Josephine R Seela, Jade Y Moon, Sandra R Montezuma
{"title":"Rare Presentation of Attenuated Mucopolysaccharidosis Type IIIA as Isolated Retinitis Pigmentosa.","authors":"Josephine R Seela, Jade Y Moon, Sandra R Montezuma","doi":"10.1177/24741264251340108","DOIUrl":"https://doi.org/10.1177/24741264251340108","url":null,"abstract":"<p><p><b>Purpose:</b> To describe a patient presenting in adulthood with isolated retinopathy found to have mucopolysaccharidosis type IIIA. <b>Methods:</b> A single case was evaluated. <b>Results:</b> A 36-year-old man presented with 5 years of worsening peripheral vision and night vision. The initial examination and testing raised concern for rod-cone dystrophy. Genetic testing with an Invitae Inherited Retinal Disorders Panel showed 2 variants of <i>SGSH</i>, which is associated with mucopolysaccharidosis type IIIA. Laboratory testing showed low heparan-N-sulfatase levels and elevated heparan sulfate levels. These results and a thorough review of the literature support a diagnosis of mild attenuated non-neuronopathic mucopolysaccharidosis type IIIA. <b>Conclusions:</b> This case highlights the necessity for collaboration with genetic counselors and the value of a provider's clinical acumen in interpreting genetic testing results. Furthermore, the importance of considering mucopolysaccharidosis type IIIA when adult patients present with new-onset isolated retinitis pigmentosa is emphasized.</p>","PeriodicalId":17919,"journal":{"name":"Journal of VitreoRetinal Diseases","volume":" ","pages":"24741264251340108"},"PeriodicalIF":0.5,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12065709/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143971225","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Bandage Contact Lens as an Alternative to a Temporary Keratoprosthesis for Vitrectomy With Concurrent Corneal Opacity.","authors":"Marta Latasiewicz, Mike Adams, Youssef Helmy","doi":"10.1177/24741264251340110","DOIUrl":"https://doi.org/10.1177/24741264251340110","url":null,"abstract":"<p><p><b>Purpose:</b> To present a case of a bandage contact lens being used as an alternative to a temporary keratoprosthesis for urgent vitreoretinal surgery. <b>Methods:</b> A single case was evaluated. <b>Results:</b> A 72-year-old man with monocular vision presented with a retinal detachment (RD) after repair of a traumatic globe rupture. His ocular history included previous penetrating keratoplasty (PKP) and RD surgery in the eye that had visual ability. The previous corneal graft was opacified and a conventional temporary keratoprosthesis was unavailable. After removal of the corneal graft, a bandage contact lens was used as an alternative to a temporary keratoprosthesis. Subsequently, pars plana vitrectomy and a PKP were performed. The bandage contact lens provided excellent visualization for the vitrectomy and resulted in a successful final outcome. <b>Conclusions:</b> When corneal opacity precludes vitrectomy and a temporary keratoprosthesis is unavailable, a bandage contact lens is a viable option.</p>","PeriodicalId":17919,"journal":{"name":"Journal of VitreoRetinal Diseases","volume":" ","pages":"24741264251340110"},"PeriodicalIF":0.5,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12058697/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144030054","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Purtscher-Like Retinopathy After Acute Ischemic Colitis.","authors":"Smaran Teru, Cory A Christensen, Jamin Brown","doi":"10.1177/24741264251338038","DOIUrl":"https://doi.org/10.1177/24741264251338038","url":null,"abstract":"<p><p><b>Purpose:</b> To describe a case of Purtscher retinopathy, a rare microvascular process hypothesized to have an occlusive etiology. <b>Methods:</b> A single case was evaluated. <b>Results:</b> A 72-year-old White woman presented with acute, painless bilateral vision loss and severe abdominal pain. She was hospitalized for ischemic colitis of unknown origin. Although her symptoms were improving, funduscopic examination findings of retinal hemorrhages, cotton-wool spots, and Purtscher flecken prompted a referral to ophthalmology. The diagnosis of Purtscher-like retinopathy was made, and treatment of her precipitating ischemic colitis resolved her visual symptoms. <b>Conclusions:</b> Purtscher-like retinopathy is a rare clinical diagnosis of exclusion. By describing a previously unreported etiology, this case may improve our understanding of the pathogenesis, management, and treatment of this rare retinopathy.