M. Abrishami, S. Hosseini, Nasser Shoeibi, Hamid-Reza Heidarzadeh
Purpose To report a case of protein C deficiency with paracentral acute middle maculopathy (PAMM) and nonischemic central retinal vein obstruction (NI-CRVO). Case Report. A previously healthy twenty-one-year-old male was referred with sudden-onset, painless, unilateral paracentral scotomata in the right eye for a week. His uncorrected visual acuity was 20/20 in both eyes. In fundus examination of the right eye, mild venous tortuosity, retinal hemorrhages, and a gray-white opacity in the papillomacular bundle were observed. In the macular spectral-domain optical coherence tomography images, a hyperreflective band was noticed at the level of the inner nuclear layer, indicating PAMM. Fundus appearance and fluorescein angiography findings indicated NI-CRVO diagnosis made. The systemic and laboratory evaluations disclosed a protein C deficiency. Conclusion In this report, in a healthy young male, combined PAMM and NI-CRVO showed to be the cause of blurred vision in the setting of protein C deficiency.
{"title":"Paracentral Acute Middle Maculopathy and Nonischemic Central Retinal Vein Obstruction in a Young Patient with Protein C Deficiency","authors":"M. Abrishami, S. Hosseini, Nasser Shoeibi, Hamid-Reza Heidarzadeh","doi":"10.1155/2022/1237148","DOIUrl":"https://doi.org/10.1155/2022/1237148","url":null,"abstract":"Purpose To report a case of protein C deficiency with paracentral acute middle maculopathy (PAMM) and nonischemic central retinal vein obstruction (NI-CRVO). Case Report. A previously healthy twenty-one-year-old male was referred with sudden-onset, painless, unilateral paracentral scotomata in the right eye for a week. His uncorrected visual acuity was 20/20 in both eyes. In fundus examination of the right eye, mild venous tortuosity, retinal hemorrhages, and a gray-white opacity in the papillomacular bundle were observed. In the macular spectral-domain optical coherence tomography images, a hyperreflective band was noticed at the level of the inner nuclear layer, indicating PAMM. Fundus appearance and fluorescein angiography findings indicated NI-CRVO diagnosis made. The systemic and laboratory evaluations disclosed a protein C deficiency. Conclusion In this report, in a healthy young male, combined PAMM and NI-CRVO showed to be the cause of blurred vision in the setting of protein C deficiency.","PeriodicalId":9603,"journal":{"name":"Case Reports in Ophthalmological Medicine","volume":"2 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83821993","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}
H. Kumar, D. Talwar, Mithun Thulasidas, Surbi Taneja
Purpose To describe a case of secondary acute angle closure glaucoma due to silicone oil migration into the posterior chamber causing entrapment of aqueous and its successful management. Case Presentation. A 69-year-old female presented with decreased vision and pain in the left eye (LE) for one month. She had a history of complicated phacoemulsification with nucleus drop and retinal detachment in LE, for which vitreoretinal surgery with silicone oil endotamponade was done. She was also a known case of primary open angle glaucoma on medications. The corrected distance visual acuity was 20/20 and 20/125 in the right eye (RE) and LE, respectively. The intraocular pressure (IOP) was 18 mmHg in RE and 45 mmHg in LE. Anterior segment examination of LE revealed 270° of iridocorneal apposition in the periphery of the anterior chamber. Fundus examination of LE showed silicone oil filled vitreous cavity with attached retina. Given the recent history of silicone oil injection and elevated IOP despite maximum antiglaucoma medications, we decided to perform laser peripheral iridotomy (LPI) in the area of iridocorneal apposition. Following LPI, the IOP in LE came down to 17 mmHg and remained stable within the normal range for one month, after which the patient was taken up for silicone oil removal. Conclusion This case report highlights a new mechanism of silicone oil-induced glaucoma and the technique of performing LPI in the area of iridocorneal apposition, for the first time in the literature. Silicone oil migration into the posterior chamber from the vitreous cavity in the presence of zonular dehiscence can push the iris forward and lead to iridocorneal apposition, resulting in an acute rise in IOP. Performing LPI within the area of iridocorneal apposition can help the aqueous seep into the anterior chamber and release the silicone oil globule trapped behind the iris to enter the anterior chamber, thus relieving the iridocorneal adhesions and lowering the IOP.
