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American Journal of Ophthalmology Case... Jun 2020To report a case of bull's eye maculopathy, a novel finding in a patient with iron overload secondary to hereditary hemochromatosis with a homozygous mutation of the...
PURPOSE
To report a case of bull's eye maculopathy, a novel finding in a patient with iron overload secondary to hereditary hemochromatosis with a homozygous mutation of the gene.
OBSERVATIONS
A 39-year-old man with recently diagnosed hereditary hemochromatosis undergoing treatment by serial phlebotomy presented with bilateral progressive blurry vision and recent onset of photopsias and headaches. Fundus examination revealed a symmetric bull's eye maculopathy with photoreceptor loss and retinal pigment epithelium transmission defects in the area of speckled hyper- and hypo-pigmentation by multimodal imaging. Full field and multifocal electroretinograms demonstrated generalized rod and cone dysfunction with some central preservation of waveforms. Further systemic work-up revealed low ceruloplasmin, mildly decreased serum copper and zinc levels, and low urinary copper. The patient underwent testing for inherited retinal dystrophies, but was not found to have any known pathogenic gene mutations. His ferritin levels normalized with serial phlebotomy and his retinopathy did not appear to progress over 6 months with normalization of his iron levels.
CONCLUSIONS AND IMPORTANCE
We report a case of bull's eye maculopathy in a patient with hereditary hemochromatosis with no previous exposure to iron chelators and no known inherited retinal dystrophy. Ocular involvement in hereditary hemochromatosis is relatively rare. In this case, the patient's low serum ceruloplasmin is thought to have increased the amount of redox-active ferrous iron and potentiated retinal iron toxicity resulting in the observed retinopathy. To the authors' knowledge, this is a potentially novel ocular manifestation of hereditary hemochromatosis.
PubMed: 32258826
DOI: 10.1016/j.ajoc.2020.100674 -
American Journal of Ophthalmology Case... Mar 2020To report a case of a woman who had Ehlers Danlos syndrome who developed a bullous retinal detachment.
PURPOSE
To report a case of a woman who had Ehlers Danlos syndrome who developed a bullous retinal detachment.
OBSERVATIONS
A 33-year-old Caucasian woman presented with 1-day history of floaters and photopsia. Patient had extensive scleral ectasia. Scleral buckle could not be performed due the severity of the ectasia. Patient had a vitrectomy and subsequently had multiple re-detachments with sclera ruptures during the retinal detachment repairs. Patient required a 360-degree scleral patch graft to prevent scleral ruptures during the vitrectomy. Patient has a stable flat report 7 months post-op with vision of 1/60.
CONCLUSIONS AND IMPORTANCE
This is the first case report of a patient requiring a 360-degree scleral patch graft. This option should be considered to assist in preventing scleral ruptures, intraoperatively and post operatively in patient who have an increased risk of scleral rupture, such as patients with connective tissue disorders.
PubMed: 32083221
DOI: 10.1016/j.ajoc.2019.100554 -
Medicine Jan 2020Tranexamic acid (TA) has been demonstrated to reduce blood loss and the incidences of postpartum hemorrhage (PPH) during caesarean sections. We compared the clinical... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Tranexamic acid (TA) has been demonstrated to reduce blood loss and the incidences of postpartum hemorrhage (PPH) during caesarean sections. We compared the clinical efficacy of TA administration on vaginal deliveries with recently published papers.
METHODS
Electronic databases of PubMed, Cochrane Library, Embase and Chinese CNKI (Chinese database) and Wanfang were searched through November 2019.The randomized controlled trials were selected between TA and control groups. The relevant studies included four trials with a total of 4579 patients.
RESULTS
Patients treated with TA had a reduction in total blood loss (P = .009), lower postoperative blood loss (P < .00001), a reduced number of PPH (P = .02). However, the occurrence of nausea or/and vomiting is higher in the TA group (the incidence of nausea or vomiting [P < .00001], nausea [P < .00001] and vomiting [P < .00001]).
CONCLUSION
TA resulted in fewer occurrence rates of PPH, and no significant increase in occurrences of dizziness or photopsia, but higher incidence of vomiting and nausea.
Topics: Antifibrinolytic Agents; Delivery, Obstetric; Female; Humans; Postpartum Hemorrhage; Randomized Controlled Trials as Topic; Tranexamic Acid
PubMed: 32011478
DOI: 10.1097/MD.0000000000018792 -
WMJ : Official Publication of the State... Dec 2019We report 3 ocular syphilis cases that highlight the increasing incidence, variable presentation, diagnostic challenges, and treatment considerations of this potentially...
INTRODUCTION
We report 3 ocular syphilis cases that highlight the increasing incidence, variable presentation, diagnostic challenges, and treatment considerations of this potentially visionthreatening disease.