</p>","PeriodicalId":17919,"journal":{"name":"Journal of VitreoRetinal Diseases","volume":" ","pages":"24741264251338038"},"PeriodicalIF":0.5,"publicationDate":"2025-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12049366/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143971437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Long-Term Follow-up of Cytomegalovirus Retinitis in an Immunocompetent Patient.","authors":"Michael J Maywood, Lisa J Faia, Tedi Begaj","doi":"10.1177/24741264251338042","DOIUrl":"https://doi.org/10.1177/24741264251338042","url":null,"abstract":"<p><p><b>Purpose:</b> To describe the long-term follow-up of an immunocompetent patient with cytomegalovirus (CMV) retinitis. <b>Methods:</b> A single case was analyzed and a literature review performed. <b>Results:</b> A 47-year-old woman presented with a paracentral scotoma in the left eye. Examination showed parafoveal retinitis. An aqueous fluid tap was positive for CMV on polymerase chain reaction; however, there was no recent surgery or local or systemic immunosuppression. A thorough workup, including pan imaging, was unremarkable. The retinitis resolved with oral valganciclovir and adjuvant intravitreal ganciclovir and foscarnet injections. At the 3-year follow-up, the patient's disease was inactive without development of systemic illness. <b>Conclusions:</b> In patients presenting with retinitis, the diagnostic use of aqueous polymerase chain reaction is critical, especially in atypical cases in which the retinitis might be associated with CMV.</p>","PeriodicalId":17919,"journal":{"name":"Journal of VitreoRetinal Diseases","volume":" ","pages":"24741264251338042"},"PeriodicalIF":0.5,"publicationDate":"2025-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12049361/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143970998","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Wavefront Aberrometry in Pseudophakic Patients Before and After Vitrectomy for Bothersome Floaters.","authors":"Daniel A Adelberg, Mark T Parsons","doi":"10.1177/24741264251333200","DOIUrl":"https://doi.org/10.1177/24741264251333200","url":null,"abstract":"<p><p><b>Introduction:</b> To investigate whether the outcome of patients with persistent bothersome floaters who are managed with vitrectomy can be correlated with improvements in higher-order aberrations with wavefront aberrometry. <b>Methods:</b> Pseudophakic patients who had 27-gauge vitrectomy for persistent floaters and whose clinical assessment included preoperative and postoperative wavefront aberrometry were included. The primary outcome was the change in the higher-order aberration percentage measured by wavefront aberrometry. <b>Results:</b> The study included 76 eyes of 66 patients with a mean age (±SD) of 67.8 ± 7.5 years. The Snellen visual acuity improved from 20/32 preoperatively to 20/25 postoperatively (<i>P</i> = .004). Wavefront aberrometry showed a highly significant reduction in the higher-order aberration percentage (<i>P</i> < .000001), with a mean preoperative percentage of 53.9 and a mean postoperative percentage of 38.3. Subgroup analysis found a significant reduction in patients with no previous posterior capsulotomy (<i>P</i> = .001), previous neodymium:YAG capsulotomy (<i>P</i> < .000001), a monofocal intraocular lens (IOL) (<i>P</i> < .000001), and a multifocal IOL (<i>P</i> = .006). There was no significant difference in the mean preoperative and postoperative pupil size, sphere, cylinder, or spherical equivalent. <b>Conclusions:</b> Wavefront aberrometry demonstrates an objective, significant reduction in higher-order aberrations immediately after vitrectomy in pseudophakic patients with bothersome floaters.</p>","PeriodicalId":17919,"journal":{"name":"Journal of VitreoRetinal Diseases","volume":" ","pages":"24741264251333200"},"PeriodicalIF":0.5,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12040847/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144041853","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Bullous Central Serous Chorioretinopathy Associated With JAK Inhibitor Use.","authors":"Warren Apel, Ye Li","doi":"10.1177/24741264251337104","DOIUrl":"https://doi.org/10.1177/24741264251337104","url":null,"abstract":"<p><p><b>Purpose:</b> To report a case of bullous central serous chorioretinopathy (CSCR) after starting a Janus kinase (JAK) inhibitor and describe the results of focal laser treatment. <b>Methods:</b> A single case was evaluated. <b>Results:</b> A 54-year-old man with rheumatoid arthritis presented with a 2-week history of left superior field loss. His medications included prednisone 10 mg and upadacitinib, which was added to his regimen 3 weeks previously. His