GMS ophthalmology cases最新文献

{"title":"Treating metastatic extraocular retinoblastoma complicated with Langerhans cell histiocytosis.","authors":"Marya Hameed, Fatima Siddiqui, Muhammad Khuzzaim Khan, Sindhura Tadisetty, Prasanna Kumar Gangishetti","doi":"10.3205/oc000258","DOIUrl":"10.3205/oc000258","url":null,"abstract":"<p><strong>Objective: </strong>Retinoblastoma (Rb) and Langerhans cell histiocytosis (LCH) are rare and distinct diseases that can coexist in a patient. We present a case report of a 5-year-old male who was diagnosed with bilateral retinoblastoma and LCH involving the skull and spine.</p><p><strong>Methods: </strong>The patient underwent a detailed clinical evaluation, including a complete ophthalmic examination, neuroimaging studies, and bone marrow biopsy. A genetic test confirmed the presence of the BRAF V600E mutation in the LCH lesion. Treatment with BRAF inhibitors was initiated for LCH, followed by chemotherapy and left eye enucleation for retinoblastoma. The patient was monitored closely during treatment and at follow-up visits.</p><p><strong>Results: </strong>The patient responded well to therapy, with no evidence of disease recurrence at 12-month follow-up and the enucleated eye was replaced with a prosthesis. The BRAF inhibitor was found to be an effective therapeutic option for the patient with BRAF-positive LCH.</p><p><strong>Conclusion: </strong>Our case highlights the importance of early diagnosis and prompt treatment in managing complex cases with coexisting retinoblastoma and LCH. Treatment with BRAF inhibitors could be a promising therapeutic option for patients with BRAF-positive LCH. Further studies are needed to evaluate the efficacy and safety of BRAF inhibitors in the treatment of LCH. The long-term outcome and potential late effects of combined therapy for coexisting retinoblastoma and LCH should also be monitored closely.</p>","PeriodicalId":73178,"journal":{"name":"GMS ophthalmology cases","volume":"15 ","pages":"Doc10"},"PeriodicalIF":0.0,"publicationDate":"2025-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12715563/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145806641","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":"Purtscher-like retinopathy as the manifestation of adult Still's disease.","authors":"Maria Lourdes Castro de Oliveira Figueiroa, Ricardo Danilo Chagas Oliveira, Gustavo Luiz Behrens Pinto, Maria Carolina Moura Costa Campos, Lizandra Almeida David da Silva Viana, Izabela Prado Viana, Mittermayer Barreto Santiago","doi":"10.3205/oc000257","DOIUrl":"10.3205/oc000257","url":null,"abstract":"<p><p>Adult Still's disease (ASD) is a rare systemic inflammatory disorder for which ocular manifestations have rarely been described. We report a case of 38-year-old Brazilian woman with Purtscher-like retinopathy as a manifestation of ASD. She was diagnosed with Purtscher-like retinopathy based on fundoscopic findings, which revealed vasculitis with diffuse and bilateral perimacular cotton-wool exudates. She also presented with fever, arthritis, weight loss, and a diffuse cutaneous rash. Considering the severity of the retinopathy, she was initially treated with methylprednisolone pulse therapy and oral methotrexate, and later with infliximab, with the treatment changing due to partial recovery of vision loss. Purtscher-like retinopathy is a poor prognostic factor for ASD, as it can lead to permanent visual damage. Thus, early and aggressive immunosuppressive therapy is mandatory.</p>","PeriodicalId":73178,"journal":{"name":"GMS ophthalmology cases","volume":"15 ","pages":"Doc09"},"PeriodicalIF":0.0,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12587038/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145460873","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 sequence of events in six years of a myopic traction maculopathy.","authors":"Prabu Baskaran, Bharg Kariya, Anand Rajendran","doi":"10.3205/oc000256","DOIUrl":"10.3205/oc000256","url":null,"abstract":"<p><strong>Purpose: </strong>To describe the sequence of events in a case of high myope with myopic traction maculopathy.</p><p><strong>Methods: </strong>Our female patient who is a high myope developed myopic choroidal neovascular membrane (CNVM), for which she received three anti-vascular endothelial growth factor injections (VEGF). It was scarred for a while. Later she developed myopic foveoschisis with macular detachment which progressed over a period with deterioration of vision.</p><p><strong>Results: </strong>She underwent pars plana vitrectomy with silicone oil tamponade. Oil removal was done eight months later. At the last follow up visit, her macula was flat with stable vision.</p><p><strong>Conclusion: </strong>Myopic traction maculopathy (MTM) is a challenging case to manage with its myriad of presentations and complex pathology.</p>","PeriodicalId":73178,"journal":{"name":"GMS ophthalmology cases","volume":"15 ","pages":"Doc08"},"PeriodicalIF":0.0,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12447764/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114938","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":"Taxane-associated retinopathy and radiation-induced optic neuropathy in a young female patient with metastatic breast cancer.","authors":"Suher Abduraman, Bogdana Maliş, Ali Riza Cenk Celebi","doi":"10.3205/oc000255","DOIUrl":"10.3205/oc000255","url":null,"abstract":"<p><strong>Introduction: </strong>Metastatic breast cancer leads to significant challenges in terms of treatment and management, often requiring a multidisciplinary approach due to the potential side effects of chemotherapy and radiotherapy.