American Journal of Ophthalmology Case Reports最新文献

Successful treatment of bilateral familial iris flocculi associated with aortic valve abnormalities 双侧家族性虹膜絮凝伴主动脉瓣异常的成功治疗

American Journal of Ophthalmology Case Reports Pub Date : 2025-07-12 DOI: 10.1016/j.ajoc.2025.102386

Liam D. Redden , Hesham Lakosha , Kamran M. Riaz

{"title":"Successful treatment of bilateral familial iris flocculi associated with aortic valve abnormalities","authors":"Liam D. Redden , Hesham Lakosha , Kamran M. Riaz","doi":"10.1016/j.ajoc.2025.102386","DOIUrl":"10.1016/j.ajoc.2025.102386","url":null,"abstract":"<div><h3>Purpose</h3><div>To report a case of familial iris flocculi in siblings associated with a possibly life-threatening aortic valve manifestation due to a smooth muscle alpha-actin 2 (<em>ACTA2</em>) gene variant and demonstrate successful treatment of iris flocculi with laser.</div></div><div><h3>Observations</h3><div>Two biological siblings, a 21-year-old male and a 24-year-old female, both presented with bilateral iris flocculi. The flocculi were causing visual disturbances for both patients. Treatment was provided in the form of yttrium aluminum garnet (YAG) laser to the cysts and remained stable at 2 year follow up. Cardiac investigations were launched and the female patient demonstrated a bicuspid aortic valve with a mildly dilated ascending aorta. Cardiac investigations for the male patient were normal. Gene sequencing revealed a pathogenic variant in the <em>ACTA2</em> gene.</div></div><div><h3>Conclusions and importance</h3><div>Bilateral iris flocculi is a rare ocular condition that can demonstrate a familial component. Treatment of the cysts is required only when there are visual symptoms. We demonstrate successful long term treatment using Nd: YAG laser. There is a link between iris flocculi and a variant of <em>ACTA2</em> and/or the smooth muscle (<em>MYH11</em>) genes. Patients with iris flocculi should have careful cardiac assessment looking for aortic anomalies as well as gene sequencing. Family members should be made aware and investigated.</div></div>","PeriodicalId":7569,"journal":{"name":"American Journal of Ophthalmology Case Reports","volume":"39 ","pages":"Article 102386"},"PeriodicalIF":0.0,"publicationDate":"2025-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Biopsy-proven sarcoidosis lesion of the levator palpebrae superioris causing myogenic blepharoptosis 活检证实提上睑肌结节病病变引起肌源性上睑下垂

American Journal of Ophthalmology Case Reports Pub Date : 2025-07-12 DOI: 10.1016/j.ajoc.2025.102390

Kim A. Firn, Eman Hawy, Douglas J. Van Putten

{"title":"Biopsy-proven sarcoidosis lesion of the levator palpebrae superioris causing myogenic blepharoptosis","authors":"Kim A. Firn, Eman Hawy, Douglas J. Van Putten","doi":"10.1016/j.ajoc.2025.102390","DOIUrl":"10.1016/j.ajoc.2025.102390","url":null,"abstract":"<div><h3>Purpose</h3><div>We describe a case of myogenic blepharoptosis due to sarcoidosis directly involving the levator palpebrae superioris, confirmed with biopsy.</div></div><div><h3>Observations</h3><div>A 43-year-old male with hypertension and hyperlipidemia presented with four months of progressive right blepharoptosis and two months of dry cough. Workup revealed elevated serum muramidase, hilar adenopathy, and bilateral lacrimal gland and right levator MRI enhancement. Both lacrimal gland biopsy and later levator biopsy were consistent with sarcoidosis.</div></div><div><h3>Conclusions and importance</h3><div>Most sarcoidosis-related blepharoptosis is secondary to Horner syndrome or mass effect from lacrimal gland enlargement. On literature review, we did not identify prior biopsy-confirmed direct involvement of the levator as a cause of sarcoidosis-related blepharoptosis. No cases were identified with isolated levator enhancement without involvement of other extraocular muscles. In this case, both the lacrimal gland and levator biopsies were consistent with sarcoidosis. It is possible that prior reports of sarcoidosis-related blepharoptosis secondary to lacrimal gland enlargement with positive biopsy were in fact due to direct co-involvement of the levator. The exact mechanism of sarcoidosis-related blepharoptosis impacts the proposed surgical intervention if indicated after failed medical therapy, and direct levator involvement should be considered prior to surgical planning.</div></div>","PeriodicalId":7569,"journal":{"name":"American Journal of Ophthalmology Case Reports","volume":"39 ","pages":"Article 102390"},"PeriodicalIF":0.0,"publicationDate":"2025-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Removal of subretinal strands without creating an intentional retinal hole: A case report 去除视网膜下链而不造成有意的视网膜孔：1例报告