CASE SERIES
A 39-year-old woman with diabetes and intravenous (IV) drug use presented with 3 weeks of decreased vision, left-eye photopsia, and rash. A 52-year-old man who has sex with men (MSM), presented with a 1-month history of upper respiratory infection-like symptoms, right-eye scotoma, redness, headache, and muffled hearing. A 24-year-old man with a history of MSM presented with right-eye scotoma and a history of transaminitis, rash, and systemic symptoms months prior.
DISCUSSION
Syphilis rates are increasing. Each patient presented with nonspecific symptoms that, in retrospect, were early signs of infection. Vision recovery depends on the extent of ocular involvement, early recognition, and prompt initiation of appropriate therapy.
CONCLUSION
Ocular syphilis must be considered in at-risk groups, but systemic signs may precede vision changes. Diagnosis requires a high index of suspicion and treatment with IV penicillin is effective.
Topics: Adult; Anti-Bacterial Agents; Diabetes Mellitus, Type 1; Eye Infections, Bacterial; Female; Homosexuality, Male; Humans; Male; Middle Aged; Penicillins; Risk Factors; Syphilis
PubMed: 31978289
DOI: No ID Found -
Taiwan Journal of Ophthalmology 2019The aim of the study was to describe an optical coherence tomography finding in Vogt-Koyanagi-Harada (VKH) disease and discuss its physiopathology. A 34-year-old...
The aim of the study was to describe an optical coherence tomography finding in Vogt-Koyanagi-Harada (VKH) disease and discuss its physiopathology. A 34-year-old Hispanic male was referred to the retina clinic, with 2 weeks of "drowsiness," headache, photopsia, and blurred vision. He was diagnosed with incomplete VKH. Optical coherence tomography, among other studies, was obtained, and a focal separation of the photoreceptor outer segments (OSs) from the inner neuroepithelium was observed. Here, we report a rare finding associated with VKH disease, which we called photoreceptor stretching and hypothesize it results from the presence of a spot of strong adherence between the OS of the photoreceptors and the retinal pigment epithelium.
PubMed: 31942433
DOI: 10.4103/tjo.tjo_70_19 -
BMJ Case Reports Nov 2019A 64-year-old woman presented with bilateral visual loss with shimmering photopsias as the only clinical manifestation of an occult pancreatic ampullary adenocarcinoma...
A 64-year-old woman presented with bilateral visual loss with shimmering photopsias as the only clinical manifestation of an occult pancreatic ampullary adenocarcinoma causing duct dilatation. Abnormal electroretinograms led to suspicion of cancer-associated retinopathy (CAR), and CT of the abdomen showed an underlying pancreatic malignancy, detected with subclinical liver function tests following diagnosis of CAR. Biopsy showed a T2N0M0 ampullary adenocarcinoma. The patient was managed with Whipple's procedure and adjuvant chemotherapy and has made a good recovery with no progression of her retinopathy. To our knowledge, this is one of the first descriptions of CAR in the context of pancreatic malignancy. It is atypical in its asymmetric presentation and favourable patient outcome. CAR is an important diagnosis to make, as ocular manifestations can be the only indication of an occult malignancy, resulting in a swifter diagnosis and potentially life-saving early intervention.
Topics: Adenocarcinoma; Ampulla of Vater; Female; Humans; Middle Aged; Pancreatic Neoplasms; Retinal Diseases; Vision Disorders
PubMed: 31712238
DOI: 10.1136/bcr-2019-231444 -
Case Reports in Ophthalmological... 2019Multimodal imaging techniques were performed in a patient with a newly emerged visual field defect; a missing retinal lesion on fundus examination made the diagnosis...
Multimodal imaging techniques were performed in a patient with a newly emerged visual field defect; a missing retinal lesion on fundus examination made the diagnosis challenging but infrared imaging showed a larger area of retinal abnormality temporal to the fovea. Indocyanine green angiography (IA) showed late hypofluorescence and there was mild hyperautofluorescence which is known from acute zonal occult outer retinopathy (AZOOR). Despite normal fluorescein angiography (FA) results, a perfusion loss in the outer retinal layer was detected by OCT-A. Similar OCT-A findings were recently described in patients with acute macular neuroretinopathy (AMN). . The methods included FA and IA, spectral domain optical coherence tomography (SD-OCT), near infrared imaging, and autofluorescence imaging (AF), as well as OCT-A. A 36-year-old patient who suffered from acute symptoms of photopsia and scotoma on her left eye. She had an influenzalike illness two weeks earlier. The scotoma could be verified by visual field testing. . The affected retinal zone showed mild fading of external limiting membrane (ELM) and a disorganisation of the ellipsoid zone (EZ) on SD-OCT. OCT-A revealed a large area of reduced perfusion in the outer retinal vascular layer. . OCT-A can help to detect reduced capillary network in patients with visual field defects and no visible fundus changes. This case seems to have features of different occult retinal disorders such as AZOOR and AMN.
PubMed: 31341688
DOI: 10.1155/2019/4349692 -
Investigative Ophthalmology & Visual... May 2019Melanoma-associated retinopathy (MAR) is a paraneoplastic syndrome associated with cutaneous malignant melanoma (CMM). Visual symptoms include night blindness,...
