Cases reported "Vision Disorders"

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1/50. Ocular findings in ichthyosis follicularis, atrichia, and photophobia syndrome.

    ichthyosis follicularis, atrichia, and photophobia (IFAP) are typical features of a rare neuroichthyosis termed IFAP syndrome. We demonstrate the ultrastructural findings of the eyes from a 33-year-old patient with IFAP syndrome. Clinically, eyebrows and eyelashes were absent from birth, and photophobia was noted at the age of 1 year. The globes measured 28 and 29 mm, respectively, and both eyes showed a posterior staphyloma. Histopathologically, bilateral centrally located subepithelial avascular corneal scarring with secondary corneal amyloid deposition was found. In addition to already described ocular abnormalities in IFAP syndrome we demonstrate ultrastructural anomalies of desmosomes and tonofilaments in corneal epithelium; defects of basement membrane, Bowman layer, and anchoring fibrils; secondary corneal amyloid deposition; and keratocyte degeneration. A defective tear film, recurrent atopic keratoconjunctival inflammations, or a primary anomaly of corneal epithelial adhesion are potential causes for the corneal defects. photophobia is most likely due to corneal abnormalities.
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keywords = membrane
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2/50. Polypoidal choroidal vasculopathy treated with macular translocation: clinical pathological correlation.

    AIMS: To report the histopathology of two specimens of polypoidal choroidal vasculopathy (PCV) obtained from two eyes of Japanese patients. methods: Specimens were obtained under direct visualisation during macular translocation surgery with 360 degree retinotomy. The clinical findings were correlated with the light microscopic findings of the two specimens. RESULTS: One specimen from a 77 year old man was the central portion of the lesion that lay under the sensory retina on the retinal pigment epithelium (RPE). The specimen was made up mainly of fibrous tissue with small, thin walled vessels. indocyanine green angiography after surgery revealed that active leaking polypoidal element remained under the RPE. Another specimen obtained from a 62 year old man was made up of a fibrovascular membrane situated within Bruch's membrane. The part of this specimen inferior to the foveal region included a collection of dilated, thin walled blood vessels without pericytes, surrounded by macrophages that stained positive for CD68. The dilated vessels appeared to be correlated with the orange coloured polyps observed by ophthalmoscopy, the polypoidal structure seen in indocyanine green angiograms, and the pyramidal elevation with intermediate reflectivity by optical coherence tomography. CONCLUSION: Polypoidal structures are located within Bruch's space. They are composed of clusters of dilated, thin walled blood vessels surrounded by macrophages and fibrin material. The positive immunohistochemical staining for vascular endothelial growth factor in the RPE and the vascular endothelial cells suggests that this fibrovascular complex is a subretinal choroidal neovascularisation.
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3/50. Limited macular translocation with scleral retraction suture.

    BACKGROUND/AIMS: Macular translocation with scleral imbrication is a new technique for treating subfoveal choroidal neovascular membranes (CNV). This procedure shortens the sclera but may result in a minimal decrease in the internal circumference of the globe and limits the amount of foveal displacement. The authors propose a new scleral retraction suture aimed at decreasing the internal circumference of the globe in an effort to increase foveal displacement. methods: Using a cadaver model, they compared the amount of scleral shortening using a standard scleral imbrication technique and a modified three suture scleral retraction technique. Sections of the globes were digitised and specialised software was used to estimate the amount of scleral shortening. Three patients with subfoveal choroidal neovascularisation underwent limited macular translocation using pars plana vitrectomy and macular detachment with the modified scleral suture technique. The main outcome measures were visual acuity, foveal displacement, and complications. RESULTS: In the cadaver model, the scleral retraction suture resulted in a flatter internal scleral fold compared to the standard suture technique and created approximately 890 microm of effective scleral shortening. In the patients who underwent macular translocation and laser photocoagulation of the CNV, visual acuity improved in two patients and worsened in one patient. The range of foveal displacement was 1400-2400 microm. CONCLUSION: The foveal displacements achieved in this limited study compared to median displacement previously published using standard suture techniques demonstrates that the scleral retraction suture technique may be a useful adjunct to limited macular translocation. The advantage of this type of suture in conjunction with translocation may depend on the effective scleral shortening offered by this retraction suture.
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4/50. Juxtapapillary capillary hemangioblastoma.

