Marked Visual Loss Research Articles

MCT1-dependent energetic failure and neuroinflammation underlie optic nerve degeneration in Wolfram syndrome mice.

Wolfram syndrome 1 (WS1) is a rare genetic disorder caused by mutations in the WFS1 gene leading to a wide spectrum of clinical dysfunctions, among which blindness, diabetes, and neurological deficits are the most prominent. WFS1 encodes for the endoplasmic reticulum (ER) resident transmembrane protein wolframin with multiple functions in ER processes. However, the WFS1-dependent etiopathology in retinal cells is unknown. Herein, we showed that Wfs1 mutant mice developed early retinal electrophysiological impairments followed by marked visual loss. Interestingly, axons and myelin disruption in the optic nerve preceded the degeneration of the retinal ganglion cell bodies in the retina. Transcriptomics at pre-degenerative stage revealed the STAT3-dependent activation of proinflammatory glial markers with reduction of the homeostatic and pro-survival factors glutamine synthetase and BDNF. Furthermore, label-free comparative proteomics identified a significant reduction of the monocarboxylate transport isoform 1 (MCT1) and its partner basigin that are highly enriched on retinal glia and myelin-forming oligodendrocytes in optic nerve together with wolframin. Loss of MCT1 caused a failure in lactate transfer from glial to neuronal cell bodies and axons leading to a chronic hypometabolic state. Thus, this bioenergetic impairment is occurring concurrently both within the axonal regions and cell bodies of the retinal ganglion cells, selectively endangering their survival while impacting less on other retinal cells. This metabolic dysfunction occurs months before the frank RGC degeneration suggesting an extended time-window for intervening with new therapeutic strategies focused on boosting retinal and optic nerve bioenergetics in WS1.

Impact of COVID-19-Related Lockdown on Glaucoma Patients

Objectives:To analyze emergency and outpatient admissions by glaucoma patients during complete lockdown due to coronavirus disease 2019 (COVID-19) to assess the effect of pandemic-related complete lockdown on glaucoma patients.Materials and Methods:This retrospective chart review included all glaucoma patients who were either examined and/or underwent emergency surgery between March 11, 2020 and May 31, 2020, a period of complete COVID-19-related lockdown in Turkey. The data were compared with data from patients seen during the same time period in 2019. Visual acuity and intraocular pressure data from patients examined after the lifting of the lockdown were also evaluated.Results:According to Turkish Ministry of Health guidelines, only emergency examinations and surgeries could be performed during the 82 days of the COVID-19 lockdown. During this period, a total of 11 eyes of 10 patients were operated and 123 patients were examined in the outpatient clinic. During the same period in 2019, 122 surgeries were performed, 39 of which were emergencies. In the first 4 weeks after the lockdown ended, 163 patients were examined at the outpatient clinic and marked visual loss was detected in 10 eyes of 9 (5.5%) patients who did not attend follow-up visits due to the pandemic.Conclusion:During the lockdown, emergency surgeries related to glaucoma decreased by 71.7% and marked visual loss was detected in 5.5% of the patients examined after the lockdown. These findings suggest that some patients were unable to present to clinics despite needing emergency care.

A case of cutis verticis gyrata‐mental retardation syndrome accompanied by various neurological abnormalities

AbstractWe report a 44‐year‐old male with cutis verticis gyrate (CVG)‐mental retardation syndrome. His backhead skin formed several folds, which were diagnosed as CVG. Neurological examinations revealed bilateral marked visual acuity loss, deaf‐mutism, mild mental retardation, bilateral Babinski's sign, severe spastic paraplegia, and cerebellar ataxia. Brain magnetic resonance imaging showed atrophy of the cerebellum and the corpus callosum. The fundus showed bilateral optic nerve atrophy. The clinical features had the primary non‐essential form in the CVG classification. Our patient was important because of the low frequency of this form in mental retardation.