visual acuity (VA) was 20/25 OD and 20/30 OS. An ophthalmic examination of the left eye found an ill-defined white lesion of 2 × 3 disc diameters at the macula with an inferior retinal detachment (RD). Optical coherence tomography showed subretinal fibrin with subretinal fluid (SRF) and a pigment epithelial detachment. After a diagnosis of bullous CSCR was made, focal laser application was performed. One year later, the patient's VA recovered to 20/20 with resolved SRF. <b>Conclusions:</b> Bullous CSCR with a serous RD is an uncommon subtype of pachychoroid disease. Upadacitinib may be associated with its occurrence through disequilibrium of the coagulation cascade. Focal laser treatment offers a favorable outcome for this disease.</p>","PeriodicalId":17919,"journal":{"name":"Journal of VitreoRetinal Diseases","volume":" ","pages":"24741264251337104"},"PeriodicalIF":0.5,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12031730/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144006706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Intravitreal Aflibercept With vs Without Pneumatic Displacement for Submacular Hemorrhage Associated With Polypoidal Choroidal Vasculopathy.","authors":"Taku Wakabayashi, Chikako Hara, Akihiko Shiraki, Nobuhiko Shiraki, Yoko Fukushima, Susumu Sakimoto, Kaori Sayanagi, Kentaro Nishida, Shigeru Sato, Hirokazu Sakaguchi, Kohji Nishida","doi":"10.1177/24741264251335629","DOIUrl":"https://doi.org/10.1177/24741264251335629","url":null,"abstract":"<p><p><b>Purpose:</b> To compare the visual outcomes of intravitreal (IVT) aflibercept with pneumatic displacement vs without pneumatic displacement for submacular hemorrhage (SMH) associated with polypoidal choroidal vasculopathy (PCV). <b>Methods:</b> This retrospective study assessed patients with SMH associated with PCV who were treated with aflibercept and pneumatic displacement with gas (aflibercept+gas group) or with aflibercept alone (monotherapy group). Patients were followed for at least 12 months, with the best-corrected visual acuity (BCVA) at 12 months the primary outcome measure. <b>Results:</b> Forty-seven eyes of 47 patients were retrospectively analyzed from August 2013 to March 2023. The aflibercept+gas group comprised 25 eyes and the monotherapy group, 22 eyes. The 2 groups had comparable baseline characteristics. The mean logMAR best-corrected visual acuity (BCVA) before treatment was 0.78 ± 0.46 in the aflibercept+gas group and 0.83 ± 0.66 in the monotherapy group (<i>P</i> = .76). The mean BCVA (0.26 ± 0.42 vs 0.85 ± 0.57) and the mean change in (-0.52 ± 0.55 vs 0.02 ± 0.75) 12 months postoperatively was significantly better in the aflibercept+gas group than in the monotherapy group (<i>P</i> < .001 and <i>P</i> < .008, respectively). The BCVA improved by 3 or more lines in 60.0% of eyes in the aflibercept+gas group but in only 18.2% of eyes in the monotherapy group. Vitreous hemorrhage developed in 16.0% of eyes in the aflibercept+gas group and in 13.6% of eyes in the monotherapy group and retinal detachment in 4.0% and 0%, respectively (both <i>P</i> = 1.000). <b>Conclusions:</b> Better visual outcomes were achieved with IVT aflibercept and pneumatic displacement than with aflibercept alone for SMH associated with PCV.</p>","PeriodicalId":17919,"journal":{"name":"Journal of VitreoRetinal Diseases","volume":" ","pages":"24741264251335629"},"PeriodicalIF":0.5,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12031733/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143971458","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cancer-Associated Retinopathy Presenting as Panuveitis Secondary to Minimally Invasive Follicular Thyroid Carcinoma.","authors":"Natalie Arnold, Amit Mishra, Mark Seamone","doi":"10.1177/24741264251337108","DOIUrl":"https://doi.org/10.1177/24741264251337108","url":null,"abstract":"<p><p><b>Purpose:</b> To describe a case of cancer-associated retinopathy (CAR) secondary to follicular thyroid carcinoma. <b>Methods:</b> A single retrospective case was evaluated. <b>Results:</b> A 68-year-old woman presented with floaters and decreased vision in the right eye and was found to have panuveitis. The left eye subsequently developed panuveitis 6 months later, ultimately resulting in retinal atrophy. Extensive investigations, including vitreous biopsies, imaging, and positron emission tomography, led to a diagnosis of CAR secondary to minimally invasive follicular thyroid carcinoma with serology positive for anti-enolase, anti-HSP60, and anti-glyceraldehyde-3-phosphate dehydrogenase. <b>Conclusions:</b> Cases of CAR secondary to minimally invasive follicular thyroid carcinoma are rare. Ensuring an early diagnosis and promptly initiating treatment, with a goal of preserving sight, are imperative.</p>","PeriodicalId":17919,"journal":{"name":"Journal of VitreoRetinal Diseases","volume":" ","pages":"24741264251337108"},"PeriodicalIF":0.5,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12031738/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144033815","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}
