GMS ophthalmology cases最新文献

{"title":"Bilateral reversible optic neuropathy as the first sign of Waldenström macroglobulinema.","authors":"Yoshiaki Shimada, Yoshiki Akatsuka, Kazuya Nokura","doi":"10.3205/oc000240","DOIUrl":"10.3205/oc000240","url":null,"abstract":"<p><strong>Objective: </strong>To report a case of bilateral reversible optic neuropathy as the first sign of Waldenström macroglobulinemia (WM).</p><p><strong>Methods: </strong>Observational case report.</p><p><strong>Results: </strong>A 52-year-old man had a sudden loss of vision in the left eye. Examinations revealed the presence of a serum monoclonal immunoglobulin (IgM kappa) in the serum. Even after a session of steroid pulse therapy, optic neuropathy became bilateral and then resolved almost completely after 4 months. The condition progressed to WM with multiorgan lesions years later. There was no evidence of optic neuropathy recurrence. The literature revealed two cases of monoclonal gammopathy (MG): a 64-year-old man with multiple myeloma (MM) with IgA lambda and a 51-year-old man with MM with IgG kappa. These cases have similar conditions: 1) visual reduction as an initial symptom of MG, 2) bilateral involvement, 3) no sign of central nervous system (CNS) infiltration shown by normal brain magnetic resonance images, and 4) recovery to a visual acuity of ≥1.0 bilaterally with no reoccurrence. The excessive Igs or B-cell hyperactivity may activate an autoimmune mechanism that reversibly interferes with the bilateral optic nerves.</p><p><strong>Conclusion: </strong>Bilateral optic neuropathy was the initial symptom of WM. There was no evidence of CNS infiltration; it recovered and then did not reoccur. The pathogenesis remained unknown, but two cases of MG were reported in the literature with remarkably similar conditions.</p>","PeriodicalId":73178,"journal":{"name":"GMS ophthalmology cases","volume":"14 ","pages":"Doc08"},"PeriodicalIF":0.0,"publicationDate":"2024-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11238641/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141592279","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A rare case report of bilateral Purtscher-like retinopathy in juvenile dermatomyositis.","authors":"Nidhi Paharia, Shruti Agrawal, Nikhil Agrawal, Jayesh Shah","doi":"10.3205/oc000237","DOIUrl":"10.3205/oc000237","url":null,"abstract":"<p><strong>Purpose: </strong>To report a rare case of bilateral Purtscher-like retinopathy (PLR) in a young adult diagnosed with dermatomyositis.</p><p><strong>Method: </strong>A case report with multi-modal imaging.</p><p><strong>Result: </strong>A 17-year-old male presented with subacute marked diminution of vision along with arthralgia, weakness of all four limbs and development of multiple rashes around body. Fundus examination revealed bilateral multiple Purtscher flecken, pseudo-cherry red spot, and intra-retinal haemorrhages with cotton wool spots. Systemic and laboratory examinations, magnetic resonance imaging (MRI) and biopsy of tissue confirmed the diagnosis of juvenile dermatomyositis with PLR.</p><p><strong>Conclusion: </strong>Dermatomyositis, being a rare cause of PLR, should essentially be considered as one of the differentials as timely intervention can alter the course of disease and prove life-saving for the patient.</p>","PeriodicalId":73178,"journal":{"name":"GMS ophthalmology cases","volume":"14 ","pages":"Doc05"},"PeriodicalIF":0.0,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11176935/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141332648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare metastasis in a patient with BRAF-mutated rectal cancer: choroidal metastasis - case report and literature review.","authors":"Hacer Demir, Mustafa Muhterem Ekim, Esra Özgül, Sena Ece Davarci, Meltem Baykara","doi":"10.3205/oc000235","DOIUrl":"10.3205/oc000235","url":null,"abstract":"<p><strong>Purpose: </strong>Colorectal cancers are common and have high mortality, and metastasis is common in follow up. Choroidal metastasis is encountered rarely in rectum cancers, and there is no previous case reported from Turkey. We present our patient who developed choroidal metastasis in his cancer follow-up.</p><p><strong>Case report: </strong>A 74-year-old male patient had undergone operation due to the diagnosis of rectum cancer two years ago, and lung (L) metastasis developed in the 4^th month after the adjuvant therapy, but he refused to receive treatment and remained out of follow-up. The patient presented with complaints of decreased vision and light flashes in his eye 21 months after the diagnosis.