Pseudophakic malignant glaucoma - a case report

Purpose. To report a case of malignant glaucoma in a pseudophakic female patient, with no history of glaucoma, resolved through pars plana anterior vitrectomy. Case presentation. An 80-year-old female patient presented in our Emergency Department after a five-day history of pain in her left eye (LE). In the last day, the patient noticed marked visual loss and ocular pain. Visual acuity was light perception and Goldman tonometry was 80 mmHg in her LE. The biomicroscopy revealed absent peripheral and central anterior chamber (AC) and posterior chamber (PC) pseudophakia. Posterior segment ecography showed no vitreous or choroidal abnormalities. A peripheral laser YAG iridotomy was made and the patient was treated with intravenous 20% mannitol, topical timolol, topical brimonidine, and topical cycloplegics. 12 hours later, despite a patent iridotomy in the LE eye, intraocular pressure (IOP) was 55 mmHg, absent AC with severe corneal edema. The diagnosis of pseudophakic malignant glaucoma was made and laser YAG capsulotomy was performed with no resolution of symptoms and signs. 24 hours later, we performed pars plana anterior vitrectomy. Postoperatively, the AC depth increased and the IOP decreased to 20mmHg. After a week, the patient was discharged with hand movement perception visual acuity in her LE, 20 mmHg IOP, reduced corneal edema, normal depth AC. After a month, the corneal edema resolved, the visual acuity was 2/50, IOP was 20mmHg, and the AC had a normal depth. Conclusion. Malignant glaucoma is a sight threatening condition, reported in pseudophakic eyes. Although, literature describes cases solved by cycloplegics and laser YAG capsulotomy, our patient needed pars plana anterior vitrectomy for the resolution of symptoms and signs.

Optic nerve avulsion: A rare presentation of blunt trauma

Optic nerve avulsion is one of the severe complications of blunt ocular trauma. Although a rare entity, optic nerve avulsion should be suspected in all blunt trauma cases presenting with sudden marked visual loss accompanied with dense vitreous hemorrhage.

A case of cortical blindness due to cerebral isquemia during OPCAB surgery and later recovery

AbstractPurpose To describe a case of cortical blindness caused by hypoxia during a bilateral lung transplant in a 19‐year‐old patient affected with cystic fibrosis and later recovery.Methods 19‐year old male diagnosed with cystic fibrosis is set to be operated of a bilateral lung transplant by OPCAB surgery. After the procedure the patient referred marked visual loss (hand movement). Slit lamp exploration was normal as well as funduscopy, OCT, IOP and pupillary reflexes, finding severe alterations in the visual fields performed.Results The patient was diagnosed with bilateral occipital ischemia confirmed by MRI and caused by cerebral hypoxia during surgery. During the last 4 weeks visual acquity has improved to 0.2 (OD) and 0.4 (OS). Visual field results have also improved. As of today the patient evolution is still being followed.Conclusion The critical importance of reducing as much as possible the time of surgery when OPCAB techniques are performed and the possibility of clinical improvement patients may show after cortical isquemia.

Reduced Cerebrovascular Reactivity in Posterior Cerebral Arteries in Patients with Primary Open-Angle Glaucoma

To evaluate the hemodynamics and vasoreactivity in the posterior cerebral artery (PCA) in patients with primary open-angle glaucoma (POAG). Case-control study. Thirteen POAG patients (age range, 40-60 years) with marked visual field loss (mean deviation [MD], <-6 dB); a preserved, mostly normal, central visual field of at least 5°; and best-corrected visual acuity of at least 20/40 formed the study group. Exclusion criterion was presence or history of any systemic disorder including cardiovascular diseases. The control group consisted of 12 healthy subjects matched for age and sex with the study group. Applying transcranial Doppler sonography, we measured hemodynamic parameters in both PCAs at baseline, under monocular reversing checkerboard stimulation, and under hyperventilation. The eye with more marked visual field loss was selected in glaucoma patients, whereas in controls, the tested eye was chosen randomly. Ipsilateral and contralateral PCA were defined according to the tested eye. Peak systolic velocity (PSV), end-diastolic velocity, mean velocity (MV), MV change percentage (MV%), resistivity index (RI), pulsatility index (PI). At baseline, RI (0.55 ± 0.04 vs. 0.52 ± 0.03; P = 0.04) and PI (0.88 ± 0.11 vs. 0.80 ± 0.07; P = 0.04) in the ipsilateral PCA were significantly higher in glaucoma patients than in controls. During checkerboard stimulation, MV% in both PCAs were significantly smaller in the glaucoma group than in controls (19.7 ± 7.2% and 19.0 ± 8.3% vs. 30.7 ± 7.9% and 27.5±9.0%, respectively; P = 0.001 and 0.02, respectively). During hyperventilation, glaucoma patients showed significantly lower MV% in the contralateral PCA than control subjects (-39.8 ± 9.6% versus -47.4 ± 7.0%; P = 0.03). Perimetric pattern standard deviation (PSD) in the tested eye was correlated significantly with RI and PI of the ipsilateral PCA during checkerboard stimulation (P = 0.003, r = -0.76; and P = 0.002, r = -0.76). The MV% of contralateral PCA was correlated inversely with PSD in the fellow eye (P = 0.02, r = -0.64). The difference in MV% between both PCAs was correlated positively with the difference in MD between 2 eyes (P = 0.003, r = 0.75). Under hyperventilation, PSV in the contralateral PCA was correlated negatively with the PSD in the fellow eye (P = 0.03, r = -0.60). Vascular insufficiency in the PCAs may be associated with POAG. Changes in the vasoreactivity of PCAs to central visual stimulation may precede marked central visual field loss.