American Journal of Ophthalmology Case Reports Pub Date : 2025-07-12 DOI: 10.1016/j.ajoc.2025.102388

Sonoko Sakata , Yoshihito Sakanishi , Kenji Inoue , Nobuyuki Ebihara

{"title":"Removal of subretinal strands without creating an intentional retinal hole: A case report","authors":"Sonoko Sakata , Yoshihito Sakanishi , Kenji Inoue , Nobuyuki Ebihara","doi":"10.1016/j.ajoc.2025.102388","DOIUrl":"10.1016/j.ajoc.2025.102388","url":null,"abstract":"<div><h3>Background</h3><div>Proliferative vitreoretinopathy (PVR) is a severe vitreoretinal disease. In cases of PVR with subretinal strands (SRS), creating an intentional retinal hole is typically necessary for removing SRS during vitrectomy. Herein, we describe a novel surgical approach for managing total retinal detachment (RD) with SRS.</div></div><div><h3>Case report</h3><div>A 59-year-old man presented with vision loss in the right eye persisting for four years before the initial presentation. Visual acuity was limited to light perception. The right eye had a mature cataract, and ultrasound computed tomography indicated total retinal detachment. Consequently, combined cataract surgery and vitrectomy were performed on the right eye. After cataract surgery, vitrectomy was performed using a 27-gauge, four-port system. SRS were identified in all quadrants. A fifth port was created approximately 12 mm from the corneal limbus, facilitating the removal of SRS without an intentional retinal hole. Almost all the SRS were successfully removed through this port using vitreous forceps. Postoperatively, the fundus remained stable without complications such as choroidal hemorrhage. No retinal re-detachment was observed during 13 months of follow-up.</div></div><div><h3>Conclusion</h3><div>The subretinal port provided an effective means of removing SRS without creating an intentional retinal hole in this case of total RD with SRS. This technique could be applicable to similar cases of total RD.</div></div>","PeriodicalId":7569,"journal":{"name":"American Journal of Ophthalmology Case Reports","volume":"39 ","pages":"Article 102388"},"PeriodicalIF":0.0,"publicationDate":"2025-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655831","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The use of trypan blue to distinguish Pseudo-Seidel sign from lacrimal ductule versus glaucoma drainage device leakage 台盼蓝鉴别泪道小管伪赛德尔征与青光眼引流器渗漏

American Journal of Ophthalmology Case Reports Pub Date : 2025-07-12 DOI: 10.1016/j.ajoc.2025.102389