</p><p><strong>Management and outcome: </strong>Ocular examination revealed a choroidal mass and radiologically choroidal and multiple brain metastases were detected. In our case, whole-brain radiotherapy was administered in the treatment since there were also multiple brain metastases. However, as the ECOG (Eastern Cooperative Oncology Group) performance status of the patient was 3-4 after radiotherapy, systemic treatment was not considered appropriate, and the best supportive care was given. The patient died 2 months after the diagnosis of choroidal metastasis.</p><p><strong>Conclusion: </strong>Currently, there are few suggestions in case reports regarding appropriate treatment approaches for the treatment of rectal cancerchoroidal metastases. Multidisciplinary approaches may be effective for local and systemic treatment. Our case highlights a pathological entity with poor prognosis, which is rarely encountered during the course of rectal adenocarcinomas, and it is the first case of choroidal metastasis reported from our country. However, we believe that it will be important to draw attention to the fact that it is the first reported case of choroid metastasis in a rectal cancer patient with a BRAF V600 E mutation, and patients with BRAF V600 E mutation may develop metastasis to atypical areas due to their aggressive biology.</p>","PeriodicalId":73178,"journal":{"name":"GMS ophthalmology cases","volume":"14 ","pages":"Doc03"},"PeriodicalIF":0.0,"publicationDate":"2024-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11106631/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141077111","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The enigma of a subluxated globe.","authors":"Pratheeba Devi Nivean, T S Mohammed Sayee, Sonam Nisar, Nivean Madhivanan","doi":"10.3205/oc000236","DOIUrl":"10.3205/oc000236","url":null,"abstract":"<p><p>Spontaneous globe subluxation (SGS) is an uncommon condition wherein the equator of the globe protrudes anteriorly beyond the eyelid aperture causing severe lagophthalmos, proptosis and exposure keratopathy. SGS can lead to an emotional disturbance leading to anxiety and fear, thereby affecting one's quality of life. The patients might often be able to reduce the globe on their own, but permanent measures must be taken to prevent recurrence and vision-threatening sequelae of SGS. We present this case due to its rarity and to highlight the importance of a simple, cost-effective and cosmetically acceptable bilateral tarsorrhaphy in management of SGS.</p>","PeriodicalId":73178,"journal":{"name":"GMS ophthalmology cases","volume":"14 ","pages":"Doc04"},"PeriodicalIF":0.0,"publicationDate":"2024-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11106630/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141077209","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ocular surface squamous neoplasia masquerading as pseudoepitheliomatous hyperplasia in chronic vernal keratoconjunctivitis.","authors":"Aditi Ghosh Dastidar, Deepika Khedia, Sugandha Goel","doi":"10.3205/oc000234","DOIUrl":"10.3205/oc000234","url":null,"abstract":"<p><p>We report a rare case of ocular surface squamous neoplasia (OSSN) masquerading as pseudoepitheliomatous hyperplasia in chronic vernal keratoconjunctivitis (VKC). A 24-year-old man presented with a history of bilateral VKC since childhood with a superior limbal mass in the right eye. There was a history of use of intermittent corticosteroids in the past. He underwent impression cytology followed by excision biopsy with wide margins (no touch technique), cryotherapy and amniotic membrane transplantation. Histopathological analysis confirmed the diagnosis of OSSN with mild to moderate dysplasia. This case highlights the importance of strong clinical suspicion and detailed cytological and histopathological examination for early detection and management of OSSN.</p>","PeriodicalId":73178,"journal":{"name":"GMS ophthalmology cases","volume":"14 ","pages":"Doc02"},"PeriodicalIF":0.0,"publicationDate":"2024-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10880557/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139934503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Xerophthalmia secondary to bowel malabsorption after Roux-en-Y gastric bypass.","authors":"José Arturo Oyervides-Alvarado, Schenny Murra-Anton, Ethel Guinto-Arcos, Laura Alejandra González-Dibildox, Nallely Ramos-Betancourt","doi":"10.3205/oc000233","DOIUrl":"10.3205/oc000233","url":null,"abstract":"<p><strong>Introduction: </strong>Vitamin A is a fat-soluble vitamin, obtained through diet. Vitamin A deficiency is the leading cause of preventable blindness in children in developing countries due to impaired intake (Phanachet et al. 2018). Nevertheless, it is uncommon in the developed world where malabsorption takes a prominent role.