PURPOSE
Melanoma-associated retinopathy (MAR) is a paraneoplastic syndrome associated with cutaneous malignant melanoma (CMM). Visual symptoms include night blindness, photopsia, and reduced-contrast sensitivity. An abnormal ERG b-wave and the presence of anti-bipolar cell autoantibodies, including autoantibodies reacting with the ON-bipolar cell TRPM1 channel, help to confirm the diagnosis. The goal of this study was to determine if CMM patients without visual symptoms also express anti-TRPM1 autoantibodies.
METHODS
Serum samples from 15 CMM patients were tested using three assays: immunofluorescent labeling of TRPM1-transfected HEK cells, immunofluorescent labeling of retinal sections from wild-type and TRPM1 knockout mice, and immunoblot detection of a bacterially produced recombinant TRPM1 peptide.
RESULTS
Serum specimens from 5 of the 15 CMM patients without declared visual symptoms were positive for anti-TRPM1 autoantibodies in at least one of the three assays. One of 50 control sera from patients not known to have cancer was also weakly reactive with the TRPM1 peptide.
CONCLUSIONS
Autoantibodies against TRPM1 are present in CMM patient sera without self-reported visual symptoms. Most patients had advanced (stage III and IV) disease and were undergoing aggressive treatments, including immunotherapy. It is unknown if immunotherapy affects the expression of TRPM1 autoantibodies. The presence of TRPM1 autoantibodies may predispose patients for MAR.
Topics: Animals; Autoantibodies; Case-Control Studies; Cells, Cultured; Humans; Melanoma; Mice; Paraneoplastic Syndromes, Ocular; Skin Neoplasms; TRPM Cation Channels; Melanoma, Cutaneous Malignant
PubMed: 31117125
DOI: 10.1167/iovs.19-26775 -
Ocular Oncology and Pathology Apr 2019We report a case of suprachoroidal hemorrhage simulating choroidal melanoma in a patient with idiopathic thrombocytopenic purpura (ITP).
BACKGROUND
We report a case of suprachoroidal hemorrhage simulating choroidal melanoma in a patient with idiopathic thrombocytopenic purpura (ITP).
METHODS
Case report.
RESULTS
A 79-year-old white male with a history of lung adenocarcinoma, ITP, and mild anemia noted blurred vision with photopsia and floaters in the right eye (OD) that worsened over 2 months. He was found to have a pigmented choroidal mass and was referred for evaluation of possible choroidal melanoma. Visual acuity was 20/30 in the affected right eye and 20/25 in the left eye (OS). There was mild vitreous hemorrhage and 2 pigmented peripheral choroidal tumors in the temporal and nasal fundus OD. B-scan ultrasonography confirmed 2 acoustically hollow tumors, and transillumination demonstrated no shadowing. Optical coherence tomography over the lesions revealed choroidal elevation with suprachoroidal scalloped surface. Fluorescein and indocyanine green angiography revealed normal choroidal fluorescence and cyanescence with no "double circulation" of melanoma and no dye blockage, suggesting a suprachoroidal location. These findings were suggestive of suprachoroidal hemorrhage rather than melanoma. The patient was managed conservatively, and the hemorrhages demonstrated spontaneous resolution.
CONCLUSION
Ocular manifestations of ITP are uncommon. Rarely, spontaneous suprachoroidal hemorrhage simulating melanoma can occur. A thorough clinical evaluation with multimodal imaging is critical to establishing the appropriate diagnosis.
PubMed: 31049321
DOI: 10.1159/000490390 -
BMC Ophthalmology May 2019Cancer-associated retinopathy (CAR) is associated with various malignancies, including small cell lung cancer (SCLC). It is difficult to recognize, but prompt diagnosis...
BACKGROUND
Cancer-associated retinopathy (CAR) is associated with various malignancies, including small cell lung cancer (SCLC). It is difficult to recognize, but prompt diagnosis is crucial for the patient, as retinopathy may be a herald sign that precedes systemic manifestations by months, thus allowing early treatment of the underlying malignancy.
CASE PRESENTATION
We present a rare case of CAR with chorioretinitis and optic neuritis in a patient with occult SCLC. The patient presented with rapidly progressive peripheral field loss and photopsias with "prism-like" visual disturbances. Her symptoms stabilized with intravenous methylprednisolone, and her cancer was treated with carboplatin, etoposide and radiotherapy.
CONCLUSIONS
This is the first reported case of SCLC-associated CAR to present with chorioretinitis. CAR can be a herald feature of SCLC, and early recognition of the disease should prompt a systemic evaluation for an occult malignancy, which may be critical for patient survival. Further understanding of CAR pathogenesis may offer potential avenues for treatment.
Topics: Chorioretinitis; Female; Humans; Lung Neoplasms; Middle Aged; Optic Neuritis; Paraneoplastic Syndromes, Ocular; Small Cell Lung Carcinoma
PubMed: 31046716
DOI: 10.1186/s12886-019-1103-4