{"title":"A New Mechanism of Silicone Oil-Induced Glaucoma and Its Management","authors":"H. Kumar, D. Talwar, Mithun Thulasidas, Surbi Taneja","doi":"10.1155/2022/2343139","DOIUrl":"https://doi.org/10.1155/2022/2343139","url":null,"abstract":"Purpose To describe a case of secondary acute angle closure glaucoma due to silicone oil migration into the posterior chamber causing entrapment of aqueous and its successful management. Case Presentation. A 69-year-old female presented with decreased vision and pain in the left eye (LE) for one month. She had a history of complicated phacoemulsification with nucleus drop and retinal detachment in LE, for which vitreoretinal surgery with silicone oil endotamponade was done. She was also a known case of primary open angle glaucoma on medications. The corrected distance visual acuity was 20/20 and 20/125 in the right eye (RE) and LE, respectively. The intraocular pressure (IOP) was 18 mmHg in RE and 45 mmHg in LE. Anterior segment examination of LE revealed 270° of iridocorneal apposition in the periphery of the anterior chamber. Fundus examination of LE showed silicone oil filled vitreous cavity with attached retina. Given the recent history of silicone oil injection and elevated IOP despite maximum antiglaucoma medications, we decided to perform laser peripheral iridotomy (LPI) in the area of iridocorneal apposition. Following LPI, the IOP in LE came down to 17 mmHg and remained stable within the normal range for one month, after which the patient was taken up for silicone oil removal. Conclusion This case report highlights a new mechanism of silicone oil-induced glaucoma and the technique of performing LPI in the area of iridocorneal apposition, for the first time in the literature. Silicone oil migration into the posterior chamber from the vitreous cavity in the presence of zonular dehiscence can push the iris forward and lead to iridocorneal apposition, resulting in an acute rise in IOP. Performing LPI within the area of iridocorneal apposition can help the aqueous seep into the anterior chamber and release the silicone oil globule trapped behind the iris to enter the anterior chamber, thus relieving the iridocorneal adhesions and lowering the IOP.","PeriodicalId":9603,"journal":{"name":"Case Reports in Ophthalmological Medicine","volume":"14 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74839953","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}
A congenital cystic eyeball is an extremely rare condition, with only 52 cases reported in the literature to date. An orbital cyst replaces the eyeball which occurs due to the complete or partial failure in invagination of the primary optic vesicle during the fourth week of gestation. We discuss a case of a congenital cystic eyeball in a 14-year-old female who presented to us for a cosmetic blemish due to a large swelling in the right eyelid with the absence of a right eyeball since birth. She underwent removal of the cyst followed by an orbital implant and later prosthesis. Diagnosis of the congenital cystic eyeball was made based on the clinical and ultrasound B-scan features, intraoperative findings, and histopathology report. This article adds one more case to the existing literature on the congenital cystic eyeball. Orbital implant with prosthesis after excision of the cyst provided definitive diagnosis and a good cosmetic outcome in our case.
{"title":"Managing a Case of a Congenital Cystic Eyeball: Case Report with Review of Literature","authors":"Aashish Raj Pant, Rinkal Suwal, Purushottam Joshi, Santosh Chaudhary","doi":"10.1155/2022/3945537","DOIUrl":"https://doi.org/10.1155/2022/3945537","url":null,"abstract":"A congenital cystic eyeball is an extremely rare condition, with only 52 cases reported in the literature to date. An orbital cyst replaces the eyeball which occurs due to the complete or partial failure in invagination of the primary optic vesicle during the fourth week of gestation. We discuss a case of a congenital cystic eyeball in a 14-year-old female who presented to us for a cosmetic blemish due to a large swelling in the right eyelid with the absence of a right eyeball since birth. She underwent removal of the cyst followed by an orbital implant and later prosthesis. Diagnosis of the congenital cystic eyeball was made based on the clinical and ultrasound B-scan features, intraoperative findings, and histopathology report. This article adds one more case to the existing literature on the congenital cystic eyeball. Orbital implant with prosthesis after excision of the cyst provided definitive diagnosis and a good cosmetic outcome in our case.","PeriodicalId":9603,"journal":{"name":"Case Reports in Ophthalmological Medicine","volume":"23 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78031159","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}
Background Recurrence of herpetic keratitis following vaccination has been documented following vaccination with the Zostavax, trivalent flu, hepatitis A, and rabies vaccines. The USFDA and WHO have acknowledged that the novel COVID-19 vaccines similarly have a risk of reactive immunologic-based inflammation, namely, myositis, pericarditis, and Guillain-Barré syndrome. Case Presentation. We present two patients with latent herpetic keratitis who experienced reactivation of keratitis within weeks of COVID-19 vaccination despite prolonged periods of prior latency. A 52-year-old healthy male with no herpes simplex virus (HSV) keratitis recurrences in two years developed visual decline and patchy stromal haze within 24-48 hours of receiving the second Pfizer-BioNTech (COVID-19 BNT162b2) vaccine. A 67-year-old female with chronic neurotrophic keratitis developed her most severe exacerbation of herpes zoster keratitis in over 10 years occurring 2-3 weeks after her first Moderna (mRNA-1273) vaccine, which was later complicated by bacterial superinfection. Conclusions The COVID-19 vaccines work by generating both adaptive humoral and cellular immune responses in humans, including elevation of anti-spike neutralizing antibody titers, antigen-specific CD4+ and CD8+ T-cell responses, and increased levels of proinflammatory cytokines such as interferon gamma (IFNγ). The general activation of the T-cell-mediated immune response and proinflammatory cytokines such as IFNγ may underlie the role of the COVID vaccines in reactivation of herpetic stromal keratitis and the clinical findings in our reported cases.