</p><p><strong>Case description: </strong>A fifty-one-year-old female presented complaining of foreign body sensation, pain, tearing, fluctuating visual acuity, nyctalopia, diarrhea, polyphagia and weight loss. She had history of Roux-en-Y gastro-jejunal bypass, Lynch syndrome and right hemicolectomy with ileo-colonic anastomosis, she also referred to an additional unspecified bowel resection. In the ophthalmologic examination, best corrected visual acuity was 20/30, intraocular pressure was 11 mmHg in both eyes. Anterior segment biomicroscopy revealed a dry and thickened conjunctiva with wrinkles, multiple grey-white small, round, confluent, foamy lesions in the interpalpebral conjunctiva of both eyes, compatible with Bitot's spots, and superficial punctate keratitis.</p><p><strong>Discussion: </strong>The rise of bariatric surgery, inflammatory bowel disease and end stage liver disease has led to an increase in cases of malabsorption syndrome and nutrient deficiencies in the developed world. Retinoids are essential for corneal and conjunctival epithelial cells differentiation and its deficiency is associated with a wide spectrum of ocular surface manifestations known as xerophthalmia. In this case, a gastric bypass and another unspecified bowel resection should raise the suspicion of malabsorption and nutrient deficiencies. In our patient, the diagnosis was made early and appropriate treatment was implemented before irreversible damage arose, however, vitamin A deficiency can be easily overlooked.</p><p><strong>Conclusion: </strong>In patients with xerophthalmia, interrogation should include previous history of gastrointestinal surgery, especially since bariatric surgery has become a popular technique. This is, to our knowledge, the first case report of xerophthalmia in a patient with Lynch syndrome.</p>","PeriodicalId":73178,"journal":{"name":"GMS ophthalmology cases","volume":"14 ","pages":"Doc01"},"PeriodicalIF":0.0,"publicationDate":"2024-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10880556/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139934504","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Focal reactive nodular gliosis: an extremely rare retinal astrocytic tumor.","authors":"Saúl Villoria-Díaz, María Antonia Saornil-Álvarez, Ciro García-Álvarez, Elena García-Lagarto, Irene Bermúdez-Castellanos","doi":"10.3205/oc000230","DOIUrl":"10.3205/oc000230","url":null,"abstract":"<p><p>Focal reactive nodular gliosis (FRNG) is an extremely rare benign retinal reactive astrocytic tumor that results from the proliferation of well-differentiated glial cells secondary to a variety of retinal conditions. We describe a case of this tumor in a 64-year-old male in association with a chorioretinal scar he has had since childhood. The symptom was sudden painful vision loss. In the clinical examination, iris rubeosis, posterior synechiae, cataract, vitreous haze and a suspected fundus mass were showed. B-scan ultrasonography demonstrated a retinal mass consistent with choroidal melanoma. The magnetic resonance imaging (MRI) showed a well-circumscribed mass with T1 hyperintensity and T2 hypointensity. Enucleation was performed and histopathologic and immunohistochemical studies confirmed the diagnosis of FRNG.</p>","PeriodicalId":73178,"journal":{"name":"GMS ophthalmology cases","volume":"13 ","pages":"Doc22"},"PeriodicalIF":0.0,"publicationDate":"2023-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10726562/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138814650","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Infliximab-induced retrobulbar optic neuritis in a patient with ankylosing spondylitis.","authors":"Sema Dündar, Mimbay Yaşar, Harun Çakmak, Nefati Kıylıoğlu, Alparslan Ünsal","doi":"10.3205/oc000232","DOIUrl":"https://doi.org/10.3205/oc000232","url":null,"abstract":"<p><strong>Objective: </strong>To present a case with infliximab-induced retrobulbar optic neuritis.</p><p><strong>Case description: </strong>A 58-year-old woman presented to our clinic with a two-day history of blurred vision in her right eye. She had numerous uveitis attacks previously, and she was on infliximab treatment for ankylosing spondylitis. Her best-corrected visual acuity was counting fingers and 20/25 in the right and left eye, respectively. Optic discs seemed healthy in fundoscopic examination. The right optic nerve showed high signal intensity on magnetic resonance imaging (MRI). Infliximab treatment was discontinued and systemic steroid therapy was started. After the treatment her best-corrected visual acuity improved to 20/20 in her right eye.