Cases reported "Optic Nerve Diseases"

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1/15. Bilateral periopticointrascleral hemorrhages associated with traumatic child abuse.

    PURPOSE: To report a case of bilateral periopticoscleral hemorrhages associated with traumatic child abuse. methods: Postmortem gross examination and histopathologic studies of both eyes and the optic nerves of a 6-month-old infant who died from subdural hematoma. RESULTS: Gross examination and histopathologic step sections disclosed bilateral intrascleral hemorrhages around both optic nerves. In addition, bilateral diffuse multilayered retinal, vitreous, and sublaminar (beneath the internal limiting membrane) hemorrhages were present. CONCLUSION: Periopticointrascleral hemorrhages are characteristic of blunt head trauma and may constitute important forensic evidence in cases of suspected child abuse.
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2/15. Visual outcome of malignant hypertension in young people.

    A retrospective review was carried out of patients under 16 years old with malignant hypertension, who had been referred to a teaching hospital ophthalmology department because of reduced visual acuity. Four patients (three girls, one boy) were seen between 1994 and 2000 with a mean age at presentation of 11.5 years (range 9-15). In the short term, visual acuity improved after control of blood pressure in all four patients. However, in the long term, two patients were registered blind one to two years after presentation, one because of a choroidal neovascular membrane developing at the macula, and the other because of progressive optic neuropathy. Both of these patients had a longer duration of symptoms before diagnosis, worse visual acuity, and higher blood pressure at presentation when compared with the patients who made a good visual recovery. These observations suggest that early diagnosis of malignant hypertension in children is essential in reducing the likelihood of permanent severe visual damage.
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3/15. Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene.

    The Mohr-Tranebjaerg syndrome (MIM 304700) and the Jensen syndrome (MIM 311150) were previously reported as separate X-linked recessive deafness syndromes associated with progressive visual deterioration, dystonia, dementia, and psychiatric abnormalities. In the most extensively studied Norwegian family, the Mohr-Tranebjaerg syndrome was reported to be caused by a one-basepair deletion (151delT) in the deafness/dystonia peptide (DDP) gene at Xq22. This gene has been renamed TIMM8a. We identified a stop mutation (E24X) in the TIMM8a gene segregating with the disease in the original Danish family with the Jensen syndrome, which confirms that the two disorders are allelic conditions. We also report abnormal VEP examinations and neuropathological abnormalities in affected males from the two unrelated families with different mutations. The findings included neuronal cell loss in the optic nerve, retina, striate cortex, basal ganglia, and dorsal roots of the spinal cord. The demonstration of mitochondrial abnormalities in skeletal muscle biopsies in some patients is compatible with the suggestion from recent research that the TIMM8a protein is the human counterpart of an intermembrane mitochondrial transport protein, Tim8p, recently characterized in yeast. The clinical and neuropathological abnormalities associated with mutations in the TIMM8a gene support that this X-linked deafness-dystonia-optic neuropathy syndrome is an example of progressive neurodegeneration due to mutations in a nuclear gene necessary for some, yet unknown mitochondrial transport function. We recommend sequencing the TIMM8a gene, thorough ophthalmological examination, and measuring visual evoked potentials in clinically suspected male patients with either progressive hearing impairment, dystonia, or visual disability in order to establish an early diagnosis and provide appropriate genetic counselling.
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4/15. Visual field defect caused by nerve fiber layer damage associated with an internal limiting lamina defect after uneventful epiretinal membrane surgery.

    PURPOSE: To report a case of visual field defect caused by damage of the nerve fiber layer associated with an internal limiting lamina defect after uneventful epiretinal membrane peeling. DESIGN: Interventional case report. methods: In the right eye, a 43-year-old male patient developed a nasal step and mild inferior arcuate scotoma after uneventful epiretinal membrane surgery without any associated glaucoma. Transmission electron microscopy was performed on the epiretinal membrane specimens. RESULTS: An epiretinal membrane specimen showed adhesion between epiretinal membrane and axons of nerve fiber layer in the area of the internal limiting lamina defect. CONCLUSION: Adhesion between epiretinal membrane and retinal tissue in the area of the internal limiting lamina defect may cause damage of the nerve fiber layer and visual field defect after epiretinal membrane peeling.
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keywords = epiretinal membrane, epiretinal, membrane
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5/15. Perifoveal traction retinal detachment following successful optic disc pit surgery.

    A 25-year-old male presented 8 years after a successful vitreoretinal operation for a left optic disc pit (ODP). On presentation his visual acuity had reduced from 6/5 (20/15) to 6/12 (20/40) in his operated eye. On examination an annular serous retinal detachment possibly secondary to tangential traction by either the internal limiting membrane (ILM) or residual lamellar vitreous cortex or both around the peripheral macular area was seen. The central fovea was flat. Following an uncomplicated vitrectomy and ILM peel, visual acuity improved to 6/6 (20/20) postoperatively. The author suggests that traction forces are responsible for the development of the serous detachment in eyes with ODP. Epiretinal membranes together with the ILM should be removed in all patients undergoing therapy for a retinal detachment associated with ODP in an effort to initially achieve a further relief of all forces and to try to avoid the late retinal detachment associated with epiretinal membrane or ILM contraction.
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keywords = epiretinal membrane, epiretinal, membrane
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6/15. Optic disc traction syndrome associated with central retinal vein occlusion.