    BACKGROUND: Juxtapapillary capillary hemangioblastomas are vascular lesions that occur on the optic nerve head or immediately adjacent to the optic disc. Although juxtapapillary capillary hemangioblastomas may appear as an isolated clinical finding, they are more likely to be a precursor to the diagnosis of von Hippel-Lindau (VHL) disease. When associated with VHL, the ocular complications from hemangioblastoma are generally greater, and subsequently the prognosis is poorer than for isolated entities. CASE REPORT: A 67-year-old white male presented to our clinic complaining of decreased vision in both eyes at distance and near. A dilated fundus examination revealed a swollen left optic nerve. Visual field testing revealed an inferior arcuate defect in the left eye. Laboratory and radiological testing were normal. fluorescein angiography showed filling during the retinal arterial phase with late diffuse leakage. Based on these results, a diagnosis of juxtapapillary capillary hemangioblastoma was made. This was later confirmed when fundus photographs taken 7 years earlier were obtained, revealing a stable appearance to the nerve. CONCLUSION: Potential ocular complications of juxtapapillary capillary hemangioblastomas include vision loss secondary to subretinal and intraretinal fluid, as well as epi-retinal membrane formation and, rarely, exudative retinal detachment. Management ranges from observation to surgical intervention, although definitive treatment guidelines have yet to be established. In addition, it is important for the eye care practitioner to be aware of the association with VHL disease, so that patients may be appropriately referred and managed for other possible systemic complications of the disease.
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5/50. Subretinal fibrous membrane following argon laser photocoagulation of presumed histoplasmic maculopathy.

    Following an initial improvement after argon laser slit-lamp photocoagulation of histoplasmic choroiditis, progressive visual loss occurred. Histopathological examination showed a dense fibrous membrane between Bruch's membrane and the sensory retina. There was no recurrence of hemorrhage or subretinal fluid. This case report provides an explanation for visual loss in the absence of recurrent inflammation or vascular leakage.
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keywords = membrane
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6/50. descemet membrane tear after cataract surgery.

    descemet membrane detachment is a potentially devastating complication of cataract surgery. Small localized detachments are rarely problematic, however persistent extensive detachments can affect visual acuity. In severe cases penetrating keratoplasty may be required for restoration of vision. One case of a persistent descemets membrane tear is presented and the progress after surgical repair via suture and injection of air is described. The patient was followed for 5 months after repair with persistent haze and mild corneal edema, though vision improved to 20/25 .
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ranking = 6
keywords = membrane
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7/50. Acute macular pucker.

    PURPOSE: To describe the presenting features, histopathology, and surgical outcome in a group of patients with rapidly progressive macular pucker. DESIGN: Retrospective interventional noncomparative case series. PARTICIPANTS: Five patients. methods: review of case notes and the existing literature. RESULTS: All five patients had rapidly progressive visual loss and metamorphopsia over 2 weeks to 3 months, secondary to macular pucker after retinal tears or detachment. vitrectomy and epiretinal membrane removal was performed within 1 month of diagnosis. In the absence of complications, there was rapid recovery of the visual acuity with resolution of metamorphopsia within 6 weeks to 3 months. Surgical complications limited the visual outcome in two cases. Histopathologic examination of epiretinal membrane removed from two of the cases suggests that these tend to form tubuloacinar structures and contain more retinal pigment epithelium-derived cells than tissue excised from cases with idiopathic macular pucker. CONCLUSIONS: patients with acute macular pucker have precipitous visual loss caused by epiretinal membrane formation after retinal tear or detachment. Early surgery in these patients results in rapid recovery of visual acuity and resolution of metamorphopsia. The clinical features and comparative immunohistochemistry suggest that acute macular pucker is a distinct clinicopathologic entity.
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ranking = 1703.4184490502
keywords = epiretinal membrane, epiretinal, membrane
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8/50. Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene.