Combined central retinal vein and artery occlusion in systemic lupus erythematosus patient.

To describe combined central retinal vein occlusion and central retinal artery occlusion in systemic lupus erythematosus patient. An 18-year-old woman came to our clinic complaining of sudden marked visual loss in her right eye. Best-corrected visual acuity was only hand movement in the right eye. An examination of the right fundus revealed a pale and edematous retina with widespread flame hemorrhages, a swollen optic disk, engorged and tortuous retinal veins, and a cherry-red spot, leading to a diagnosis of combined central retinal vein occlusion and central retinal artery occlusion. Fluorescein angiography displayed disk edema and delayed arteriolar filling, with dilated veins that did not fill with fluorescein. Because of the presence of fever, she was referred to the department of internal medicine where she was diagnosed as having systemic lupus erythematosus and antiphospholipid syndrome. The patient received steroid and anticoagulant treatment. To prevent neovascular glaucoma, intense prophylactic panretinal photocoagulation was initiated 2 weeks later. Despite these efforts, consequent retinal neovascularization and neovascular glaucoma were unavoidable. Filtering surgery was performed 1 month after prophylactic panretinal photocoagulation. Although rare, combined central retinal vein and artery occlusion can occur in systemic lupus erythematosus patient.

Drug-induced Optic Neuropathy—TB or Not TB

Autosomal dominant optic atrophy is an inherited optic neuropathy manifesting with variable penetrance and expressivity. Other genetic and environmental factors are postulated to contribute to more marked visual loss in some affected individuals. Optic neuropathy is also a known adverse effect of ethambutol therapy for tuberculosis. This case report demonstrates an atypical presentation of ethambutol toxicity, with progressive profound loss of vision despite drug cessation. A subsequent diagnosis of autosomal dominant optic atrophy was made when the proband's sons presented with mild visual disturbances and color vision defects, confirmed with electrophysiology and OPA1 gene mutational analysis. This case emphasizes the importance of avoiding potentially neurotoxic therapy in predisposed individuals and the influence of environmental factors in patients with inherited optic neuropathies.

Corneal oedema after cataract surgery: predisposing factors and corneal graft outcome

Pseudophakic bullous keratopathy (PBK) is one of the main indications for corneal transplantation. Graft survival and visual outcome in this group are often poorer than for other indications. The aim of this study was to find risk factors for developing corneal oedema after cataract surgery and factors that influence the subsequent survival of the graft and the visual outcome. We carried out an observational, retrospective cohort study using data from the Swedish Cornea Transplant Register and patient medical records. A total of 273 patients whose indication for corneal transplantation was corneal oedema after cataract surgery were included in the study. Multiple logistic regression analysis and, where appropriate, univariate analyses were applied. A total of 43% of the patients developed persistent corneal oedema immediately after cataract surgery, the main risk factors for which were phacoemulsification and pre-existing endothelial disease. Almost a third (32%) of the transplants for PBK failed within 2 years, for which rejection and other postoperative complications increased the risk. Half (50%) the patients had visual acuity < or = 0.1 at 2 years after keratoplasty. Comorbidity, increasing duration of the bullous keratopathy and increasing age affected the visual outcome negatively. Phacoemulsification was a risk factor for immediate persistent corneal oedema after cataract surgery, although it did not increase the overall risk of developing PBK. However, transplants for immediate PBK had a better survival rate than those for later onset PBK. Shorter duration of PBK and intraocular lens exchange at the time of penetrating keratoplasty increased the likelihood of good visual acuity.

Ocular threat in juvenile idiopathic arthritis (JIA)

Results Seventy five children out of 715 children followed for JIA presented CU, 69 medical records were analysed. No CU was detected in systemic, RF positive and psoriatic JIA. Sixty CU were observed in 352 oligarticular JIA subtype, 7 in 122 polyarticular and 2 in ERA JIA subtype. 70% of CU were bilateral. Seventy eight percent of CU were diagnosed at systemic examination. CU was anterior in 41 patients and a panuveitis was diagnosed in 18. Complications were observed in 42 patients (61%), and in 29 of them, complications were present at diagnosis. Synechia, hyperpressure and band keratopathy were the most frequent complications. Marked visual loss (< 5/10) was present at first eye examination in 20 children (29%) (50% were bilateral cases). At last examination, visual loss was present in 14 children (20%), and 3 children (4%) were blind. Medical treatment consisted in local steroids, mydriatics, systemic corticosteroids, methotrexate and antiTNF drugs. Twenty-one children underwent surgical treatment. At final examination, only 11 children had presented a favourable outcome. An unfavourable outcome, defined as the need of multiple surgical episodes, was observed in 21 patients. A chronic course with flares is still present in the other 37 patients.

