Romanian journal of ophthalmology最新文献

{"title":"Early-onset drusen in Malattia Leventinese with <i>EFEMP1</i> mutation differ from drusen in age-related macular degeneration.","authors":"Areeba Shakeel, Darshan Bhatt, Sarangapani Sripriya, Dhanashree Ratra","doi":"10.22336/rjo.2025.93","DOIUrl":"10.22336/rjo.2025.93","url":null,"abstract":"<p><strong>Purpose: </strong>To study the clinical, genetic, and phenotypic aspects of Malattia Leventinese (ML)/Doyne honeycomb retinal dystrophy (DHRD) and to differentiate it from age-related macular degeneration (AMD).</p><p><strong>Methods: </strong>Three cases of ML/DHRD from the Indian population were evaluated, including fundus examination, fundus autofluorescence (FAF), and swept-source optical coherence tomography (SSOCT). Genetic investigations involved screening for an inherited retinal gene panel using the Illumina MiSeq platform for one case. Pedigree charting, blood collection, DNA extraction, and variant annotation were performed, followed by pathogenicity assessment of the identified variants using multiple bioinformatics tools.</p><p><strong>Results: </strong>All cases exhibited early-onset central vision loss and small, radially distributed drusen, consistent with ML/DHRD. Genetic analysis done in patient one revealed a heterozygous, autosomal dominant, pathogenic mutation (c.1033C>T p.ARG345Trp) in the <i>EFEMP1</i> gene, confirming the ML diagnosis. Patient 1 had no late-stage complications, whereas patients 2 and 3 developed macular neovascularization (MNV). OCT showed gross thickening of the retinal pigment epithelium with hyperreflectivity, along with outer retinal tubulations (ORT) and interlaminar bridges, indicating outer retinal degeneration.</p><p><strong>Discussion: </strong>Malattia Leventinese is a rare autosomal dominant macular dystrophy caused by a single <i>EFEMP1</i> missense mutation (R345W), leading to early-onset radial or honeycomb drusen and central vision loss in the third decade. In this series, all patients showed typical radial drusen, with macular neovascularization in two cases, and demonstrated interlaminar bridges and ORTs on OCT. The mutant <i>EFEMP1</i> protein misfolds and accumulates abnormally between the RPE and Bruch's membrane, accelerating drusen formation. Some phenotypic variability, including intrafamilial differences, likely reflects additional genetic or environmental modifiers. The presence of the R345W mutation, age at onset, and drusen distribution pattern are crucial for differentiating ML/DHRD from AMD.</p><p><strong>Conclusion: </strong>The identified pathogenic <i>EFEMP1</i> mutation (R345W) established a molecular link to ML/DHRD. Typical phenotypic patterns and drusen characteristics can differentiate ML/DHRD from AMD.</p>","PeriodicalId":94355,"journal":{"name":"Romanian journal of ophthalmology","volume":"69 4","pages":"598-605"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13065107/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147679782","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":"Diagnostic Dilemma: Incipient Non-Arteritic Anterior Ischemic Optic Neuropathy vs. Steroid-Responsive Inflammatory Optic Neuropathy.","authors":"Aahan Shah, Mary Stephen, Amit Kumar Deb, Kalyan Basa","doi":"10.22336/rjo.2025.94","DOIUrl":"10.22336/rjo.2025.94","url":null,"abstract":"<p><strong>Objective: </strong>To highlight the diagnostic challenge of differentiating incipient non-arteritic anterior ischemic optic neuropathy (NAION) from inflammatory optic neuropathy in resource-limited settings.</p><p><strong>Methods: </strong>A male in his mid-50s with four days of painless progressive left-eye vision loss. Examination: OD crowded disc (CDR 0.3), OS 360°-disc edema (OCT RNFL 182 μm), Grade 1 RAPD, 360° visual field constriction. Investigations: OCT 30-2 fields, FFA (delayed disc filling, late leakage), HRCT brain/orbit, B-scan (ONSD 6.02 mm), labs (BP 126/82, PP2BS 146 mg/dL, elevated lipids and ESR, nonreactive VDRL). Treatment: aspirin 75 mg OD + prednisolone 1 mg/kg OD for a one-week trial.