Case Reports in Ophthalmology最新文献_第9页

Reversible Nyctalopia and Bilateral Optic Neuropathy due to Combined Vitamin A, Zinc, and Copper Deficiency: A Case Report. 合并维生素 A、锌和铜缺乏症导致的可逆性内斜视和双侧视神经病变：病例报告。

IF 0.5

Case Reports in Ophthalmology Pub Date : 2024-07-15 eCollection Date: 2024-01-01 DOI: 10.1159/000537830

Anshul Bhatnagar, Noor Laylani, Pamela Davila-Siliezar, Hilary A Beaver, Andrew G Lee

{"title":"Reversible Nyctalopia and Bilateral Optic Neuropathy due to Combined Vitamin A, Zinc, and Copper Deficiency: A Case Report.","authors":"Anshul Bhatnagar, Noor Laylani, Pamela Davila-Siliezar, Hilary A Beaver, Andrew G Lee","doi":"10.1159/000537830","DOIUrl":"10.1159/000537830","url":null,"abstract":"Introduction: Combined nutritional deficiency is an uncommon cause of vision loss in the USA. Notably, vitamin A deficiency can produce nyctalopia but rarely causes bilateral central vision loss. The combination of these symptoms is unusual, although likely underreported.Case presentation: We report an exceptionally rare case of bilateral central vision loss and nyctalopia caused by combined vitamin A, zinc, and copper deficiency, likely following bariatric surgery and alcohol use. Following mineral and vitamin supplementation, the patient's vision improved significantly and returned to baseline within 1 month. Vision loss resulting from this specific multicombination of vitamin and mineral deficiency has never been reported previously in the English-language ophthalmic literature.Conclusion: Given rising rates of bariatric surgery and alcohol use in the USA and abroad, clinicians should be aware that the combination of progressive nyctalopia and bilateral central vision loss may be produced by combined nutritional deficiency. Screening and supplementation of both vitamin and mineral deficiency may result in dramatic reversal of visual loss in such cases.","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"15 1","pages":"559-564"},"PeriodicalIF":0.5,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11250685/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626141","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

Fluorescein Angiogram Causing Cutaneous Venous Staining: A Rare Self-Resolving Phenomenon. 荧光素血管造影导致皮肤静脉染色：一种罕见的自愈现象

IF 0.5

Case Reports in Ophthalmology Pub Date : 2024-07-12 eCollection Date: 2024-01-01 DOI: 10.1159/000539900

Zachary George Angus, Daini Ong, Sanjeewa S Wickremasinghe

{"title":"Fluorescein Angiogram Causing Cutaneous Venous Staining: A Rare Self-Resolving Phenomenon.","authors":"Zachary George Angus, Daini Ong, Sanjeewa S Wickremasinghe","doi":"10.1159/000539900","DOIUrl":"10.1159/000539900","url":null,"abstract":"Introduction: Fluorescein angiography (FA) is a useful investigation in the diagnosis and treatment of retinal and choroidal disease. FA has well-reported adverse effects, most being mild. Very few cases have reported cutaneous venous staining following FA.Case presentation: Two cases are reported. Case 1 was a 90-year-old female with bilateral neovascular age-related macular degeneration. In the few minutes following her routine FA, she developed cutaneous fluorescein staining ascending along the superficial forearm veins proximal to the cannula in situ at the dorsal wrist. Case 2 was a 50-year-old male with diabetic macular oedema. In the minutes following his FA, he developed cutaneous fluorescein staining descending along the dorsal forearm veins distal to the cannula in situ at the cubital fossa. Both patients were managed conservatively with the stain resolving in the next few days.Conclusion: Cutaneous fluorescein staining around superficial vasculature is a rare phenomenon. Despite this, it seems to be self-limiting and does not require any treatment.","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"15 1","pages":"548-551"},"PeriodicalIF":0.5,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11250062/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626137","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

When Uveitis and Hypotony Meets Bilateral Iris Retraction Syndrome: A Rare but Serious Complication of Nivolumab Treatment. 当葡萄膜炎和低眼压症遇上双侧虹膜回缩综合征：Nivolumab治疗罕见但严重的并发症。

IF 0.5

Case Reports in Ophthalmology Pub Date : 2024-07-12 eCollection Date: 2024-01-01 DOI: 10.1159/000539425