</p><p><strong>Conclusion: </strong>Infliximab is a chimeric human-murine monoclonal antibody used in autoimmune diseases. Optic neuritis is a rare but important side effect of infliximab. Thus, infliximab-induced optic neuritis should be kept in mind for patients receiving infliximab treatment.</p>","PeriodicalId":73178,"journal":{"name":"GMS ophthalmology cases","volume":"13 ","pages":"Doc24"},"PeriodicalIF":0.0,"publicationDate":"2023-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10726561/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138814656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multimodal analysis in symptomatic MIDD-associated retinopathy. A case report and literature review.","authors":"Katarzyna Chwiejczak, Daniel Byles, Paul Gerry, Hirut Von Lany, Anastasia Tasiopoulou, Andrew Hattersley","doi":"10.3205/oc000231","DOIUrl":"https://doi.org/10.3205/oc000231","url":null,"abstract":"<p><strong>Purpose: </strong>To present results of contemporary multimodal ophthalmic imaging in a case of maternally inherited diabetes and deafness (MIDD) and a literature review of MIDD.</p><p><strong>Methods: </strong>A case of a 47-year-old female with diabetes mellitus, severe insulin resistance, familial lipodystrohy, deafness and increasing problems with vision is reported. A full ophthalmic examination was done, including best corrected visual acuity (BCVA, LogMAR), funduscopy, and imaging studies: optical coherence tomography (OCT), OCT angiography (OCT-A), fundus autofloresence (FAF), visual fields (HVF) 10-2 , electrophysiology (EP) and genetic testing were performed. Literature available on the topic was reviewed.</p><p><strong>Results: </strong>BCVA was 0.06 LogMAR in the right eye and 0.1 LogMAR in the left. Funduscopy revealed atrophy (AT) and pigmentary changes but no diabetic retinopathy. HVF confirmed corresponding defects. The imaging and diagnostic tests showed the following abnormalities: FAF: hypoautofluoresence in areas of AT and mottled appearance in the macular and peripapillary area; OCT: attenuation of outer retinal layers and retinal pigment epithelium (RPE) in the AT; OCT-A: thinning of the deep capillary plexus and choriocapillaris; EP: abnormalities on full field electroretinogram (ERG), 30 Hz flicker and single cone flash response; multifocal ERG: reduced responses; genetic testing: A-to-G transition mutation at position 3243 of the mitochondrial genome, typical for MIDD. After one year OCT ganglion cell analysis showed loss of thickness.</p><p><strong>Conclusions: </strong>Genetic testing should be considered in diabetic patients with pigmentary retinopathy. Imaging studies and diagnostic testing showed structural and functional retinal changes, confined to the macula and progressive in nature.</p>","PeriodicalId":73178,"journal":{"name":"GMS ophthalmology cases","volume":"13 ","pages":"Doc23"},"PeriodicalIF":0.0,"publicationDate":"2023-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10726563/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138814657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A rare presentation of a common carotid artery occlusion.","authors":"Amber Demeuleneere, Julie Lambert, Jelle Demeestere, Robin Lemmens, Inge Fourneau, Sabrina Houthoofd, Pieter-Paul Schauwvlieghe, Julie Jacob, Catherine Cassiman","doi":"10.3205/oc000228","DOIUrl":"https://doi.org/10.3205/oc000228","url":null,"abstract":"<p><strong>Background: </strong>A common carotid artery occlusion (CCAO) is very rare and the clinical features of CCAO have rarely been described. Since the blood supply of the eye and orbit is derived from the internal carotid artery, a CCAO may present with various ophthalmological symptoms, ranging from incidental findings to complete visual loss but also other neuro-ophthalmological abnormalities.</p><p><strong>Case report: </strong>A 61-year-old woman presented with acute monocular vision loss and an elevation deficit of the right eye. Fluorescein angiography showed delayed filling of both the retinal and choroidal vasculature, without occlusion/embolisms of the retinal arteries. Vascular imaging showed a right CCAO.</p><p><strong>Conclusion: </strong>CCAO has a variable presentation. In patients with acute unilateral visual loss a CCAO should be considered, especially when ocular motility deficits are present. Fluorescein angiography examination can aid in the localization and diagnosis of the vascular insult. Urgent referral for a systemic work-up is essential.</p>","PeriodicalId":73178,"journal":{"name":"GMS ophthalmology cases","volume":"13 ","pages":"Doc20"},"PeriodicalIF":0.0,"publicationDate":"2023-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10726582/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138814645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}