</p><p><strong>Results: </strong>At one week: OS edema resolved (RNFL 104 μm), vision improved to 6/9 OS, RAPD resolved; steroids tapered over 10 days. At two weeks: OS 6/6, fields markedly improved. At 10 weeks: maintained on pred 5 mg OD + aspirin; no recurrence.</p><p><strong>Discussion: </strong>The case highlights the complexity of distinguishing incipient NAION from steroid-responsive inflammatory optic neuropathy, particularly when clinical and angiographic features overlap. The dramatic improvement following a short steroid trial suggested an underlying inflammatory component despite the presence of structural risk factors for NAION. This therapeutic response emphasizes the diagnostic value of monitored steroid trials in ambiguous presentations. In resource-limited environments, such an approach may offer a pragmatic adjunct to standard diagnostic protocols.</p><p><strong>Conclusions: </strong>Rapid steroid response favored an inflammatory component over pure NAION. A crowded OD disc predisposed to NAION underscores the necessity for nuanced, individualized management. Therapeutic trials may aid diagnosis where advanced tests are inaccessible.</p>","PeriodicalId":94355,"journal":{"name":"Romanian journal of ophthalmology","volume":"69 4","pages":"606-610"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13065146/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147679775","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":"A Giant Acquired Dacryocystocele in Congenital Nasolacrimal Duct Obstruction.","authors":"Prabrisha Banerjee, Abhishek Gupta, Prabhakar Singh, Abhishek Verma, Shreeyaa Mohanty, Mahuya Chattopadhyay","doi":"10.22336/rjo.2025.92","DOIUrl":"10.22336/rjo.2025.92","url":null,"abstract":"<p><strong>Introduction: </strong>Dacryocystoceles are cystic dilatations of the lacrimal sac and nasolacrimal duct (NLD) due to the outflow obstruction at the Rosenmuller valve and the Hasner valve. Dacryocystoceles are rare in adults.</p><p><strong>Materials and methods: </strong>A retrospective case report.</p><p><strong>Case presentation: </strong>We describe the first case of an acquired dacryocystocele in a patient with bilateral congenital nasolacrimal duct obstruction (CNLDO). A 25-year-old treatment-naïve bilateral CNLDO male presented with a superolateral dystopia of the left globe, proptosis, and a non-tender cystic mass at the left medial canthal region for the past six months. Computed tomography (CT scan) revealed a cystic enlargement of the left lacrimal sac with a distended NLD forming a nasolacrimal duct mucocele. Bilaterally, external DCR was performed. Histopathology was consistent with chronic dacryocystitis.</p><p><strong>Discussion: </strong>Dacryocystoceles are rare in adults. They are either idiopathic or secondary to dacryocystitis, trauma, or dacryocystorhinostomy (DCR) surgery. In this case, the long-standing NLD obstruction has caused distention of the NLD and the lacrimal sac, leading to chronic fibroinflammatory changes in the Rosenmuller valve.</p><p><strong>Conclusion: </strong>Chronic fibroinflammatory changes in adult patients with untreated congenital nasolacrimal duct obstruction can cause dacryocystocele formation.</p>","PeriodicalId":94355,"journal":{"name":"Romanian journal of ophthalmology","volume":"69 4","pages":"595-597"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13065142/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147679802","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":"Augmented Reality in Ophthalmology.","authors":"Consuela-Mădălina Gheorghe","doi":"10.22336/rjo.2025.73","DOIUrl":"10.22336/rjo.2025.73","url":null,"abstract":"","PeriodicalId":94355,"journal":{"name":"Romanian journal of ophthalmology","volume":"69 4","pages":"465-466"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13065144/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147679772","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":"Lung metastasis with primary conjunctival mucoepidermoid carcinoma.","authors":"Francisco Calleja-Casado, Amparo Lanuza-García, Gemma Ortega-Prades, Sergio Alfredo Maugard-Tepper, Antonio Duch Samper","doi":"10.22336/rjo.2025.89","DOIUrl":"10.22336/rjo.2025.89","url":null,"abstract":"<p><strong>Background: </strong>Mucoepidermoid carcinoma of the conjunctiva is a rare, aggressive variant of squamous cell carcinoma, with limited reports of systemic metastasis.