    OBJECTIVE: To describe the association between ischemic central retinal vein occlusion (CRVO) and the development of optic disc (vitreopapillary) traction, as verified by optical coherence tomography (OCT). methods: In a prospective, noncomparative, observational patient series, 3 women aged 51 to 64 years developed an ischemic type of CRVO. One patient underwent cannulation of the central retinal vein with injection of a tissue plasminogen activator. In each eye, the contour of the optic nerve head could not be accurately detected because of overlying fibrous tissue. Each patient underwent OCT examination 6 to 10 months (average, 8.3 months) after the occlusive event. RESULTS: Optic disc traction was found by OCT in the 3 patients. In each, the disc was elevated, associated with either incomplete posterior vitreous detachment (2 eyes) or vitreopapillary fibrous membrane (1 eye). Secondary peripapillary retinal traction and macular or retinal detachment developed ("optic disc traction syndrome"). These findings were less marked, or not evident, on both clinical examination and ocular ultrasonography. CONCLUSIONS: Optic disc traction and secondary localized retinal detachment can develop after ischemic CRVO and may contribute to the poor visual acuity. This syndrome should merit special attention before surgery for CRVO is planned. The use of OCT was helpful to diagnose this syndrome.
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7/15. Ocular conditions associated with peripapillary subretinal neovascularization, their relative frequencies, and associated outcomes.

    OBJECTIVE: To determine frequency and outcomes of conditions with peripapillary subretinal neovascular membranes (PSRNVMs). DESIGN: Retrospective observational case series. PARTICIPANTS: All patients from a private community-based retina practice diagnosed with a PSRNVM. methods: review of clinical charts, photographs, and fluorescein angiograms of 115 eyes of 96 patients, accrued over 18 years. MAIN OUTCOME MEASURES: Demographics, visual acuity (VA), laterality, neovascular membrane type and recurrence status over treatment course, and associated ocular conditions. RESULTS: Prevalences of reported associations were 52 (45.2%), age-related maculopathy (arm); 45 (39.1%), idiopathic; 5 (4.3%), multifocal choroiditis; 3 (2.6%), angioid streaks; 2 (1.7%), histoplasmosis; 2 (1.7%), choroidal osteoma; 1 (0.9%), optic disc drusen; and 1 (0.9%), congenital disc anomaly. Newly recognized associations include pattern dystrophy (3 [2.6%]) and peripapillary pseudopodal pigment epithelial and choroidal atrophy (1 [0.9%]). Second-eye involvement was observed in 19.8% of patients over a median follow-up of 2 years. Median initial VAs were 20/40 for arm-associated eyes and 20/30 for idiopathic eyes (P = 0.0230). Median final VAs were 20/70 for arm-associated eyes and 20/32 for idiopathic eyes (P = 0.0261). The VA changes in the arm-associated and idiopathic groups did not differ significantly (P = 0.1453). recurrence of PSRNVMs after laser ablation was seen in 14 of 73 eyes (19.2%). A case of a PSRNVM as a cause of pseudopapilledema leading to unnecessary neurological imaging is reported. CONCLUSIONS: Close inspection of fellow eyes at the time of first eye diagnosis and regular follow-up afterward are indicated, given the high rate of eventual bilateral involvement regardless of associated condition. Laser ablation of PSRNVMs with broad treatment margins reduces recurrence rates relative to earlier series. The differential diagnosis of disc edema should include PSRNVMs. Pattern dystrophy can be associated with PSRNVMs.
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8/15. Clinicopathologic correlation of retinal to choroidal venous collaterals of the optic nerve head.

    An optic nerve meningioma developed in an elderly woman and was followed for 13 years until her death. The optic nerve was initially normal. Over time it became swollen and then atrophic and developed retinal venous to choroidal venous collaterals. Five hundred serial sections were prepared through the optic nerve and for approximately 1.5 mm superiorly and inferiorly to the optic nerve to trace the course of the collaterals that were seen ophthalmoscopically and angiographically in the optic nerve head. This clinicopathologic study shows clearly that the abnormal channels are, in fact, retinal venous to choroidal venous collaterals (bypass channels). Four collaterals extended around the end of Bruch's membrane at the optic nerve head. Two more collaterals extended through the retinal pigment epithelium to become continuous with a subretinal pigment epithelial neovascular membrane, the vessels of which connected with the choroidal vessels through a defect in Bruch's membrane.
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9/15. Relative afferent pupillary defect in the "better" eye.

    A relative afferent pupillary defect usually occurs in an eye with unilateral or asymmetric optic nerve or extensive retinal disease. In general, the eye with poorer visual acuity has the afferent pupillary defect. Twenty-five patients are reported, however, in whom an afferent pupillary defect occurred in the eye with better visual acuity. These eyes had optic nerve or retinal dysfunction. The eyes with worse visual acuity but no afferent pupillary defect had an abnormality of the ocular media (corneal opacity, hyphema, anterior segment membrane, cataract, or vitreous opacity), amblyopia, refractive error, age-related macular degeneration, or cystoid macular edema. An afferent pupillary defect does not necessarily occur in the eye with poorer visual acuity.
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10/15. Retinochoroidal coloboma: varieties of clinical presentations.

    Several presentation and associated clinical problems can be seen with retinochoroidal colobomas. We review five cases of retinochoroidal coloboma with no specific clinical problems and present five cases with clinical visual impairment. The five symptomatic cases include: one with extensive bilateral involvement; one with associated rhegmatogenous detachment and peripheral tears; one with retinal detachment and apparent holes in the intercalary membrane; one with subretinal neovascularization; and a case with diabetic retinopathy, optic nerve coloboma, and peripheral retinochoroidal coloboma in one eye and a total coloboma in the other eye.
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