{"title":"Recurrence of Herpetic Keratitis after COVID-19 Vaccination: A Report of Two Cases","authors":"A. M. Fard, Jeffrey Desilets, Sangita P. Patel","doi":"10.1155/2022/7094893","DOIUrl":"https://doi.org/10.1155/2022/7094893","url":null,"abstract":"Background Recurrence of herpetic keratitis following vaccination has been documented following vaccination with the Zostavax, trivalent flu, hepatitis A, and rabies vaccines. The USFDA and WHO have acknowledged that the novel COVID-19 vaccines similarly have a risk of reactive immunologic-based inflammation, namely, myositis, pericarditis, and Guillain-Barré syndrome. Case Presentation. We present two patients with latent herpetic keratitis who experienced reactivation of keratitis within weeks of COVID-19 vaccination despite prolonged periods of prior latency. A 52-year-old healthy male with no herpes simplex virus (HSV) keratitis recurrences in two years developed visual decline and patchy stromal haze within 24-48 hours of receiving the second Pfizer-BioNTech (COVID-19 BNT162b2) vaccine. A 67-year-old female with chronic neurotrophic keratitis developed her most severe exacerbation of herpes zoster keratitis in over 10 years occurring 2-3 weeks after her first Moderna (mRNA-1273) vaccine, which was later complicated by bacterial superinfection. Conclusions The COVID-19 vaccines work by generating both adaptive humoral and cellular immune responses in humans, including elevation of anti-spike neutralizing antibody titers, antigen-specific CD4+ and CD8+ T-cell responses, and increased levels of proinflammatory cytokines such as interferon gamma (IFNγ). The general activation of the T-cell-mediated immune response and proinflammatory cytokines such as IFNγ may underlie the role of the COVID vaccines in reactivation of herpetic stromal keratitis and the clinical findings in our reported cases.","PeriodicalId":9603,"journal":{"name":"Case Reports in Ophthalmological Medicine","volume":"94 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80644201","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}
Anterior megalophthalmos is a rare, bilateral, nonprogressive, hereditary, congenital disorder characterized by the enlargement of all anterior segment structures of the eye, with megalocornea, iris atrophy, and zonular abnormalities. We report a case of an 8-year-old male who presented to the emergency department with a history of visual loss after a blunt ocular trauma to the left eye. The patient presented with markedly enlarged corneas and deepened anterior chambers bilaterally. Best-corrected visual acuity (BCVA) was hand motion in the left eye. An additional examination revealed multiple anterior segment abnormalities, leading to the diagnosis of megalophthalmos and lens dislocation in the anterior chamber. The patient underwent a lensectomy and anterior vitrectomy in the left eye. At six months postoperatively, the BCVA was 20/200 in the left eye. Lens dislocation in patients with megalocornea is rare. Cataract surgery in these patients requires attention to the zonular abnormalities and lens enlargement, resulting in increased rates of intraoperative and postoperative complications. Ophthalmologists should be able to diagnose this rare disorder and manage the associations and complications.