</p><p><strong>Case presentation: </strong>An 86-year-old man presented with a suspicious conjunctival lesion. Initial biopsy was inconclusive, but excision confirmed moderately differentiated mucoepidermoid carcinoma. Despite treatment, the tumor showed rapid orbital invasion. Imaging later revealed bilateral lung and liver metastases. Cytology confirmed metastatic spread. The patient died two months later.</p><p><strong>Discussion: </strong>Mucoepidermoid carcinoma of the conjunctiva is an uncommon and particularly aggressive variant of ocular surface squamous neoplasia, often underdiagnosed due to its mixed histological components. Compared with classic squamous cell carcinoma, it demonstrates higher rates of local recurrence, deeper orbital invasion, and a greater potential for regional spread. Although distant metastasis is exceedingly rare, our case illustrates that this subtype may disseminate rapidly and extensively despite early intervention. These findings highlight the importance of performing deep biopsies to avoid sampling error, ensuring complete histopathological assessment, and considering early systemic imaging when tumor behavior appears unusually aggressive.</p><p><strong>Conclusion: </strong>Conjunctival mucoepidermoid carcinoma may exhibit aggressive local and systemic behavior. Early deep biopsy, complete histological analysis, and systemic imaging are essential to guide appropriate management and detect rare but fatal metastases.</p>","PeriodicalId":94355,"journal":{"name":"Romanian journal of ophthalmology","volume":"69 4","pages":"580-586"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13065113/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147679874","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":"Progressive Inflammatory Coupling Drives Glaucoma Progression - a Longitudinal Analysis of Cytokine-RNFL Dynamics.","authors":"Raluca Neacșa, Daniela Manasia, Cristiana Tănase, Mădălina-Elena Tobă, Adina-Diana Moldovan","doi":"10.22336/rjo.2025.79","DOIUrl":"10.22336/rjo.2025.79","url":null,"abstract":"<p><strong>Background: </strong>Inflammatory biomarkers in glaucoma have shown promise but lack the longitudinal analysis necessary for clinical translation. We developed a comprehensive mixed-effects modeling approach to characterize temporal cytokine-RNFL dynamics and reveal patterns in the cytokine-RNFL progression.</p><p><strong>Methods: </strong>We analyzed a 24-month longitudinal cohort of 57 patients (19 each: controls, untreated POAG, treated POAG) using: (1) mixed-effects models with individual heterogeneity modeling; (2) censoring-informed cytokine analysis; and (3) temporal correlation network analysis.fi.</p><p><strong>Results: </strong>Mixed-effects models revealed significant group differences in RNFL progression: controls (-0.20 ± 0.10 μm/year), untreated POAG (-1.94 ± 0.54 μm/year), and treated POAG (-1.06 ± 0.49 μm/year). Cytokine censoring patterns provided biological validation-pro-inflammatory cytokines showed 1.37-fold higher detection in untreated POAG versus controls (TNF-alpha: 85.3% vs. 62.1%), independently confirming elevated disease inflammation. Temporal correlation analysis showed progressive inflammatory coupling, with the TNF-alpha of ~ IL6 correlation increasing from r = 0.23 to r = 0.49 over 24 months.</p><p><strong>Discussion: </strong>Our findings suggest that POAG pathogenesis can be linked to a progressive inflammatory dysregulation, in which other cytokines follow increases in an initial inflammatory cytokine. The doubling of the correlation between TNF alpha and IL6 over time could suggest that the disease progression could be self-amplifying.