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Secondary Ocular Hypertension with Exophthalmos as the First Presentation of Endogenous Cushing's Syndrome. 继发性高眼压伴眼球突出为内源性库欣综合征的首发表现。
IF 0.5 Q4 OPHTHALMOLOGY Pub Date : 2025-05-20 eCollection Date: 2025-01-01 DOI: 10.1159/000546434
Thanatporn Threetong, Sasikant Leelawongs

Introduction: Cushing's syndrome results from excessive exposure to exogenous or endogenous steroid, while cushing's disease is hypercortisolism from an adrenocorticotropic hormone-secreting pituitary adenoma. Secondary ocular hypertension (OHT) accompanied by exophthalmos as the initial presentation of endogenous Cushing's syndrome has rarely been reported.

Case presentation: A 46-year-old Thai woman was referred for OHT treatment despite maximum tolerance to medication. Intraocular pressure (IOP) was 21 mm Hg (right eye) and 25 mm Hg (left eye). Visual acuity was 20/20 in both eyes. Bilateral eyelids were swollen without any palpable masses. Exophthalmometer measurements were 24 mm (right eye) and 23 mm (left eye). Extraocular muscle movements, anterior segment, gonioscopy, and dilated fundoscopic exams were normal bilaterally. Optic nerve head was unremarkable in both eyes. Optical coherence tomography showed marginal inferior thinning of the retinal nerve fiber layer and ganglion cell layer in left eye. Computerized visual field 24-2 was normal bilaterally. She was diagnosed with secondary OHT with exophthalmos in both eyes. Thyroid function and thyroid antibody tests were unremarkable. Orbital and brain computed tomography revealed exophthalmos with an increase of retrobulbar fat bilaterally and a hypodense pituitary lesion. She was diagnosed with Cushing's disease and underwent endoscopic transsphenoidal adenectomy. At 6-month postoperatively, IOP decreased to 16 mm Hg (right eye) and 17 mm Hg (left eye), without any IOP-lowering medications. Exophthalmos also improved as exophthalmometer measurements were 20 mm (right eye) and 19 mm (left eye).

Conclusions: Endogenous Cushing's syndrome should be included in the differential diagnosis of secondary OHT with exophthalmos.

简介:库欣综合征是由于过度暴露于外源性或内源性类固醇引起的,而库欣病是由促肾上腺皮质激素分泌的垂体腺瘤引起的高皮质醇症。继发性高眼压(OHT)伴随眼球突出作为内源性库欣综合征的最初表现很少被报道。病例介绍:一名46岁的泰国妇女被推荐接受OHT治疗,尽管对药物有最大的耐受性。眼内压(IOP)右眼21 mm Hg,左眼25 mm Hg。双眼视力均为20/20。双侧眼睑肿胀,未见肿块。突出眼计测量值分别为右眼24 mm和左眼23 mm。眼外肌运动、眼前节、角镜检查和眼底扩张镜检查均正常。双眼视神经头未见明显变化。光学相干断层扫描显示左眼视网膜神经纤维层和神经节细胞层边缘下变薄。计算机视野24-2双侧正常。她被诊断为继发性OHT,双眼突出。甲状腺功能及甲状腺抗体检查无明显差异。眼眶和脑部计算机断层显示眼球突出,双侧球后脂肪增加,垂体低密度病变。她被诊断为库欣病,并接受了内窥镜经蝶窦腺切除术。术后6个月,在没有任何降眼压药物的情况下,IOP分别降至右眼16 mm Hg和左眼17 mm Hg。当凸眼计测量值分别为20 mm(右眼)和19 mm(左眼)时,凸眼也得到改善。结论:内源性库欣综合征应纳入继发性OHT伴突出眼的鉴别诊断。
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引用次数: 0
Monkeypox-Related Keratitis: Case Series. 猴痘相关性角膜炎:病例系列。
IF 0.6 Q4 OPHTHALMOLOGY Pub Date : 2025-05-20 eCollection Date: 2025-01-01 DOI: 10.1159/000546007
Anan Aljawi, Manal Alwazae, Rafaa Babgi, Abdullah M Khan, Rawan Alshabeeb, Mohammed Alamry

Introduction: The aim of the study was to investigate the ophthalmic manifestations and management of a series of patients with monkeypox-related keratitis.