</p><p><strong>Case description: </strong>We present a case of a metastatic breast cancer patient with central serous chorioretinopathy, recurrent cystoid macular edema, and radiation-induced optic neuropathy that occurred after the treatment with paclitaxel and radiation. A 42-year-old female patient presented to our department with a one-week history of painless, subacute vision loss in her left eye, occurring one year after completing oncological treatment. Her best corrected visual acuity (BCVA) was 20/32 in her left eye, and the optical coherence tomography (OCT) showed central serous chorioretinopathy with spontaneous resolution within 1 month. Seven months later, she presented with a sudden decrease in vision in her right eye; the BCVA was 20/40, the relative afferent pupillary defect was found, and the visual field demonstrated a superior altitudinal defect corresponding to the inferior segmental optic nerve pallor, prompting us to start treatment with prednisolone. Six months later, her vision had fallen to light perception in the right eye and 20/25 in the left eye. The OCT findings were conclusive for cystoid macular edema in her left eye, so we started treatment with aflibercept. Unfortunately, we could not improve the visual outcome in the right eye, which had an amaurotic pupil. Regarding the left eye, the patient experienced recurrent macular edema treated with aflibercept. After several episodes, the patient's BCVA decreased to 20/50 without any improvement.</p><p><strong>Conclusion: </strong>Herein we stated a young patient with metastatic breast cancer who developed a rare and unusual overlap of side effects: paclitaxel-associated retinopathy and radiation-induced optic neuropathy. We aim to illustrate the challenge of managing advanced breast cancer patients and emphasize the importance of careful monitoring for ocular complications, which can impact the patient's quality of life.</p>","PeriodicalId":73178,"journal":{"name":"GMS ophthalmology cases","volume":"15 ","pages":"Doc07"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372525/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144981089","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":"\"Fly in the eye: Oestrus ovis\" - a case report and a review from India.","authors":"Richa Dhiman, Nancy Sharma, Ankita Sihag, Jasleen Singh","doi":"10.3205/oc000254","DOIUrl":"10.3205/oc000254","url":null,"abstract":"<p><p>Ophthalmomyiasis externa is the most common manifestation of <i>Oestrus ovis</i> (sheep nasal botfly) in humans. Several cases have been reported from various regions of India with the first case reported by Elliot in 1910. Here, we report such a case from North India along with the review of literature from India of the last fifteen years. A farmer presented to us with unilateral ocular symptoms of redness, foreign body sensation and severe watering in left eye who was misdiagnosed as acute conjunctivitis elsewhere. On slit lamp examination, multiple translucent larvae were found in his conjunctival sac. Microbiological analysis revealed them to be larvae of the <i>Oestrus ovis</i> fly. External ophthalmomyiasis is an uncommon entity with ocular symptoms mimicking acute conjunctivitis, hence a thorough examination in every suspicious case of acute red eye is important.</p>","PeriodicalId":73178,"journal":{"name":"GMS ophthalmology cases","volume":"15 ","pages":"Doc06"},"PeriodicalIF":0.0,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12286867/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144710066","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":"Shield ulcer in keratoconus in the absence of atopic or vernal kerato-conjunctivitis.","authors":"Magdalena Niestrata, Shuchi Kohli, Mohammad Saleki, Zahra Ashena","doi":"10.3205/oc000253","DOIUrl":"10.3205/oc000253","url":null,"abstract":"<p><p>Corneal shield ulcer is a severe complication of atopic keratoconjunctivitis (AKC) and vernal keratoconjunctivitis (VKC). This condition is caused by the mechanical irritation of the corneal epithelium due to giant papillae and toxic epitheliopathy resulting from inflammatory mediators. To date, there have been no reported cases of corneal shield ulcers in the literature without AKC or VKC. However, the authors have reported a unique case of shield ulcer in a patient with keratoconus but no history of AKC or VKC. The cause is hypothesised to be due to mechanical friction between the corneal steep apex and palpebral conjunctiva. Additionally, a new technique, the use of a dry amniotic membrane, is described to manage the persistent epithelial defect in shield ulcers.</p>","PeriodicalId":73178,"journal":{"name":"GMS ophthalmology cases","volume":"15 ","pages":"Doc05"},"PeriodicalIF":0.0,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12286868/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144710067","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":"Same-side recurrence of unilateral multiple evanescent white dot syndrome following the thermal laser photocoagulation for inflammatory macular neovascularization.","authors":"Barbaros Hayrettin Ünlü, Omer Karti, Ayse Bozkurt Oflaz, Erk Atlay, Ali Osman Saatci","doi":"10.3205/oc000250","DOIUrl":"10.3205/oc000250","url":null,"abstract":"<p><strong>Purpose: </strong>We report the same side recurrence of multiple evanescent white dot syndrome (MEWDS) subsequent to 532 nm laser treatment for the macular neovascularization (MNV) associated with the first MEWDS episode.