    The Mohr-Tranebjaerg syndrome (MTS) is a rare neurodegenerative disorder characterized by early-onset deafness, dystonia and further neurological abnormalities such as cortical blindness, spasticity, dementia and mental retardation. Causative mutations were identified within the deafness-dystonia peptide (DDP1/TIMM8a) gene on the X-chromosome. The DDP1 protein is located in the intermembrane space of human mitochondria. Here, it acts in a complex together with its partner protein Tim13 in a chaperone-like manner to facilitate the import of nuclear-encoded precursor proteins into the mitochondrial inner membrane. Thus, MTS is a novel type of mitochondrial disorder. To obtain more insight into the pathophysiology of this neurodegenerative disorder, we performed for the first time a comprehensive clinical and functional characterization of a patient suffering from MTS. This patient exhibited a typical combination of deafness, dystonia and visual loss. sequence analysis of the patient's DDP1 gene revealed a G to C transversion at nucleotide position 38 of the first exon. The mutation affects the ATG start codon, thereby changing methionine to isoleucine (M1I), and leads to a complete absence of the DDP1 protein. In addition, the partner protein Tim13 was found to be significantly reduced, suggesting that Tim13 requires the presence of DDP1 for its stabilization. The assessment of mitochondrial functions showed the enzyme activities of the mitochondrial energy-generating systems to be normal in the muscle biopsy. Structural abnormalities or aggregations of mitochondria were absent. Electron microscopy revealed only a mild neurogenic atrophy. Neurophysiological investigations showed cochlear dysfunction and disturbance of visual pathways. PET and MRI studies revealed a multifocal pattern of neurodegeneration with hypometabolic areas predominantly located over the right striatum and parietal cortex and marked atrophy of the occipital lobes. Although the visual loss is caused predominantly by neurodegeneration of the visual cortex, degeneration of the retina and the optic nerve contributes to the visual impairment. The pathological changes in basal ganglia and sensory cortex demonstrate the disintegration of subcortico-cortical circuits and correlate well with the clinical presentation of multifocal dystonia. The data presented here showed that, in contrast to most of the known mitochondrial disorders, MTS appears not to be associated with a functional defect of the energy generation system of the mitochondria. Whereas the specific mitochondrial dysfunction leading to neuronal loss in MTS remains to be clarified, the electrophysiological and neuroimaging findings allowed the multifocal manifestation of neurodegenerative lesions in MTS to be characterized specifically.
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ranking = 2
keywords = membrane
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9/50. Visual field defects after uneventful vitrectomy for epiretinal membrane with indocyanine green-assisted internal limiting membrane peeling.

    PURPOSE: To report visual field defects after vitrectomy for epiretinal membrane with indocyanine green (ICG)-assisted internal limiting membrane (ILM) peeling. DESIGN: Interventional consecutive case series. methods: A retrospective review of 16 eyes of 16 patients who underwent vitrectomy for idiopathic epiretinal membrane. indocyanine green-assisted ILM peeling was performed in 7 of 16 eyes. The main outcome measure was postoperative visual field. RESULTS: Four of seven eyes (57%) with ICG-assisted ILM peeling had visual field defects postoperatively. The field defects identified were nasal in three eyes; in the fourth eye, the visual field was constricted to approximately 30 degrees. None of the nine eyes without ICG-assisted ILM peeling had a visual field defect. CONCLUSIONS: Peripheral visual field defects may occur after vitrectomy with ICG-assisted ILM peeling. Although the cause of the defects is unclear, the potential role of ICG toxicity requires further investigation.
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ranking = 3411.8368981005
keywords = epiretinal membrane, epiretinal, membrane
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10/50. Ocular filariasis due to wuchereria bancrofti presenting as panuveitis: a case report.

    PURPOSE: To report a case of ocular filariasis due to wuchereria bancrofti manifesting as panuveitis. DESIGN/methods: Observational case report. RESULT: A 30-year-old, healthy, Asian, Indian male presented with decreased vision and panuveitis with secondary glaucoma in the right eye. Careful slit-lamp examination revealed multiple, tiny, motile larvae in the anterior chamber. Indirect ophthalmoscopy showed vitritis with plenty of vitreous membranes, and subretinal yellow lesions in the peripheral retina along with retinal pigment epithelial tracts. An aqueous tap and a peripheral blood smear isolated microfilariae of W. bancrofti. Therapy with diethyl carbamazine citrate along with systemic steroids provided symptomatic relief. CONCLUSIONS: Ocular filariasis due to W. bancrofti is very rare. It can present in an otherwise asymptomatic patient without any constitutional symptoms. Careful examination, prompt diagnosis, and early treatment can reduce ocular morbidity.
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