Optic neuritis complicating viral keratoconjunctivitis: a case report.

It is uncommon for optic neuritis to complicate viral keratoconjunctivitis. A case of optic neuritis in a Korean citizen occurring during an attack of viral keratoconjunctivitis, which caused marked visual loss with rapid visual recovery following the administration of systemic steroids is here reported. Keywords: Viral, conjunctivitis, optic neuritis; complication. Annals of Biomedical Science Vol. 3 (1&2) 2004: pp. 67-70

VISUAL PATHWAY COMPROMISE AFTER HYDROCOIL TREATMENT OF LARGE OPHTHALMIC ANEURYSMS

Hydrogel-coated coils (MicroVention, Inc., Aliso Viejo, CA) for endovascular aneurysm treatment offer the theoretical advantages of increased volumetric occlusion, thrombus stabilization, and improved neointimal healing. Reports of local inflammation and hydrocephalus after coiling of unruptured aneurysms have raised questions about the safety profile or appropriate usage of these new devices. Two patients with large ophthalmic aneurysms underwent elective endovascular coiling with HydroCoils. Three to 4 weeks later, they developed profound, progressive bilateral visual loss. Magnetic resonance imaging scans demonstrated extensive enhancement of the coil ball, surrounding brain parenchyma, and optic chiasm, with perianeurysmal edema. Dexamethasone produced impressive but temporary improvement in vision in one patient; the other experienced only minor improvement. One patient also developed hydrocephalus; ventriculoperitoneal shunting reduced ventricular size but had no effect on vision. Follow-up imaging demonstrated persistent enhancement of the coil ball, as well as recurrence and extension of the abnormal signal in the parenchyma and along the optic tract. Both patients have been left with no functional vision in the eye ipsilateral to the aneurysm and have experienced marked visual field loss and reduced acuity in the contralateral eye. Ongoing international studies will provide more information on the rate of inflammatory complications. The biological mechanisms underlying the phenomenon also require investigation. Meanwhile, we caution against using HydroCoils in situations in which worsened mass effect or local inflammation would have highly deleterious consequences, such as in large aneurysms adjacent to the visual pathways or the brainstem.

Photodynamic treatment of a secondary vasoproliferative tumour associated with sector retinitis pigmentosa and Usher syndrome type I

Vasoproliferative tumours may be primary or secondary and present with severe exudation leading to marked visual loss. We describe a 47-year-old man with unilateral secondary vasoproliferative tumour associated with sector retinitis pigmentosa and Usher I syndrome who was successfully treated with a single session of photodynamic treatment. Standard treatment protocol was used except that the treatment duration was doubled. A year after the treatment, the angioma-like tumour vanished and exudation was dramatically reduced. Photodynamic therapy seems to be a minimally invasive and safe technique in eyes with secondary vasoproliferative tumours.

An unexpected case of panuveitis

We report a case of sight-threatening secondary syphilis with HIV co-infection where atypical pattern of skin manifestations resulted in a delay in making the correct diagnosis. However, despite marked visual loss by the time correct diagnosis was made, the patient responded well, albeit slowly, to a course of intravenous benzyl penicillin.

Cultivated Corneal Epithelial Transplantation for Severe Ocular Surface Disease in Vernal Keratoconjunctivitis

To report cultivated epithelial transplantation in 2 patients with vernal keratoconjunctivitis (VKC) with severe ocular surface disease. Two patients initially diagnosed with burnt-out VKC presented with bilateral photophobia, decreased vision, and corneal neovascularization. The first patient underwent living-related conjunctival-limbal allograft in the left eye and cultivated limbal epithelial cell allotransplant in the right. The second patient underwent unsuccessful amniotic membrane transplantation (AMT) followed by autologous cultivated limbal epithelial cell transplantation in the worse eye. Both patients had onset of VKC in the first decade. Surgical intervention in both led to marked amelioration in symptoms and improvement in vision. In patient 1, vision improved from 20/800 (both eyes) to 20/30 in the right and 20/100 in the left eye at a follow-up of 34 months. In patient 2, it improved from 20/400 to 20/50 after the second procedure, 25 months postoperatively. Histopathology of the excised pannus revealed fibrosis and mononuclear cell infiltrates in all 3 eyes. Severe ocular surface disease may occur in persistent VKC, leading to marked visual loss. AMT alone may be insufficient to restore the ocular surface, and limbal epithelial cell transplantation is warranted.