Case presentation: Two cases diagnosed with monkeypox-related keratitis were reviewed. The first case was for a young lady who presented to the emergency room with ring shape infiltration after a history of body rash. While the second case was for a child who presented to the emergency room with a picture of viral conjunctivitis along with body rash; then, he developed ring-shaped corneal infiltrate. Both patients were diagnosed through viral PCR and treated successfully with antiviral therapy.

Conclusion: Monkeypox-related keratitis is a rare but potentially sight-threatening complication of monkeypox infection. Early recognition and appropriate management are essential in order to minimize the risk of permanent vision loss.

摘要本研究旨在探讨猴痘相关性角膜炎患者的眼部表现及治疗。病例介绍:本文回顾了两例确诊为猴痘相关性角膜炎的病例。第一个病例是一名年轻女士,她在身体皮疹病史后出现环状浸润。第二例是一名儿童,他带着病毒性结膜炎和身体皮疹的照片来到急诊室;然后,他出现了环状角膜浸润。两例患者均通过病毒聚合酶链反应确诊,并经抗病毒治疗成功。结论:猴痘相关性角膜炎是一种罕见但有潜在视力威胁的猴痘感染并发症。为了尽量减少永久性视力丧失的风险,早期识别和适当的管理是必不可少的。
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引用次数: 0
Fungal Keratitis following the Application of Green Tea Bag Warm Compresses. 使用绿茶包热敷后的真菌性角膜炎。
IF 0.5 Q4 OPHTHALMOLOGY Pub Date : 2025-05-09 eCollection Date: 2025-01-01 DOI: 10.1159/000546055
Nir Erdinest, Abraham Solomon, Itay Lavy, Naomi London, Denise Wajnsztajn

Introduction: This case presents the development of severe fungal keratitis sourced from a green tea bag used as an ocular warm compress.

Case presentation: A 29-year-old healthy patient developed a deep stromal fungal keratitis in his left eye 2 weeks after utilizing a green tea bag as a warm compress to improve meibomian gland dysfunction that ruptured over his eye. Treatment of infection included topical and intrastromal injections of voriconazole. Topical treatment was maintained after hospital discharge for 10 months. Follow-ups were continued until the complete resolution of active infection. Final corrected visual acuity was 0.7 (LogMAR, 0.3 pinhole), and there was residual corneal scarring.

Conclusion: Warm compresses are a first-line treatment for meibomian gland disorders. Although application of warm tea bags over the eyelids appears to be an economical and accessible option, this method should be carefully considered due to the risk of fungal keratitis development.

本病例介绍了严重的真菌性角膜炎的发展,其来源是用作眼部热敷的绿茶包。病例介绍:一名29岁的健康患者在使用绿茶包热敷以改善眼部破裂的睑板腺功能障碍2周后,左眼发生深部间质真菌性角膜炎。感染的治疗包括局部和眼内注射伏立康唑。出院后维持局部治疗10个月。继续随访,直到活动性感染完全消除。最终矫正视力为0.7 (LogMAR, 0.3针孔),角膜瘢痕残留。结论:热敷是治疗睑板腺疾病的一线治疗方法。尽管将热茶包敷在眼睑上似乎是一种经济且方便的选择,但由于真菌性角膜炎发展的风险,这种方法应该仔细考虑。
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引用次数: 0
Optical Coherence Tomography of a Folded Amniotic Membrane over a Macular Hole. 黄斑孔上折叠羊膜的光学相干断层扫描。
IF 0.5 Q4 OPHTHALMOLOGY Pub Date : 2025-05-09 eCollection Date: 2025-01-01 DOI: 10.1159/000546057
Lucas Sejournet, Thibaud Mathis, Victor Vermot-Desroches, Rita Serra, Laurent Kodjikian

Introduction: Placental-derived amniotic membranes (AM) can be used for both macular holes (MHs) and corneal defects. Here, we present a short report of a recurrent full thickness MH treated with a folded AM graft.

Case presentation: Best corrected visual acuity improved from 35 letters after MH recurrence to 55 letters after second surgery. Despite the folding and the large size of the AM, optical coherence tomography confirmed the closure of the MH without significant symptom.