{"title":"Traumatic Lens Dislocation in an Eye with Anterior Megalophthalmos","authors":"Huda AlGhadeer","doi":"10.1155/2022/6366949","DOIUrl":"https://doi.org/10.1155/2022/6366949","url":null,"abstract":"Anterior megalophthalmos is a rare, bilateral, nonprogressive, hereditary, congenital disorder characterized by the enlargement of all anterior segment structures of the eye, with megalocornea, iris atrophy, and zonular abnormalities. We report a case of an 8-year-old male who presented to the emergency department with a history of visual loss after a blunt ocular trauma to the left eye. The patient presented with markedly enlarged corneas and deepened anterior chambers bilaterally. Best-corrected visual acuity (BCVA) was hand motion in the left eye. An additional examination revealed multiple anterior segment abnormalities, leading to the diagnosis of megalophthalmos and lens dislocation in the anterior chamber. The patient underwent a lensectomy and anterior vitrectomy in the left eye. At six months postoperatively, the BCVA was 20/200 in the left eye. Lens dislocation in patients with megalocornea is rare. Cataract surgery in these patients requires attention to the zonular abnormalities and lens enlargement, resulting in increased rates of intraoperative and postoperative complications. Ophthalmologists should be able to diagnose this rare disorder and manage the associations and complications.","PeriodicalId":9603,"journal":{"name":"Case Reports in Ophthalmological Medicine","volume":"1 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78437396","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}
M. Abrishami, M. Shariati, Ali Bolouki, Ghodsieh Zamani
Purpose To report an unusual case of gas expansion following oxygen therapy in a patient with sulfur hexafluoride (SF6) 20% tamponade after pars plana vitrectomy. Case Report. A 40-year-old man came to the clinic with severe ocular pain and redness and also vision decrease in his left eye three days after uncomplicated 23-gauge pars plana vitrectomy, internal limiting membrane peeling combined with phacoemulsification, and using 20% SF6 injection as a tamponade agent due to significant cataract and a full-thickness macular hole. In ophthalmic examinations of his left eye, high intraocular pressure (approximately 70 mmHg), a flat anterior chamber, and a gas-filled vitreous cavity were found. The patient had been hospitalized the day before due to carbon monoxide poisoning and had undergone oxygen therapy with a pure 100% mask for three hours. Conclusion It seems that oxygen therapy or carbon monoxide poisoning increases the volume of gas in the patient's vitreous cavity and the nonexpansile percentage of SF6 expands.
{"title":"Gas Expansion Three Days after Pars Plana Vitrectomy with Sulfur Hexafluoride 20% Tamponade following Carbon Monoxide Toxicity and Oxygen Therapy","authors":"M. Abrishami, M. Shariati, Ali Bolouki, Ghodsieh Zamani","doi":"10.1155/2022/5035361","DOIUrl":"https://doi.org/10.1155/2022/5035361","url":null,"abstract":"Purpose To report an unusual case of gas expansion following oxygen therapy in a patient with sulfur hexafluoride (SF6) 20% tamponade after pars plana vitrectomy. Case Report. A 40-year-old man came to the clinic with severe ocular pain and redness and also vision decrease in his left eye three days after uncomplicated 23-gauge pars plana vitrectomy, internal limiting membrane peeling combined with phacoemulsification, and using 20% SF6 injection as a tamponade agent due to significant cataract and a full-thickness macular hole. In ophthalmic examinations of his left eye, high intraocular pressure (approximately 70 mmHg), a flat anterior chamber, and a gas-filled vitreous cavity were found. The patient had been hospitalized the day before due to carbon monoxide poisoning and had undergone oxygen therapy with a pure 100% mask for three hours. Conclusion It seems that oxygen therapy or carbon monoxide poisoning increases the volume of gas in the patient's vitreous cavity and the nonexpansile percentage of SF6 expands.","PeriodicalId":9603,"journal":{"name":"Case Reports in Ophthalmological Medicine","volume":"69 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82689031","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}
W. Chaidaroon, S. Ausayakhun, N. Tananuvat, Phit Upaphong, Kittipong Thabsuwan
Purpose To report three cases of culture-positive Pseudomonas aeruginosa scleritis following pterygium surgery. Patients and Methods. A retrospective study of all patients of Pseudomonas aeruginosa scleritis after pterygium surgery presented from May 2017 to May 2020 was performed. Patient demographics and clinical characteristics included age, gender, time between prior surgery and onset, adjunctive therapy, risk factors, initial visual acuity, final visual acuity, clinical features, medical treatment, and surgical intervention were analyzed. Results Three eyes of three patients with clinical characteristics and laboratory-confirmed Pseudomonas aeruginosa scleritis were identified. Two patients were related with mitomycin C application after pterygium surgery, and only one had beta irradiation. Antibiotic administration and scleral debridement were required in 3 patients. One eye was enucleated. Final visual outcomes of two patients were improved. Conclusions Pseudomonas aeruginosa scleritis after pterygium surgery is a crucial ophthalmic disease. An early diagnosis with a prompt intensive antibiotic treatment in combination with surgical interventions may improve visual outcome.