Hamidah Mahmud , Yeabsira Mesfin , Yingna Liu , Yvonne Ou , Jonathan E. Lu

{"title":"The use of trypan blue to distinguish Pseudo-Seidel sign from lacrimal ductule versus glaucoma drainage device leakage","authors":"Hamidah Mahmud , Yeabsira Mesfin , Yingna Liu , Yvonne Ou , Jonathan E. Lu","doi":"10.1016/j.ajoc.2025.102389","DOIUrl":"10.1016/j.ajoc.2025.102389","url":null,"abstract":"<div><h3>Introduction</h3><div>The superotemporal fornix location of the lacrimal gland ductule openings coincides with the typical locations of glaucoma drainage devices; as a result, a conjunctival fistula may look and behave like a lacrimal gland ductule. External morphology and Seidel test are helpful in identifying fluid flow but cannot differentiate the fluid as aqueous humor or tears. We describe a novel technique in differentiating a lacrimal gland ductule from a conjunctival fistula secondary to a glaucoma drainage device.</div></div><div><h3>Case presentation</h3><div>An 87-year-old female with a superotemporal Ahmed valve in the right eye presented with increased “tearing” over the past year, with concern for repeat tube exposure versus normal secretion from the lacrimal gland ductules. Difficulty in differentiation was further increased due to a regional conjunctival pedicled flap for previous tube exposure. Intra-operatively, trypan blue was injected into the anterior chamber of the right eye. The dye was visualized to track along the tube in the direction of the plate, and brisk flow was then observed at the conjunctival area of ambiguity. This confirmed that fluid leakage was due to a glaucoma drainage device-associated conjunctival fistula. The plate and tube were subsequently removed.</div></div><div><h3>Conclusions</h3><div>Intraocular injection of trypan blue dye was effective in identifying glaucoma drainage device leakage from tube exposure, and specifically allowing clear differentiation from physiologic lacrimal gland flow. This novel technique successfully differentiated a leaking conjunctival fistula requiring treatment from a benign physiologic finding, in a case where topical fluorescein testing was not sufficient.</div></div>","PeriodicalId":7569,"journal":{"name":"American Journal of Ophthalmology Case Reports","volume":"39 ","pages":"Article 102389"},"PeriodicalIF":0.0,"publicationDate":"2025-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Therapeutic potential of allogeneic iPS cell-derived RPE transplantation for RPE65-LCA 异体iPS细胞来源的RPE移植治疗RPE65-LCA的潜力

American Journal of Ophthalmology Case Reports Pub Date : 2025-07-09 DOI: 10.1016/j.ajoc.2025.102383

Akiko Maeda , Daiki Sakai , Satoshi Yokota , Midori Yamamoto , Sunao Sugita , Yasuhiko Hirami , Michiko Mandai , Tadao Maeda , Masayo Takahashi , Yasuo Kurimoto

{"title":"Therapeutic potential of allogeneic iPS cell-derived RPE transplantation for RPE65-LCA","authors":"Akiko Maeda , Daiki Sakai , Satoshi Yokota , Midori Yamamoto , Sunao Sugita , Yasuhiko Hirami , Michiko Mandai , Tadao Maeda , Masayo Takahashi , Yasuo Kurimoto","doi":"10.1016/j.ajoc.2025.102383","DOIUrl":"10.1016/j.ajoc.2025.102383","url":null,"abstract":"<div><h3>Purpose</h3><div>To evaluate the safety and therapeutic effects of induced pluripotent stem (iPS) cell-derived retinal pigment epithelium (RPE) transplantation for <em>RPE65</em>-associated Leber congenital amaurosis (<em>RPE6</em>5-LCA).</div></div><div><h3>Observations</h3><div>A 46-year-old male patient with <em>RPE6</em>5-LCA underwent allogeneic iPS cell-derived RPE transplantation. The patient's best-corrected visual acuity (VA) prior to treatment was 2.0 (logMAR). A cell suspension of iPS cell-derived RPE was transplanted into the subretinal space. On day 15 post-transplantation, intraocular pressure (IOP) increased to 46 mmHg due to local steroid treatment, resulting in a decrease in VA to light perception (LP). Retinal imaging on day 71 revealed that most transplanted cells had migrated and formed an epiretinal membrane (ERM). The ERM was surgically removed on day 112. Two years post-transplantation, the patient reported improved vision, with VA improving to 1.4 (logMAR) from LP. Full-field stimulus testing (FST) and microperimetry demonstrated increased retinal sensitivity. These improvements have been maintained for up to 4 years post-treatment.</div></div><div><h3>Conclusions and importance</h3><div>Although this case raised safety concerns regarding the use of cell suspension for RPE transplantation, RPE transplantation may still serve as a potential therapeutic option for patients with <em>RPE65</em>-associated retinopathy, particularly those who are not eligible or older age for <em>RPE65</em> gene therapy.</div></div>","PeriodicalId":7569,"journal":{"name":"American Journal of Ophthalmology Case Reports","volume":"39 ","pages":"Article 102383"},"PeriodicalIF":0.0,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144611581","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Subconjunctival dexamethasone implant (Ozurdex) for peripheral ulcerative keratitis 结膜下地塞米松植入治疗周围性溃疡性角膜炎