Natalia C González, Victor M Villegas, Aaron S Gold, Azeema Latiff, Timothy G Murray
{"title":"Early Treatment in Patients With Small and Medium-Small Class 2 Gene Expression Profiling Uveal Melanoma to Reduce Mortality.","authors":"Natalia C González, Victor M Villegas, Aaron S Gold, Azeema Latiff, Timothy G Murray","doi":"10.1177/24741264251337101","DOIUrl":"https://doi.org/10.1177/24741264251337101","url":null,"abstract":"<p><p><b>Purpose:</b> To evaluate the class 2 gene expression profiling of patients with small and medium-small uveal melanoma, focusing on tumor control, metastases, and mortality. <b>Methods:</b> This retrospective case series evaluated patients treated for small or medium-small uveal melanoma by the same surgeon. Patients with small uveal melanoma were treated with microincision vitrectomy surgery or brachytherapy, and patients with medium-small uveal melanoma were treated with brachytherapy. All patients were gene expression profiling class 2. <b>Results:</b> Forty-two patients (21 with a diagnosis of small melanoma; 21 with a diagnosis of medium-small melanoma) with a mean age of 58 years and a confirmed diagnosis of class 2 gene expression profiling melanoma were identified. The melanoma-specific mortality at the 5-year follow-up was 4.8% (1/21) for patients with small melanoma and 14.3% (3/21) for patients with medium-small melanoma. The rate of melanoma-specific active metastasis at 5 years was 4.8% (1/21) for patients with small melanoma and 14.3% (3/21) for patients with medium-small melanoma. In both groups, the enucleation rate at 5 years was 0%. <b>Conclusions:</b> Small tumor management achieves excellent anatomic and visual outcomes but mandates diagnostic accuracy and defined long-term outcomes as well as follow-up (5-year minimum in this series). Gene expression profiling classification is important in prognostication; however, early treatment of small tumors significantly decreases the predicted mortality and has the greatest potential effect on patient survival, even for class 2 melanomas.</p>","PeriodicalId":17919,"journal":{"name":"Journal of VitreoRetinal Diseases","volume":" ","pages":"24741264251337101"},"PeriodicalIF":0.5,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12031732/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143970963","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}
Christine Hill, Dimitrios C Arhontoulis, Huyen Bui, Sarah M DeVaro, Peter H Tang
{"title":"Bilateral Sterile Granulomatous Uveitis Caused by Intravitreal Injections of Faricimab.","authors":"Christine Hill, Dimitrios C Arhontoulis, Huyen Bui, Sarah M DeVaro, Peter H Tang","doi":"10.1177/24741264251330339","DOIUrl":"https://doi.org/10.1177/24741264251330339","url":null,"abstract":"<p><p><b>Purpose:</b> To describe a case of severe bilateral granulomatous uveitis caused by treatment with faricimab. <b>Methods:</b> A single case was reviewed. <b>Results:</b> A 79-year-old woman with diabetic macular edema developed severe uveitis OU 16 days after bilateral intravitreal (IVT) injections of faricimab. The patient's visual acuity (VA) was hand motions OD and 20/400 OS. She refused IVT antibiotics at bedside but consented to an emergency pars plana vitrectomy (PPV) OU. The laboratory workup for infectious and autoimmune etiologies was unremarkable, as were bacterial and fungal cultures from the PPV. High-dose systemic steroids were initiated after surgery. The patient's VA recovered to 20/30 OD and 20/25 OS. <b>Conclusions:</b> Reports of severe uveitis resulting from injections of faricimab have been documented. We describe a unique case in which the patient with granulomatous uveitis OU experienced a significant decline in vision. With high-dose systemic steroid therapy and surgical intervention, her VA recovered to near baseline.</p>","PeriodicalId":17919,"journal":{"name":"Journal of VitreoRetinal Diseases","volume":" ","pages":"24741264251330339"},"PeriodicalIF":0.5,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12012491/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143989554","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}