Conclusion: This report presents the results of the use of a large folded AM, which showed favourable results in terms of visual acuity improvement and successful MH closure, with no adverse effects observed.

简介:胎盘源性羊膜(AM)可用于黄斑孔(MHs)和角膜缺陷。在这里,我们提出一个简短的报告,复发的全层MH治疗折叠的AM移植物。病例介绍:最佳矫正视力由复发后的35个字母提高到第二次手术后的55个字母。尽管折叠且AM尺寸较大,光学相干断层扫描证实MH闭合,无明显症状。结论:本报告介绍了使用大型折叠AM的结果,在视力改善和成功闭合MH方面显示了良好的结果,没有观察到不良反应。
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引用次数: 0
Transient Unilateral Sixth Nerve Palsy in a Child following General Anesthesia: A Case Report. 儿童全麻后一过性单侧第六神经麻痹1例。
IF 0.5 Q4 OPHTHALMOLOGY Pub Date : 2025-05-09 eCollection Date: 2025-01-01 DOI: 10.1159/000546210
Ruba Saleh Alghofaili

Introduction: Transient sixth cranial (abducens) nerve palsy is uncommon, especially in children, in whom it can herald serious underlying pathology. Sixth nerve palsy has been reported after spinal anesthesia and lumbar puncture and, in very rare cases, after complicated general anesthesia or ocular muscle procedures. Acute strabismus in children is always a concerning occurrence for both parents and clinicians, so an accurate record of documented etiologies is essential to guide appropriate management and to reassure the parents.

Case presentation: Here we report the first case of transient unilateral sixth nerve palsy following general anesthesia for a non-ocular surgical procedure (adenoidectomy) in a 5-year-old child. Ocular motility assessment confirmed right-sided abducens nerve palsy and MRI excluded underlying pathology. The right eye movement gradually improved over the following 2 weeks and the child made a full recovery.

Conclusion: Given the favorable prognosis, watchful waiting is an appropriate management strategy provided that the more common sinister causes of sixth nerve palsy have been carefully excluded.

简介:短暂性第六颅(外展)神经麻痹并不常见,特别是在儿童中,这可能预示着严重的潜在病理。第六神经麻痹有脊髓麻醉和腰椎穿刺后的报道,在非常罕见的情况下,在复杂的全身麻醉或眼肌手术后。儿童急性斜视一直是家长和临床医生关注的问题,因此准确的病因记录对于指导适当的治疗和让家长放心至关重要。病例介绍:在这里,我们报告了第一例5岁儿童在非眼部手术(腺样体切除术)全身麻醉后发生的一过性单侧第六神经麻痹。眼动评估证实右侧外展神经麻痹,MRI排除了潜在病理。2周后,患儿右眼运动逐渐改善,完全康复。结论:考虑到良好的预后,观察等待是一种适当的治疗策略,前提是仔细排除更常见的第六神经麻痹的险恶原因。
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引用次数: 0
Hypertensive Disc Edema or Ocular Syphilis? A Case Report of the Great Masquerader. 高血压椎间盘水肿还是眼梅毒?大假面舞会的个案报告。
IF 0.5 Q4 OPHTHALMOLOGY Pub Date : 2025-05-02 eCollection Date: 2025-01-01 DOI: 10.1159/000545491
Nicole Oska, Michael Saad, Hassan Tokko

Introduction: Ocular syphilis is a rare manifestation of syphilis caused by Treponema pallidum which can occur at any stage of infection. It most commonly presents as posterior or panuveitis but can involve various ocular structures, complicating diagnosis.

Case presentation: We describe a case of a 38-year-old female with a 7-month history of progressive blurry vision, floaters, flashes, and photophobia. Upon presentation to the emergency department, the patient's symptoms were initially attributed to a hypertensive emergency given fundoscopic examination revealing of optic disc edema. Despite resolution of hypertensive episode, the patient's symptoms persisted and she presented to our ophthalmology clinic where optical coherence tomography (OCT) showed ellipsoid zone disruption and hyperreflective deposits. Routine screening done at the emergency department for sexually transmitted infections indicated infection with syphilis and human immunodeficiency virus (HIV), for which the patient was instructed to return to the hospital for treatment. Cerebrospinal fluid (CSF) analysis confirmed diagnosis of neurosyphilis, and the patient was treated with 14 days of intravenous penicillin G.