Stylianos A Kandarakis, Leonidas Doumazos, Georgia Karageorgiou, Petros Petrou, Spyridon Doumazos, Panagiotis Malamos, Ilias Georgalas

{"title":"When Uveitis and Hypotony Meets Bilateral Iris Retraction Syndrome: A Rare but Serious Complication of Nivolumab Treatment.","authors":"Stylianos A Kandarakis, Leonidas Doumazos, Georgia Karageorgiou, Petros Petrou, Spyridon Doumazos, Panagiotis Malamos, Ilias Georgalas","doi":"10.1159/000539425","DOIUrl":"10.1159/000539425","url":null,"abstract":"Introduction: Iris retraction syndrome (IRS) is a rare clinical condition characterized by a backbowing of the iris positioned on the lens with a complete pupillary block. Immune checkpoint inhibitors (ICIs) are a new class of immunomodulating agents used in cancer therapy, and although they have high response rates, ophthalmic-related side effects have been reported. We report a rare case of bilateral IRS with hypotony after therapy with nivolumab.Case presentation: We present a case of bilateral IRS with hypotony, 3 mm Hg OD and 5 mm Hg OS, after therapy with nivolumab. The patient presented with decreased vision, corneal edema, keratic precipitates, deep anterior chamber with posterior synechiae, and hypotony maculopathy. Anterior segment OCT revealed a sharp posterior displacement of the iridolenticular diaphragm consistent with IRS. Discontinuation of nivolumab until ocular improvement was suggested, following oncologic consultation. Four months later, the patient exhibited iris bombé with angle closure and increased IOP. This was managed with phacoemulsification and concomitant surgical iridectomy. One month after surgery, the patient's IOP had returned to physiologic values, and the iris configuration had returned to normal.Conclusion: The exact mechanism of IRS remains unclear, but it is suggested that an aqueous imbalance, in conjunction with uveitis and hypotony, creates an anterio-posterior movement of the iridolenticular diaphragm when the pupillary block is present. Our case highlights the importance of monitoring patients receiving ICIs for ophthalmic adverse effects and prompt management to prevent permanent visual damage. In conclusion, this is the first reported case of IRS after therapy with ICIs. Further research is needed to fully understand the exact mechanism by which it is induced.","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"15 1","pages":"552-558"},"PeriodicalIF":0.5,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11250464/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626148","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

Exposure to Caper Spurge (Euphorbia lathyris) Sap: A Case of Ocular and Periorbital Toxicity. 接触莎草（Euphorbia lathyris）汁液：一例眼部和眶周中毒病例。

IF 0.5

Case Reports in Ophthalmology Pub Date : 2024-07-03 eCollection Date: 2024-01-01 DOI: 10.1159/000539419

Li Teng Kok, Mukhtar Bizrah, M Francesca Cordeiro, Nizar Din

{"title":"Exposure to Caper Spurge (Euphorbia lathyris) Sap: A Case of Ocular and Periorbital Toxicity.","authors":"Li Teng Kok, Mukhtar Bizrah, M Francesca Cordeiro, Nizar Din","doi":"10.1159/000539419","DOIUrl":"10.1159/000539419","url":null,"abstract":"Introduction: We aimed to describe a case of bilateral keratoconjunctivitis after exposure to the toxic sap of Euphorbia lathyris.Case report: A 76-year-old gentleman presented after exposure to E. lathyris whilst he was gardening. He had 6/12 visual acuity in his right eye, and 6/4 in his left. Examination revealed marked periocular dermatitis, conjunctival injection and corneal oedema in the right eye with diffuse punctate epithelial staining. He was treated with ocular irrigation, topical steroids, antibiotics, cycloplegics and lubricants. Over 48 h, his left eye started to become symptomatic. He developed bilateral corneal epithelial defects and anterior chamber inflammation. His visual acuity worsened to 6/36 right and 6/24 left. At his 3-week follow-up, there was marked improvement in the resolution of the toxic keratoconjunctivitis in both eyes.Conclusion: Toxic sap from E. lathyris can cause severe keratoconjunctivitis. Irrigation of both eyes despite unilateral symptoms and early follow-up should be considered signs of toxicity may only become evident after 24-48 h.","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"15 1","pages":"542-547"},"PeriodicalIF":0.5,"publicationDate":"2024-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11250593/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626126","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