{"title":"Pseudomonas aeruginosa Scleritis following Pterygium Surgery with Mitomycin C or Beta Irradiation: Three-Case Report","authors":"W. Chaidaroon, S. Ausayakhun, N. Tananuvat, Phit Upaphong, Kittipong Thabsuwan","doi":"10.1155/2022/8000944","DOIUrl":"https://doi.org/10.1155/2022/8000944","url":null,"abstract":"Purpose To report three cases of culture-positive Pseudomonas aeruginosa scleritis following pterygium surgery. Patients and Methods. A retrospective study of all patients of Pseudomonas aeruginosa scleritis after pterygium surgery presented from May 2017 to May 2020 was performed. Patient demographics and clinical characteristics included age, gender, time between prior surgery and onset, adjunctive therapy, risk factors, initial visual acuity, final visual acuity, clinical features, medical treatment, and surgical intervention were analyzed. Results Three eyes of three patients with clinical characteristics and laboratory-confirmed Pseudomonas aeruginosa scleritis were identified. Two patients were related with mitomycin C application after pterygium surgery, and only one had beta irradiation. Antibiotic administration and scleral debridement were required in 3 patients. One eye was enucleated. Final visual outcomes of two patients were improved. Conclusions Pseudomonas aeruginosa scleritis after pterygium surgery is a crucial ophthalmic disease. An early diagnosis with a prompt intensive antibiotic treatment in combination with surgical interventions may improve visual outcome.","PeriodicalId":9603,"journal":{"name":"Case Reports in Ophthalmological Medicine","volume":"69 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78378840","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}
Saeed Shokoohi-rad, Samaneh Gholamhoseinpour-Omran, Hamed Hosseinikhah-Manshadi, M. Baghi Yazdi
Purpose To introduce a new method for treating irido-corneal adhesion (ICA) by using argon laser. Case Presentation. A 60-year-old woman with advanced glaucoma who is undergoing trabeculectomy. In follow-up visits, choroidal effusion and iridocorneal adhesion were seen in the examination. The massive choroidal effusion was treated with medical therapy. In further follow-up examination, ICA was repaired with argon laser. Result Early laser treatment prior to surgical management is suggested in postoperative synechia. Conclusion Early argon laser synechiolysis is a less-invasive procedure which prevents probable surgical complications such as local detachment of Descemet's membrane or bleeding in surgical synechiolysis.
{"title":"Argon Laser Synechiolysis for Irido-Corneal Adhesion","authors":"Saeed Shokoohi-rad, Samaneh Gholamhoseinpour-Omran, Hamed Hosseinikhah-Manshadi, M. Baghi Yazdi","doi":"10.1155/2022/5289203","DOIUrl":"https://doi.org/10.1155/2022/5289203","url":null,"abstract":"Purpose To introduce a new method for treating irido-corneal adhesion (ICA) by using argon laser. Case Presentation. A 60-year-old woman with advanced glaucoma who is undergoing trabeculectomy. In follow-up visits, choroidal effusion and iridocorneal adhesion were seen in the examination. The massive choroidal effusion was treated with medical therapy. In further follow-up examination, ICA was repaired with argon laser. Result Early laser treatment prior to surgical management is suggested in postoperative synechia. Conclusion Early argon laser synechiolysis is a less-invasive procedure which prevents probable surgical complications such as local detachment of Descemet's membrane or bleeding in surgical synechiolysis.","PeriodicalId":9603,"journal":{"name":"Case Reports in Ophthalmological Medicine","volume":"364 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74009215","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}
M. Bjeloš, M. Bušić, Anka Ćurić, D. Bosnar, B. Šarić, Leon Marković, B. K. Elabjer, Benedict Rak
Background Leber congenital amaurosis (LCA) is a monogenic, but genetically heterogenous disease, and at least 27 genes are implicated. This case report is aimed at providing evidence to link the novel variant RPE65 c.393T>A, p.(Asn131Lys), variant of uncertain significance (VUS), to clinical phenotype and to set the ground for objective assignment of pathogenicity confidence. Case Presentation. A case report of a female patient with LCA who manifested with nystagmus, night blindness, profound visual deficiency, and peripheral involvement of the retina consistent with RPE65 dystrophy. A thorough clinical examination, diagnostic evaluation, and genetic testing were performed. The patient was a compound heterozygote in trans form: RPE65 c.304G>T, p.(Glu102∗) pathogenic, and RPE65 c.393T>A, p.(Asn131Lys), VUS. The latter variant is absent in healthy controls and is considered harmful on in silico prediction. Conclusions We conclude that RPE65 c.393T>A, p.(Asn131Lys) contributed to the pathologic phenotype, demonstrating its significance clearly in the case presented, and should be reclassified according to the criteria of evidence as likely pathogenic. This being the case, patients with this specific variant are likely candidates for genetic treatment.