Posterior ischaemic optic neuropathy: clinical features, pathogenesis, and management

To investigate and present a comprehensive account of the clinical features, pathogenesis, and management of posterior ischaemic optic neuropathy (PION). This retrospective study is based on 53 consecutive eyes of 42 patients with PION seen in my clinic since 1973, who fulfilled the inclusion criteria. They were systematically evaluated, treated, and followed by me. All patients had initially detailed ophthalmic evaluation of the anterior and posterior segments, including visual field with Goldmann perimeter and fluorescein fundus angiography. All patients aged 50 years and older were also investigated for giant cell arteritis (GCA). Every attempt was made to rule out other causes of visual loss. Follow-up evaluation was similar to the initial evaluation except angiography. Aetiologically, PION can be divided into three types: arteritic due to GCA, nonarteritic not due to GCA, and surgical following a surgical procedure. Steroid therapy was given to only those nonarteritic PION patients who opted to try that, but was given to all arteritic PION patients. PION was nonarteritic in 28 patients (35 eyes), arteritic in 12 (14 eyes), and surgical in three (four eyes). Visual acuity varied between 20/20 and no light perception--it was count fingers or less in 19 of 35 eyes with nonarteritic PION, four of 14 in arteritic, and all four with surgical PION. The most common visual field defect was central visual loss, alone or in combination with other types of visual field defects. Initially, optic disc and fundus showed no abnormality but the disc usually developed pallor in about 6-8 weeks. Aggressive treatment with high-dose systemic steroid during the very early stages of nonarteritic PION produced significant improvement of visual acuity as well as visual fields, but not so in arteritic or surgical PION. However, some spontaneous visual improvement also occurred in some untreated nonarteritic PION cases. PION is a distinct clinical entity but should be diagnosed only after exclusion of all other causes of visual loss. In all patients older than 50, GCA must be ruled out. There is usually marked visual loss, with central field defect being the most common. The study suggests that high-dose steroid therapy in nonarteritic PION, soon after the onset of visual loss, resulted in significant visual improvement compared to the untreated cases, but not in arteritic and surgical PION.

Bilateral Total Loss of Vision Following Eclampsia: A Case Report

Visual loss following eclampsia is usually reported to be a result of retinopathy, exudative retinal detachment or cortical blindness. This paper reports the case of a 31-year-old para 5 + 0 housewife who developed bilateral visual loss following eclampsia and presented to the ophthalmologist four weeks later with a vision of light perception in both eyes. Examination showed evidence of hypertensive retinopathy. Convinced that the ocular findings were not responsible for such marked visual loss, she was commenced on systemic, topical and sub-conjunctival injection of steroids, acetazolamide and multivitamins. Her vision improved progressively to 6/6 right eye and 6/9 left eye after three weeks. Obstetricians are advised to refer cases of visual loss following eclampsia promptly to the ophthalmologist who should in turn manage aggressively with systemic, topical and sub-conjunctival steroids.

Discussion by

Initial widespread excitement about creating anastomoses has been dampened by the risk of significant complications, the most devastating of which is choroidovitreal neovascularization that, if not treated early, can lead to marked visual loss despite aggressive efforts to contain it. Because of significant potential complications and low success rates and the recent introduction of other novel therapeutic options, retina specialists rarely or no longer perform this procedure.

Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome

AbstractCarbonic anhydrase II (CAII), found in renal tubules, brain, and osteoclasts, is critical in acid-base homeostasis and bone remodeling. Deficiency of CAII gives rise to a syndrome of osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification with associated developmental delay. It is inherited in an autosomal recessive fashion and found most frequently in the Mediterranean region and the Middle East. We report 2 related Irish families with clinically severe CAII deficiency in whom the gene mutation has been fully elucidated. Two children, one from each family, have undergone allogeneic bone marrow transplantation because of severe progressive visual and hearing loss. The older 2 children had already developed cerebral calcification and marked visual loss at the time of diagnosis and were treated symptomatically. Post-transplantation evaluation at 2 and 3 years demonstrates histologic and radiologic resolution of their osteopetrosis with stabilization of hearing and vision. Both children remain developmentally delayed and continue to have RTA, and the older child has now developed cerebral calcification. Allogeneic bone marrow stem cell replacement cures the osteoclast component of CAII deficiency and retards the development of cerebral calcification, but it appears to have little or no effect on the renal lesions.