American Journal of Ophthalmology Case Reports Pub Date : 2025-07-09 DOI: 10.1016/j.ajoc.2025.102379

Hashem H. Ghoraba, Chris Or, Aneesha Ahluwalia, Bethlehem Mekonnen, Cigdem Yasar, Negin Yavari, Quan Dong Nguyen

引用次数: 0

Macular hole closure following treatment of bilateral diffuse uveal melanocytic proliferation (BDUMP) with intravitreal methotrexate and systemic chemotherapy 玻璃体内甲氨蝶呤和全身化疗治疗双侧弥漫性葡萄膜黑色素细胞增生（BDUMP）后黄斑孔闭合

American Journal of Ophthalmology Case Reports Pub Date : 2025-07-08 DOI: 10.1016/j.ajoc.2025.102382

Arthur S. Zupelli , Victor C.F. Bellanda , João Victor N. Arcanjo , Fernando Chahud , Raul N.G. Vianna , Rodrigo Jorge

{"title":"Macular hole closure following treatment of bilateral diffuse uveal melanocytic proliferation (BDUMP) with intravitreal methotrexate and systemic chemotherapy","authors":"Arthur S. Zupelli , Victor C.F. Bellanda , João Victor N. Arcanjo , Fernando Chahud , Raul N.G. Vianna , Rodrigo Jorge","doi":"10.1016/j.ajoc.2025.102382","DOIUrl":"10.1016/j.ajoc.2025.102382","url":null,"abstract":"<div><h3>Purpose</h3><div>This report presents an unusual case of bilateral diffuse uveal melanocytic proliferation (BDUMP) associated with a macular hole that resolved after choroidal thinning following intravitreal methotrexate and systemic chemotherapy.</div></div><div><h3>Case report</h3><div>A 78-year-old male presented with progressive visual deterioration, significant weight loss and dyspnea. Ophthalmologic examination revealed multiple elevated yellowish-white lesions and few vitreous cells in both eyes, with a macular hole in the left eye. Optical coherence tomography showed subretinal fluid, hyperreflective lesions and choroidal irregularities at posterior pole in both eyes. Systemic screening revealed a pulmonary nodule, prompting further investigation. A pleural biopsy disclosed diffuse infiltration by mature-looking lymphocytes, positive for CD20 and BCL-2, indicating a marginal zone B-cell lymphoma. The patient received systemic chemotherapy and off-label intravitreal methotrexate injections. Notably, the macular hole in the left eye spontaneously closed following treatment, leading to significant visual improvement.</div></div><div><h3>Discussion</h3><div>BDUMP poses diagnostic and therapeutic challenges necessitating a multidisciplinary approach. This case is notable for the mechanism of macular hole closure after intravitreal methotrexate and choroidal thinning. We believe that systemic chemotherapy also played an effective role in ocular symptoms management.</div></div>","PeriodicalId":7569,"journal":{"name":"American Journal of Ophthalmology Case Reports","volume":"39 ","pages":"Article 102382"},"PeriodicalIF":0.0,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144632737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Vitreoretinal lymphoma presenting as amaurosis fugax 玻璃体视网膜淋巴瘤表现为烟性黑朦

American Journal of Ophthalmology Case Reports Pub Date : 2025-07-08 DOI: 10.1016/j.ajoc.2025.102380

Andreas Arnold-Vangsted , Tomas Ilginis , Jens Folke Kiilgaard , Steffen Heegaard , Carsten Faber

引用次数: 0

Preserflo™ microshunt for the treatment of refractory childhood glaucoma: A case series study Preserflo™微分流治疗难治性儿童青光眼：病例系列研究

American Journal of Ophthalmology Case Reports Pub Date : 2025-07-08 DOI: 10.1016/j.ajoc.2025.102384

Yuri Tanaka , Shiho Kasahara , Ryo Tomita , Norie Nonobe , Kazuhide Kawase , Kenya Yuki

