control subjects, the exposure of patients to cyclophosphamide and carmustine was no different. However, cisplatin exposure was 1.2-fold higher in patients with ocular toxicity compared with control subjects. CONCLUSION: Optic neuropathy and retinopathy are presumed to arise from the administration of a high-dose chemotherapy regimen. As techniques in supportive care improve, long-term adverse effects of these therapies now are becoming apparent.

Adult↗

Bartonella henselae neuroretinitis in cat scratch disease. Diagnosis, management, and sequelae.

OBJECTIVE: This study aimed to report the long-term outcomes of patients treated with an antibiotic drug combination for Bartonella henselae neuroretinitis. DESIGN: The study design was a retrospective case series. PARTICIPANTS: Seven consecutive patients with neuroretinitis and cat scratch disease participated. INTERVENTIONS: Patients underwent medical and ophthalmic evaluations. Blood cultures were obtained, and B. henselae antibody titers were measured. Tuberculosis, Lyme, toxoplasmosis, syphilis, and sarcoidosis were excluded. Patients received oral doxycycline 100 mg and rifampin 300 mg twice daily for 4 to 6 weeks and were observed for an average of 16 months (range, 10-24 months). Formal electrophysiologic testing was performed in three patients after resolution of neuroretinitis. MAIN OUTCOME MEASURES: The changes in ocular inflammation and visual function associated with treatment were recorded. Follow-up examinations and electrophysiologic testing documented sequelae. RESULTS: Patients presented following cat exposure with fever, malaise, and blurred vision. Decreased visual acuity (ranging from 20/40 to counting fingers) frequently was associated with dyschromatopsia and afferent pupillary defects. Ophthalmoscopic analysis showed signs of neuroretinitis, including nerve fiber layer hemorrhages, cotton-wool spots, multiple discrete lesions in the deep retina, and stellate macular exudates. B. henselae infection was confirmed with positive blood cultures or elevated immunofluorescent antibody titers or both. Therapy appeared to promote resolution of neuroretinitis, restoration of visual acuity, and clearance of bacteremia. After 1 to 2 years, two eyes had residual disc pallor, afferent pupillary defects, retinal pigmentary changes, and mildly decreased visual acuity. Electrophysiologic studies showed that when compared to the fellow eye, affected eyes had subnormal contrast sensitivity, abnormal color vision, and abnormal visually evoked potentials. Conversely, electroretinograms were normal in all subjects. CONCLUSIONS: B. henselae is a cause of neuroretinitis in cat scratch disease. Compared to historic cases, doxycycline and rifampin appeared to shorten the course of disease and hasten visual recovery. Long-term prognosis is good, but some individuals may acquire a mild postinfectious optic neuropathy.

Adult↗

Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies.

OBJECTIVE: To describe the clinical findings and refine the clinical diagnostic criteria for dominant optic atrophy based on eight British families in which the diagnosis was confirmed by linkage analysis. DESIGN AND PARTICIPANTS: Case series; 92 subjects in 8 pedigrees had both eyes examined. INTERVENTION: Family members received a domiciliary examination based on best-corrected visual acuity, color vision using Ishihara and Hardy Richter Rand (HRR) plates, confrontation field testing using a red target, and optic disc evaluation using a direct ophthalmoscope. Genomic DNA was extracted from leukocytes or buccal mucosal cells and genotyped using 12 fluorescently labeled microsatellite markers from the region 3q27-q29. MAIN OUTCOME MEASURES: Subjects were classified clinically as definitely or possibly affected on the basis of the domiciliary examination before genetic analysis, and these results were compared with the haplotype analysis. RESULTS: Clinically, 43 subjects were identified as definitely affected, 4 as possibly affected, and 45 as unaffected. Visual acuity in affected subjects ranged from 6/6 to count fingers and declined with age. On genetic analysis, a haplotype was identified in each family, which was found in all definitely affected members but not in those regarded as unaffected. The four possibly affected individuals also bore the haplotype that segregated with the disease. CONCLUSIONS: Simple clinical tests are highly efficacious in diagnosing dominant optic atrophy. Contrary to accepted criteria, symptoms begin before the age of 10 years in only 58% of affected individuals. Visual acuity in affected subjects is highly variable. A mild degree of temporal or diffuse pallor of the optic disc and minimal color vision defects, in the context of a family with dominant optic atrophy, are highly suggestive of an individual being affected, even if the visual acuity is normal. This widens the generally accepted diagnostic criteria for this disease.

Adolescent↗