Pressure-Induced Stromal Keratopathy after Surface Ablation Surgery. 表面消融手术后压力引起的基质角膜病变

IF 0.5

Case Reports in Ophthalmology Pub Date : 2024-07-01 eCollection Date: 2024-01-01 DOI: 10.1159/000539701

Jaime Guedes, Rodrigo Vilares-Morgado, Rodrigo Brazuna, Alexandre Costa Neto, Denisse Josefina Mora-Paez, Marcella Q Salomão, Fernando Faria-Correia, Renato Ambrósio

{"title":"Pressure-Induced Stromal Keratopathy after Surface Ablation Surgery.","authors":"Jaime Guedes, Rodrigo Vilares-Morgado, Rodrigo Brazuna, Alexandre Costa Neto, Denisse Josefina Mora-Paez, Marcella Q Salomão, Fernando Faria-Correia, Renato Ambrósio","doi":"10.1159/000539701","DOIUrl":"10.1159/000539701","url":null,"abstract":"Introduction: The purpose of this clinical report was to describe an unprecedented case of bilateral pressure-induced stromal keratopathy (PISK) following corneal photorefractive keratectomy, associated with presumed herpetic keratitis, and to present tomographic and biomechanical findings before and after appropriate treatment.Case presentation: A 33-year-old male patient was referred to our clinic with suspected delayed corneal epithelial healing 3 weeks after an uncomplicated PRK. A central layer of corneal opacity with a presumed fluid-filled interface area was observed upon slit lamp biomicroscopy. Scheimpflug images from the Pentacam® revealed a hyperreflective area beneath the central cornea. Scheimpflug-based corneal tomography, biomechanical assessment using the Pentacam® AXL Wave, and the Corvis ST® were conducted. Goldmann applanation tonometry measured 23/13 mm Hg, while noncontact tonometry intraocular pressure measured with the Corvis ST® (Corvis ST IOPnct) was 40.5/43.5 mm Hg. Treatment with oral valacyclovir, combined with ocular hypotensive therapy, led to a significant reduction in IOP and improved corneal deformation parameters after 1 month.Conclusion: Surgeons should be aware of the inaccuracy of Goldmann applanation tonometry in PISK, which can occur after LASIK or surface ablation.","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"15 1","pages":"532-541"},"PeriodicalIF":0.5,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11250257/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626140","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

Unexpected Vision Loss following Six Intravitreal Injections for Neovascular Age-Related Macular Degeneration. 对新生血管性老年性黄斑变性进行六次玻璃体内注射后的意外视力损失。

IF 0.5

Case Reports in Ophthalmology Pub Date : 2024-06-28 eCollection Date: 2024-01-01 DOI: 10.1159/000537777

Maggie Hui, Robert Gunzenhauser, Alexander Dillon, Irena Tsui

引用次数: 0

A Case of Transparent Cornea Maintained after Removal of Dislocated Graft from Descemet's Stripping Automated Endothelial Keratoplasty. 一例从 Descemet's Stripping Automated Endothelial Keratoplasty 移除脱位移植物后仍能保持透明角膜的病例。

IF 0.5

Case Reports in Ophthalmology Pub Date : 2024-06-26 eCollection Date: 2024-01-01 DOI: 10.1159/000539392

Yuta Nariya, Takashi Ono, Yuichi Asahina, Atsushi Kondo, Yukako Taketani, Mikiko Kimakura, Tetsuya Toyono, Makoto Aihara, Takashi Miyai