Conclusion: This case highlights the diagnostic challenges posed by ocular syphilis, especially when overshadowed by other conditions like hypertension. This patient's atypical presentation of optic neuritis without uveitis underscores the necessity of considering ocular syphilis in patients with chronic unexplained visual changes, particularly in high-risk populations.

简介:眼梅毒是由梅毒螺旋体引起的梅毒的一种罕见表现,可发生在感染的任何阶段。它最常表现为后膜炎或全膜炎,但可累及多种眼部结构,使诊断复杂化。病例报告:我们描述了一个38岁的女性病例,她有7个月的进行性视力模糊、飞蚊、闪光和畏光的病史。在被送到急诊科后,患者的症状最初归因于高血压急症,因为眼底镜检查显示视盘水肿。尽管高血压发作得到缓解,但患者的症状持续存在,她来到我们的眼科诊所,光学相干断层扫描(OCT)显示椭球带破裂和高反射沉积。在急诊科对性传播感染进行的例行检查表明,患者感染了梅毒和人类免疫缺陷病毒(HIV),并被指示返回医院接受治疗。脑脊液(CSF)分析证实诊断为神经梅毒,并给予14天静脉注射青霉素g。结论:本病例突出了眼梅毒的诊断挑战,特别是在高血压等其他疾病的掩盖下。该患者视神经炎无葡萄膜炎的不典型表现强调了在慢性不明原因的视力改变患者中考虑眼梅毒的必要性,特别是在高危人群中。
{"title":"Hypertensive Disc Edema or Ocular Syphilis? A Case Report of the Great Masquerader.","authors":"Nicole Oska, Michael Saad, Hassan Tokko","doi":"10.1159/000545491","DOIUrl":"10.1159/000545491","url":null,"abstract":"<p><strong>Introduction: </strong>Ocular syphilis is a rare manifestation of syphilis caused by <i>Treponema pallidum</i> which can occur at any stage of infection. It most commonly presents as posterior or panuveitis but can involve various ocular structures, complicating diagnosis.</p><p><strong>Case presentation: </strong>We describe a case of a 38-year-old female with a 7-month history of progressive blurry vision, floaters, flashes, and photophobia. Upon presentation to the emergency department, the patient's symptoms were initially attributed to a hypertensive emergency given fundoscopic examination revealing of optic disc edema. Despite resolution of hypertensive episode, the patient's symptoms persisted and she presented to our ophthalmology clinic where optical coherence tomography (OCT) showed ellipsoid zone disruption and hyperreflective deposits. Routine screening done at the emergency department for sexually transmitted infections indicated infection with syphilis and human immunodeficiency virus (HIV), for which the patient was instructed to return to the hospital for treatment. Cerebrospinal fluid (CSF) analysis confirmed diagnosis of neurosyphilis, and the patient was treated with 14 days of intravenous penicillin G.</p><p><strong>Conclusion: </strong>This case highlights the diagnostic challenges posed by ocular syphilis, especially when overshadowed by other conditions like hypertension. This patient's atypical presentation of optic neuritis without uveitis underscores the necessity of considering ocular syphilis in patients with chronic unexplained visual changes, particularly in high-risk populations.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"16 1","pages":"346-352"},"PeriodicalIF":0.5,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12121978/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144180812","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}
引用次数: 0
Early Drainage of Macula-Involving Massive Suprachoroidal Haemorrhage Assisted with Recombinant Tissue Plasminogen Activator May Lead to Better Visual Prognosis. 重组组织型纤溶酶原激活剂辅助下早期引流累及黄斑的脉络膜上大出血可改善视力预后。
IF 0.5 Q4 OPHTHALMOLOGY Pub Date : 2025-05-02 eCollection Date: 2025-01-01 DOI: 10.1159/000545290
Mostafa Khalil, Matt Schneiders, Marc Veckeneer, Jozef A Depla, Eric Feron, Shohista Saidkasimova

Introduction: A massive suprachoroidal haemorrhage (SCH) is a devastating complication with significant morbidity and poor visual and anatomic outcome. Conventional management is to observe for 7-14 days before surgical drainage. However, permanent structural changes in the retina can occur within this timeframe. Suprachoroidal injection of recombinant tissue plasminogen activator (TPA) may speed up clot breakdown and aid early surgical drainage. We present a case series of macula-involving massive SCH (MSCH) treated with early drainage aided by recombinant tissue plasminogen activator (r-tPA).