{"title":"Preserflo™ microshunt for the treatment of refractory childhood glaucoma: A case series study","authors":"Yuri Tanaka , Shiho Kasahara , Ryo Tomita , Norie Nonobe , Kazuhide Kawase , Kenya Yuki","doi":"10.1016/j.ajoc.2025.102384","DOIUrl":"10.1016/j.ajoc.2025.102384","url":null,"abstract":"<div><h3>Purpose</h3><div>We report the outcomes of five patients with pediatric glaucoma, who were treated with Preserflo™ microshunt surgery.</div></div><div><h3>Methods</h3><div>This prospective study included five consecutive patients who underwent Preserflo™ microshunt surgery at the Nagoya University Hospital. The main outcome measures evaluated in this study were mean intraocular pressure (IOP), number of glaucoma medications, and best corrected visual acuity (BCVA). Paired t-tests with Bonferroni correction were used to compare the baseline and follow-up periods, where p < 0.05 was considered statistically significant.</div></div><div><h3>Results</h3><div>Average age at the time of surgery was 10 ± 4 years. Three patients had primary congenital glaucoma, one had Sturge-Weber syndrome, and one had juvenile open-angle glaucoma. Preoperative average IOP was 37.6 ± 4.7 mmHg. After microshunt surgery, IOP significantly decreased to 6.3 ± 1.2 mmHg in 1 day, 6.6 ± 1.7 mmHg in 1 week, 9.6 ± 6.1 mmHg in 1 month, 12.0 ± 7.4 mmHg in 3 months, 10.0 ± 5.2 mmHg in 6 months, 14.2 ± 8.7 mmHg in 9 months, and 10.5 ± 6.5 mmHg in 1 year (p < 0.01 for each paired <em>t</em>-test). One year postoperatively, we placed a Baerveldt glaucoma implant in case 1. No significant change was observed between the pre- and post-operative periods in BCVA. No postoperative complications, including choroidal detachment, shallow or flat anterior chamber, hypotony maculopathy, or conjunctival leak, were observed in this case series.</div></div><div><h3>Conclusion</h3><div>Microshunt surgery may be a useful option for treating glaucoma in pediatric patients, in whom trabeculotomy failed.</div></div>","PeriodicalId":7569,"journal":{"name":"American Journal of Ophthalmology Case Reports","volume":"39 ","pages":"Article 102384"},"PeriodicalIF":0.0,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144604094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Tay-Sachs disease in a child of indigenous Guatemalan-Mayan origin with macular brown spots and perifoveal whitening 土著危地马拉-玛雅裔儿童患泰-萨克斯病，伴有黄斑棕色斑点和凹周白斑

American Journal of Ophthalmology Case Reports Pub Date : 2025-07-08 DOI: 10.1016/j.ajoc.2025.102381

Mya Abousy , Lauren Hucko , Audina Berrocal , Erick Vinicio Saenz

{"title":"Tay-Sachs disease in a child of indigenous Guatemalan-Mayan origin with macular brown spots and perifoveal whitening","authors":"Mya Abousy , Lauren Hucko , Audina Berrocal , Erick Vinicio Saenz","doi":"10.1016/j.ajoc.2025.102381","DOIUrl":"10.1016/j.ajoc.2025.102381","url":null,"abstract":"<div><h3>Purpose</h3><div>This report describes an unusual macular presentation of Tay-Sachs disease in a two-year-old female of Guatemalan-Mayan origin. This case serves to build upon the very limited literature regarding ophthalmic manifestations of Tay-Sachs disease in the non-Caucasian population.</div></div><div><h3>Observations</h3><div>The patient and family presented with concern for poor visual acuity and hyperacusis. A brown macular spot with perifoveal whitening was identified in both eyes on fundus examination. Laboratory studies revealed low hexosaminidase A levels, which confirmed the diagnosis of Tay-Sachs disease.</div></div><div><h3>Conclusions and importance</h3><div>This is an extremely rare case of Tay-Sachs disease in a patient of Guatemalan-Mayan origin diagnosed by enzyme studies and fundus examination. Further, it is one of the few documented cases of “brown spots” appreciated in association with Tay-Sachs disease, as opposed to the classic “cherry red spot”. This case presentation challenges the nomenclature of the “cherry red spot” to account for the variations in the fundus that may occur in different racial and ethnic groups that present with Tay-Sachs disease.</div></div>","PeriodicalId":7569,"journal":{"name":"American Journal of Ophthalmology Case Reports","volume":"39 ","pages":"Article 102381"},"PeriodicalIF":0.0,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144611927","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0