{"title":"A Case of Transparent Cornea Maintained after Removal of Dislocated Graft from Descemet's Stripping Automated Endothelial Keratoplasty.","authors":"Yuta Nariya, Takashi Ono, Yuichi Asahina, Atsushi Kondo, Yukako Taketani, Mikiko Kimakura, Tetsuya Toyono, Makoto Aihara, Takashi Miyai","doi":"10.1159/000539392","DOIUrl":"10.1159/000539392","url":null,"abstract":"Introduction: Corneal graft detachment is a major postoperative complication of Descemet's stripping automated endothelial keratoplasty (DSAEK). When a corneal graft becomes detached, corneal endothelial function generally fails, and repeat corneal transplantation is required. Herein, we report a rare case in which a transparent cornea was maintained after the removal of a dislocated DSAEK graft.Case presentation: A 79-year-old woman with a residual lens cortex who had undergone cataract surgery was referred to our hospital. The cortex was removed, and bullous keratopathy progressed. Six months after the initial surgery, DSAEK was performed under topical anesthesia without any complications. Although the corneal graft had attached fairly well, it detached from the host cornea 3 weeks later. Two months after DSAEK, an air tamponade was used to treat the anterior chamber with single interrupted suturing; however, the graft detached again, except for the suture site. Because the detached cornea became cloudy in the anterior chamber, it was surgically removed 8 months after DSAEK. Accordingly, the host cornea transparency improved to a best-corrected visual acuity of 0.8 with a rigid gas permeable lens and a central corneal thickness of 580 μm. The corneal endothelial cell density was 995 cells/mm2.Conclusion: Removal of the corneal graft from the dislocated cloudy graft improved the visual acuity of this patient after DSAEK. The condition of the cornea should be carefully monitored after corneal endothelial transplantation, even after the graft has been dislocated.","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"15 1","pages":"518-524"},"PeriodicalIF":0.5,"publicationDate":"2024-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11250565/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626121","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

Leber Hereditary Optic Neuropathy Case Report: Clinical Presentation and Treatment with Idebenone Reinforce the Evidence for m.3866T>C as a Causative Variant. 勒伯遗传性视神经病变病例报告：临床表现和依地苯酮治疗加强了 m.3866T>C 作为致病变异体的证据。

IF 0.5

Case Reports in Ophthalmology Pub Date : 2024-06-20 eCollection Date: 2024-01-01 DOI: 10.1159/000539445

Øystein K Jørstad, Stine Skaar, Harald Strand, Oddveig Røsby, Ruth Therese Brokstad, Pål A Rønning

{"title":"Leber Hereditary Optic Neuropathy Case Report: Clinical Presentation and Treatment with Idebenone Reinforce the Evidence for m.3866T>C as a Causative Variant.","authors":"Øystein K Jørstad, Stine Skaar, Harald Strand, Oddveig Røsby, Ruth Therese Brokstad, Pål A Rønning","doi":"10.1159/000539445","DOIUrl":"10.1159/000539445","url":null,"abstract":"Introduction: Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder that typically presents with painless, central visual loss, hyperaemia of the optic nerve head, and peripapillary telangiectasias. Most LHON cases are due to one of three variants, but several less common variants also exist. We describe a clinical case of LHON associated with the variant m.3866T>C, which is possibly linked to LHON.Case presentation: A 59-year-old Caucasian woman experienced acute, bilateral, and painless visual loss. She reported cigarette smoking, and elevated phosphatidylethanol suggested harmful alcohol consumption. Her best-corrected visual acuity (BCVA) was 20/100 for the right eye and 20/50 for the left eye. She could only read the Ishihara demonstration plate, and threshold perimetry demonstrated reduced central sensitivity bilaterally. Her optic nerve heads were hyperaemic, with peripapillary telangiectasias. The visual symptoms and clinical findings suggested LHON. Magnetic resonance imaging demonstrated a tuberculum sella meningioma and two cerebral aneurysms, which we regarded as incidental findings. Genetic testing did not identify common LHON variants but a rare homoplasmic variant, m.3866T>C, which studies suggest might cause LHON or act in synergy with other variants to increase the disease penetrance. After initiating test-of-treatment with idebenone 900 mg per day, the patient's BCVA improved to 20/32 for both eyes and then stabilized.Conclusion: This case strengthens the evidence for m.3866T>C as a causative LHON variant. The case also raises the question as to whether this particular variant can respond favourably to treatment with idebenone.","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"15 1","pages":"513-517"},"PeriodicalIF":0.5,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11250114/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626138","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

Successful Treatment of Hemi-Retinal Vein Occlusion with Macular Edema following Spinal Surgery Using Intravitreal Aflibercept and Retinal Photocoagulation: A Case Report. 使用玻璃体内 Aflibercept 和视网膜光凝成功治疗脊柱手术后伴有黄斑水肿的半视网膜静脉闭塞：病例报告。

IF 0.5

Case Reports in Ophthalmology Pub Date : 2024-06-13 eCollection Date: 2024-01-01 DOI: 10.1159/000539343