</p><p><strong>Method: </strong>Retrospective case documentation with the multimodal imaging.</p><p><strong>Result: </strong>A 24-year-old otherwise healthy woman who was diagnosed as having left MEWDS four years ago was re-examined for a visual disturbance of the duration of one month in the same eye. Fundus evaluation led us to the diagnosis of left extrafoveal inflammatory MNV. Surprisingly, she developed further visual deterioration a month following the uneventful 532 nm laser photocoagulation in her left eye. Fundus examination and multimodal imaging tests confirmed the recurrent MEWDS after full negative laboratory work-up. Visual acuity and fundus changes were improved with the help of a short course oral steroid therapy.</p><p><strong>Conclusion: </strong>MEWDS can very rarely recur and thermal laser photocoagulation may be a possible triggering factor.</p>","PeriodicalId":73178,"journal":{"name":"GMS ophthalmology cases","volume":"15 ","pages":"Doc02"},"PeriodicalIF":0.0,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12171975/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144318873","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":"Repeated deep anterior lamellar keratoplasty combined with phacoemulsification.","authors":"Mustafa Kayabaşı, Canan Asli Utine","doi":"10.3205/oc000252","DOIUrl":"10.3205/oc000252","url":null,"abstract":"<p><strong>Objective: </strong>To report the clinical findings and results of a patient who underwent deep anterior lamellar keratoplasty (DALK) combined with phacoemulsification.</p><p><strong>Methods: </strong>Retrospective analysis of a case that underwent unsuccessful DALK surgery with no visual gain due to striations on the posterior surface of the donor, permanent interface irregularity, and scarring.</p><p><strong>Results: </strong>Two years after the first DALK surgery, a repeated DALK was performed in combination with phacoemulsification of the cataract that developed during this period. The graft was clear with no signs of rejection or endothelial decompensation, and corrected distance visual acuity was 6/10 in the postoperative last visit, one year after the surgery.</p><p><strong>Conclusions: </strong>Combining the DALK technique with phacoemulsification in patients with coexisting cataracts may help to achieve a good visual outcome and long-term graft survival. Even after an unsuccessful DALK experience, insisting on preserving the patient's own endothelium resulted in successful vision restoration with no imposition of further risks for graft survival.</p>","PeriodicalId":73178,"journal":{"name":"GMS ophthalmology cases","volume":"15 ","pages":"Doc04"},"PeriodicalIF":0.0,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12171976/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144318872","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 m.3243A>G variant affects not only islet, hair, or retinal ganglion cells, but all cells.","authors":"Josef Finsterer","doi":"10.3205/oc000251","DOIUrl":"10.3205/oc000251","url":null,"abstract":"","PeriodicalId":73178,"journal":{"name":"GMS ophthalmology cases","volume":"15 ","pages":"Doc03"},"PeriodicalIF":0.0,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12171974/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144318874","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":"Typical presentation of autosomal recessive oculocutaneous albinism in two siblings.","authors":"Prateek Nishant, Naila Aftab, Bhawesh Saha, Amit Raj","doi":"10.3205/oc000249","DOIUrl":"10.3205/oc000249","url":null,"abstract":"<p><strong>Objective: </strong>We report the case history and clinical findings in two siblings, a 13-year-old male and a 10-year-old female, who presented with complaints of poor vision since childhood. Both children had blonde hair and depigmented skin.</p><p><strong>Methods: </strong>Ocular examination revealed white eyebrows, white eyelashes, diminished vision in all eyes, hypochromic irides and pendular nystagmus. On dilated fundus examination, hypopigmented fundi with conspicuously visible choroidal vessels were noted. No foveolar reflex could be discerned and spectral domain optical coherence tomography (SD-OCT) of the macula showed an absence of the foveal pit in all four eyes. On pedigree charting the subjects were the 2^nd and 3^rd offspring of a non-consanguineous married couple. One of the mother's siblings and one of the grandmother's siblings also had a similar disorder.</p><p><strong>Results: </strong>The poor definition of the foveal pit at the centre of the macula, i.e. foveal hypoplasia, accounted for poor visual acuity and nystagmus. Both cases had no syndromic associations. Spectacle correction was prescribed to both children, and low-vision aids and sun protection advised.</p><p><strong>Conclusion: </strong>Oculocutaneous albinism (OCA) represents a range of inherited, congenital disorders of hypomelanosis, involving the skin, hair, and eyes with an estimated prevalence of 1 in 17,000 cases. Affected children suffer severe visual disability while early identification may potentially mitigate it, hence there is need to sensitize primary care practitioners regarding the general symptoms of OCA.</p>","PeriodicalId":73178,"journal":{"name":"GMS ophthalmology cases","volume":"15 ","pages":"Doc01"},"PeriodicalIF":0.0,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101471/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144144790","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}