Case presentation: Retrospective case series of 3 patients with macula-involving MSCH treated with suprachoroidal r-tPA within 24 h of bleed and early drainage of SCH within 48 h of r-tPA injection, combined with vitrectomy and tamponade. 100 µg of recombinant TPA was injected into the SCH 24 h following initial injury in all patients. Drainage of the SCH was then performed 6-48 h after the injection of r-tPA. Early drainage was successful and visual improvement was seen in all patients. One patient had a recurrence of SCH but was successfully re-treated.

Conclusion: The technique of r-tPA-assisted early drainage of SCH is safe and has promising potential to restore visual function in patients with macula-involving MSCH. Our small sample would indicate that 100 μg/0.4 mL of r-tPA injected within 24 h of bleed allows surgical drainage of SCH as early as day 2 post initial injury. Larger studies are required to investigate further which patients are likely to benefit from this treatment.

大量脉络膜上出血(SCH)是一种毁灭性的并发症,具有显著的发病率和不良的视觉和解剖结果。常规的处理方法是在手术引流前观察7-14天。然而,视网膜的永久性结构变化可能在这段时间内发生。脉络膜上注射重组组织型纤溶酶原激活剂(TPA)可加速血块分解,有助于早期手术引流。我们报告了一个病例系列,涉及黄斑块状SCH (MSCH)的早期引流辅助重组组织纤溶酶原激活剂(r-tPA)。病例介绍:回顾性分析3例累及黄斑的mscs患者,在出血后24小时内行脉络膜上r-tPA治疗,在注射r-tPA后48小时内早期引流,并联合玻璃体切除和填塞。所有患者均在初始损伤后24 h注射100µg重组TPA。注射r-tPA后6-48 h进行SCH引流。所有患者早期引流成功,视力均有改善。1例SCH复发,但再次成功治疗。结论:r- tpa辅助SCH早期引流技术是安全的,在恢复黄斑累及的mscs患者的视觉功能方面具有广阔的应用前景。我们的小样本表明,在出血24小时内注射100 μg/0.4 mL的r-tPA,可以在初次损伤后第2天手术引流SCH。需要更大规模的研究来进一步调查哪些患者可能从这种治疗中受益。
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引用次数: 0
Post-Operative Endophthalmitis following Routine Photorefractive Keratectomy. 常规光屈光性角膜切除术后眼内炎。
IF 0.5 Q4 OPHTHALMOLOGY Pub Date : 2025-04-29 eCollection Date: 2025-01-01 DOI: 10.1159/000546142
Barry Power, Michael Wang, Alexandra Z Crawford, Shanu Subbiah

Introduction: Endophthalmitis is an exceptionally rare but devastating complication following laser corneal refractive surgery.

Case presentation: We present a case of Pseudomonas aeruginosa endophthalmitis following routine myopic photorefractive keratectomy with mitomycin C application. The patient was referred to a tertiary ophthalmic service with severe post-operative infectious keratitis following initial management at another centre and was treated with intensive fortified antibiotics. The eye subsequently developed endophthalmitis with corneal perforation, necessitating urgent pars plan vitrectomy facilitated by a temporary keratoprosthesis and subsequent therapeutic penetrating keratoplasty. During anaesthetic induction, the patient developed anaphylaxis, most likely secondary to succinylcholine. Aggressive posterior positive pressure was encountered intra-operatively, resulting in spontaneous extrusion of the crystalline lens. We postulate that the posterior positive pressure was caused by several factors, including massive inflammation, and fluid shifts secondary to anaphylaxis and its associated management. The positive pressure was successfully managed and a keratoprosthesis was secured, allowing completion of vitrectomy and therapeutic penetrating keratoplasty. At 6-month follow-up, the vision remains at light perception.