Shunji Nakatake, Yoshiki Sato, Maho Itotani, Kenichi Kimoto, Toshiaki Kubota, Atsunobu Takeda

{"title":"Successful Treatment of Hemi-Retinal Vein Occlusion with Macular Edema following Spinal Surgery Using Intravitreal Aflibercept and Retinal Photocoagulation: A Case Report.","authors":"Shunji Nakatake, Yoshiki Sato, Maho Itotani, Kenichi Kimoto, Toshiaki Kubota, Atsunobu Takeda","doi":"10.1159/000539343","DOIUrl":"10.1159/000539343","url":null,"abstract":"Introduction: Perioperative visual loss (POVL) owing to hemi-retinal vein occlusion (HRVO) following prone positioning during spinal surgery is rare. Here, we report a case of HRVO with macular edema (ME) after spinal surgery that was successfully treated with intravitreal aflibercept (IVA) injections and retinal photocoagulation (RP).Case presentation: A 63-year-old Japanese man underwent spinal surgery for lumbar spinal canal stenosis. Surgery was performed with the patient in the prone position under general anesthesia; the operation time was 305 min. No complications were associated with intraoperative anesthesia. On postoperative day 4, the patient noticed decreased visual acuity in his left eye and visited the Department of Ophthalmology on postoperative day 9. The best-corrected visual acuity (BCVA) in the left eye was 0.1. Fundus and optical coherence tomography revealed HRVO and ME in the left eye. IVA injections and RP were performed in the eye, which substantially decreased the ME and improved the patient's BCVA to 0.8.Conclusions: HRVO can cause POVL after prone positioning during spinal surgery. This is the first case of HRVO with ME after spinal surgery, which was successfully treated with IVA injections and RP.","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"15 1","pages":"507-512"},"PeriodicalIF":0.5,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11249612/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626145","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

Detailed Phenotype Supports Pathogenicity of Hypomorphic Variant in ABCC6-Associated Pattern Dystrophy. 详细表型支持 ABCC6 相关花纹营养不良症低常变体的致病性

IF 0.5

Case Reports in Ophthalmology Pub Date : 2024-06-12 eCollection Date: 2024-01-01 DOI: 10.1159/000538045

Jonathan C Tsui, Tomas S Aleman, Paul J Tapino, Benjamin J Kim

{"title":"Detailed Phenotype Supports Pathogenicity of Hypomorphic Variant in ABCC6-Associated Pattern Dystrophy.","authors":"Jonathan C Tsui, Tomas S Aleman, Paul J Tapino, Benjamin J Kim","doi":"10.1159/000538045","DOIUrl":"10.1159/000538045","url":null,"abstract":"Introduction: We report a case of pseudoxanthoma elasticum (PXE) with an atypical phenotype likely related to a hypomorphic variant in ABCC6.Case presentation: A 66-year-old Caucasian female with a history of a maculopathy interpreted as either age-related macular degeneration or a pattern dystrophy underwent a detailed ophthalmic evaluation. Visual acuities were 20/25, OD, and 20/20, OS. Spectral domain optical coherence and fluorescein angiography demonstrated outer retinal disruptions and breaks in retinal pigment epithelium (RPE)/Bruch's membrane bilaterally, consistent with angioid streaks. A large area of hypo- and hyperautofluorescence extending from the central retina into the peripapillary retina was documented with short-wavelength excitation autofluorescence. The area of hypoautofluorescence, which was much larger on near-infrared excitation, spared the temporal retina. Two-color dark-adapted perimetries documented severe rod sensitivity losses and less severe cone sensitivity abnormalities co-localizing with the RPE abnormalities. No obvious skin findings were observed, and initial dermatologic biopsy was negative. Gene screening identified a pathogenic ABCC6 gene variant c.1552C>T and a previously reported variant of uncertain significance c.1171A>G. A second dermatologic biopsy demonstrated positive findings consistent with PXE.Conclusion: Although this patient had minimal skin findings, this patient had characteristic structural and functional abnormalities of a pattern dystrophy with angioid streaks and histologic evidence of PXE, suggesting compound heterozygous variants involving the hypomorphic ABCC6 c.1171A>G variant. These findings support the pathogenic role of both variants.","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"15 1","pages":"497-506"},"PeriodicalIF":0.5,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11250126/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626125","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