{"title":"RPE65 c.393T>A, p.(Asn131Lys): Novel Sequence Variant Detected","authors":"M. Bjeloš, M. Bušić, Anka Ćurić, D. Bosnar, B. Šarić, Leon Marković, B. K. Elabjer, Benedict Rak","doi":"10.1155/2022/5710080","DOIUrl":"https://doi.org/10.1155/2022/5710080","url":null,"abstract":"Background Leber congenital amaurosis (LCA) is a monogenic, but genetically heterogenous disease, and at least 27 genes are implicated. This case report is aimed at providing evidence to link the novel variant RPE65 c.393T>A, p.(Asn131Lys), variant of uncertain significance (VUS), to clinical phenotype and to set the ground for objective assignment of pathogenicity confidence. Case Presentation. A case report of a female patient with LCA who manifested with nystagmus, night blindness, profound visual deficiency, and peripheral involvement of the retina consistent with RPE65 dystrophy. A thorough clinical examination, diagnostic evaluation, and genetic testing were performed. The patient was a compound heterozygote in trans form: RPE65 c.304G>T, p.(Glu102∗) pathogenic, and RPE65 c.393T>A, p.(Asn131Lys), VUS. The latter variant is absent in healthy controls and is considered harmful on in silico prediction. Conclusions We conclude that RPE65 c.393T>A, p.(Asn131Lys) contributed to the pathologic phenotype, demonstrating its significance clearly in the case presented, and should be reclassified according to the criteria of evidence as likely pathogenic. This being the case, patients with this specific variant are likely candidates for genetic treatment.","PeriodicalId":9603,"journal":{"name":"Case Reports in Ophthalmological Medicine","volume":"12 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82747376","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}
A middle-aged lady presented with a firm, nontender mass on the left upper lid and area behind the left ear following lid reconstruction with postauricular graft for cicatricial ectropion 11 months prior. She had a similar mass on the right shin. She was diagnosed as a case of multiple keloids. Intralesional injection of triamcinolone acetonide suspension and 5-Fluorouracil (5-FU) in the upper lid keloid resulted in ulceration of its surface. Surgical excision, injection of 5-FU in the keloid bed with temporal forehead flap reconstruction, was performed. Occurrence of inadvertent postoperative wound infection with Acinetobacter baumannii was treated with local dressing with colistimethate sodium. Adjuvant therapy with topical imiquimod cream 5% was given subsequently for 24 weeks with no recurrence of the lid keloid after 16 months. The patient was managed using a combination of conservative and surgical therapy and multidisciplinary team work and kept on a long term follow-up.
{"title":"Challenges in the Management of Upper Lid Keloid","authors":"R. Goel, S. Khanam, Shalin Shah, R. Saran","doi":"10.1155/2022/3032246","DOIUrl":"https://doi.org/10.1155/2022/3032246","url":null,"abstract":"A middle-aged lady presented with a firm, nontender mass on the left upper lid and area behind the left ear following lid reconstruction with postauricular graft for cicatricial ectropion 11 months prior. She had a similar mass on the right shin. She was diagnosed as a case of multiple keloids. Intralesional injection of triamcinolone acetonide suspension and 5-Fluorouracil (5-FU) in the upper lid keloid resulted in ulceration of its surface. Surgical excision, injection of 5-FU in the keloid bed with temporal forehead flap reconstruction, was performed. Occurrence of inadvertent postoperative wound infection with Acinetobacter baumannii was treated with local dressing with colistimethate sodium. Adjuvant therapy with topical imiquimod cream 5% was given subsequently for 24 weeks with no recurrence of the lid keloid after 16 months. The patient was managed using a combination of conservative and surgical therapy and multidisciplinary team work and kept on a long term follow-up.","PeriodicalId":9603,"journal":{"name":"Case Reports in Ophthalmological Medicine","volume":"17 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82768253","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}
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