Conclusion: Endophthalmitis is an exceptionally rare but devastating complication following laser corneal refractive surgery, and the use of mitomycin C might have contributed to the rapid progression observed in the current case. Our report also highlights that acute anaphylaxis and its management can lead to posterior positive pressure, and measures should be taken to reduce the potential impacts before intraocular surgery and full-thickness incisions are made.

眼内炎是激光角膜屈光手术后非常罕见但具有破坏性的并发症。病例报告:我们报告一例铜绿假单胞菌在常规近视屈光性角膜切除术后并发眼内炎。患者在另一中心接受初步治疗后,因术后严重感染性角膜炎被转诊至三级眼科,并接受强化抗生素治疗。眼球随后发展为眼内炎并角膜穿孔,需要通过临时角膜假体和随后的穿透性角膜移植术进行紧急玻璃体切除术。在麻醉诱导期间,患者出现过敏反应,很可能继发于琥珀酰胆碱。术中遇到严重的后路正压,导致晶状体自发挤压。我们推测后路正压是由多种因素引起的,包括大量炎症、继发于过敏反应的液体移位及其相关的处理。成功控制正压并固定角膜假体,完成玻璃体切除术和治疗性穿透性角膜移植术。随访6个月,视力仍为光感。结论:眼内炎是激光角膜屈光手术后非常罕见但具有破坏性的并发症,丝裂霉素C的使用可能促成了本病例的快速进展。我们的报告还强调急性过敏反应及其处理可导致后眼正压,在眼内手术和全层切口前应采取措施减少潜在的影响。
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引用次数: 0
A Case of Melanoma-Associated Retinopathy Presenting with Ocular Symptoms as the Initial Manifestation: A Case Report. 以眼部症状为首发表现的黑色素瘤相关视网膜病变1例
IF 0.5 Q4 OPHTHALMOLOGY Pub Date : 2025-04-26 eCollection Date: 2025-01-01 DOI: 10.1159/000545942
Bo Zhou, Guoqin Li, Shengbo Wang, Fang Zhou, Peng Wu

Introduction: Melanoma-associated retinopathy (MAR) is a distinct subset within the spectrum of retinal-dysfunction disorders. It is triggered by the cross-reaction between circulating antibodies originating from malignant melanoma (MM) and retinal antigens. The timely identification of paraneoplastic retinal diseases is crucial, as it can significantly contribute to the early diagnosis and treatment of underlying malignancies. Currently, increasing awareness of the early clinical manifestations of MAR is essential for clinicians to detect primary or metastatic MMs at an earlier stage.

Case presentation: This report details a case of a patient who initially presented with night blindness and visual field defects as the primary symptoms. Through a comprehensive and systematic examination process, which involved detailed ophthalmological examinations and multidisciplinary diagnostic approaches, esophageal, and cardia MM was ultimately diagnosed. The patient was referred to an external hospital for comprehensive antitumor management, and posttreatment, the patient self-reported a notable improvement compared to the pretreatment state.

Conclusion: The purpose of sharing this case is to clarify the early clinical manifestations of MAR. It is anticipated that this will prompt clinicians to enhance their vigilance and identify primary or metastatic MMs earlier. Early treatment of the primary disease not only has the potential to reduce the risk of irreversible immune-mediated damage to retinal cells but also to improve visual outcomes. This highlights the significance of early diagnosis and intervention in the management of such diseases, providing important reference for clinicians.

黑素瘤相关性视网膜病变(MAR)是视网膜功能障碍谱系中的一个独特子集。它是由恶性黑色素瘤(MM)和视网膜抗原的循环抗体之间的交叉反应引发的。及时识别副肿瘤视网膜疾病是至关重要的,因为它可以显著有助于早期诊断和治疗潜在的恶性肿瘤。目前,提高对MAR早期临床表现的认识对于临床医生早期发现原发性或转移性mm至关重要。病例介绍:本报告详细介绍了一例以夜盲症和视野缺损为主要症状的患者。通过全面系统的检查过程,包括详细的眼科检查和多学科诊断方法,最终诊断出食管和贲门MM。患者转诊至外院接受综合抗肿瘤治疗,治疗后患者自我报告较治疗前状态有明显改善。结论:分享本病例的目的是澄清mar的早期临床表现,期望这将促使临床医生提高警惕,尽早识别原发性或转移性mm。早期治疗原发疾病不仅有可能降低视网膜细胞不可逆转的免疫介导损伤的风险,而且还可以改善视力。这突出了早期诊断和干预在此类疾病管理中的意义,为临床医生提供了重要的参考。
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引用次数: 0
Female Simplex Carriers of X-Linked Retinal Dystrophies: A Case Series. x连锁视网膜营养不良的女性单纯性携带者:一个病例系列。
IF 0.5 Q4 OPHTHALMOLOGY Pub Date : 2025-04-26 eCollection Date: 2025-01-01 DOI: 10.1159/000546129
Adrienne Delaney, Kari E Branham, K Thiran Jayasundera, Naheed W Khan, Abigail T Fahim

Introduction: X-linked inherited retinal dystrophies (IRDs) lead to progressive vision loss in affected males and include choroideremia (CHM), X-linked retinitis pigmentosa (XLRP), and X-linked cone-rod dystrophy (XLCORD). Female carriers may be asymptomatic or manifest disease ranging from mild to severe. Due to the variable manifestation of disease in females, some pedigrees can appear autosomal dominant. However, female carriers presenting as simplex probands are rare and X-linked disease may not be suspected in these cases without genetic testing.

Case presentations: Three affected simplex CHM carriers and six affected simplex XLRP or XLCORD carriers due to variants in RPGR (n = 5) or RP2 (n = 1) were included. Best corrected visual acuity, color fundus photos, fundus autofluorescence (FAF), optical coherence tomography, electroretinography, and Goldmann visual fields were collected. X-chromosome inactivation (XCI) ratios were determined for 4 cases. Age of onset ranged from infancy to 43 years, with nyctalopia as the most common presenting symptom. 4 out of 5 cases with RPGR variants presented with cone or cone-rod dystrophies, while the remaining cases presented with rod-cone dystrophy. XCI analysis revealed extreme skewing in 2 cases who both presented with severe disease. 4 out of 7 cases with FAF demonstrated autofluorescence patterns classic for carrier status. The remaining 3 cases had severe disease and corresponding FAF patterns consistent with their severity.

Conclusion: The absence of family history does not preclude X-linked inheritance in females with retinal dystrophies. Multimodal imaging such as FAF and red-free photos should be included in the workup. As new therapeutic strategies are developed for CHM and RPGR-associated retinal degeneration, including gene therapy, it may become increasingly more important to diagnose symptomatic carriers, as it has been previously shown that earlier intervention is more effective in IRD populations.

简介:x连锁遗传性视网膜营养不良(IRDs)导致受影响男性的进行性视力丧失,包括脉络膜血症(CHM)、x连锁色素性视网膜炎(XLRP)和x连锁锥杆营养不良(XLCORD)。女性携带者可能无症状或表现出轻至严重的疾病。由于疾病在女性的可变表现,一些家系可以出现常染色体显性。然而,表现为单纯先证者的女性携带者是罕见的,在这些病例中,如果没有基因检测,可能不会怀疑x连锁疾病。病例介绍:包括三名受影响的单纯型CHM携带者和六名受影响的单纯型XLRP或XLCORD携带者,原因是RPGR (n = 5)或RP2 (n = 1)的变异。收集最佳矫正视力、彩色眼底照片、眼底自身荧光(FAF)、光学相干断层扫描、视网膜电图和Goldmann视野。测定4例患者x染色体失活率(XCI)。发病年龄从婴儿期到43岁不等,以夜盲症为最常见的表现症状。4 / 5的RPGR变异体表现为锥体或锥杆营养不良,其余病例表现为杆状-锥体营养不良。XCI分析显示,在2例均表现为严重疾病的病例中,出现了极端倾斜。7例FAF患者中有4例表现出典型的载体状态的自身荧光模式。其余3例病情严重,FAF类型与其严重程度相符。结论:无家族史不能排除视网膜营养不良女性的x连锁遗传。多模式成像,如FAF和无红色的照片应包括在工作中。随着CHM和rgr相关视网膜变性的新治疗策略的发展,包括基因治疗,诊断有症状的携带者可能变得越来越重要,因为之前已经表明早期干预在IRD人群中更有效。
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Case Reports in Ophthalmology
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