</p><p><strong>Conclusions: </strong>This study establishes that glaucoma involves progressive inflammatory coupling, in which initially independent cytokine signals evolve into self-reinforcing mechanisms. The differential censoring patterns provide compelling biological validation. These findings enable precision medicine approaches based on inflammatory phenotypes and support early intervention strategies targeting network establishment.</p>","PeriodicalId":94355,"journal":{"name":"Romanian journal of ophthalmology","volume":"69 4","pages":"512-518"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13065147/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147679603","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":"Comparison Between 3D Heads-Up Display System and Standard Operating Microscope in Diabetic Vitrectomy for Tractional Retinal Detachment.","authors":"Krinjeela Bazgain, Uday Pratap Singh Parmar, Deeksha Katoch, Basavaraj Tigari, Mohit Dogra, Ramandeep Singh","doi":"10.22336/rjo.2025.83","DOIUrl":"10.22336/rjo.2025.83","url":null,"abstract":"<p><strong>Background: </strong>Proliferative diabetic retinopathy (PDR) remains a significant cause of vision loss worldwide, often requiring pars plana vitrectomy (PPV) for tractional retinal detachment (TRD). The introduction of the 3D Heads-Up Display (HUD) system offers ergonomic and visualization advantages.</p><p><strong>Methods: </strong>This prospective interventional study involved eyes that underwent PPV for TRD. Group A underwent surgery using 3D HUD, while Group B utilised a standard operating microscope (SOM). Outcomes were assessed for surgical time, anatomical success, visual recovery, intraoperative variables, and postoperative complications.</p><p><strong>Results: </strong>The study included 94 eyes from 90 patients (47 eyes per group). Retinal reattachment was achieved in 100% of cases in both groups at 3 months postoperatively. Mean surgical time was significantly shorter in the 3D HUD group (51.50 ± 24.06 minutes) compared to SOM (67.33 ± 31.27 minutes; p = 0.004). Both groups significantly improved visual acuity, with the 3D HUD showing a superior mean LogMAR BCVA improvement at 3 months. Endoillumination levels were markedly lower with the 3D HUD, reducing the risk of phototoxicity. Surgeons reported greater depth perception, manoeuvrability, and teaching utility with the 3D HUD.</p><p><strong>Discussion: </strong>In this study, 3D HUD provided anatomical outcomes comparable to SOM while offering shorter surgical times, lower illumination requirements, and favourable visual recovery. These advantages likely stem from enhanced depth perception and improved ergonomics inherent to the 3D system. Overall, our findings support 3D HUD as a safe and efficient alternative for managing complex TRD cases.</p><p><strong>Conclusions: </strong>The 3D HUD system demonstrated comparable anatomical success, shorter surgical times, enhanced ergonomic benefits, and favourable visual outcomes compared to SOM.</p>","PeriodicalId":94355,"journal":{"name":"Romanian journal of ophthalmology","volume":"69 4","pages":"544-551"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13065151/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147679834","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":"Anatomical and functional results of plasma rich in growth factors as a treatment for poor-prognosis macular holes.","authors":"Marta Caminal-Caramés, Jaume Crespí Vilimelis, Carlos Oribio Quinto, Albert Saladrigas Pernias, Santiago Conversa, Alejandro Verdú Reyes, Jesús Díaz Cascajosa, Daniela Rego Lorca, Maria Pilar Piquer Pérez, José Ignacio Vela Segarra","doi":"10.22336/rjo.2025.81","DOIUrl":"10.22336/rjo.2025.81","url":null,"abstract":"<p><strong>Purpose: </strong>The management of poor-prognosis full-thickness macular holes (FTMH), considered as large, myopic, recurrent, or persistent, is challenging, and there is no consensus on the most suitable option. Plasma rich in growth factors (PRGF) is a subtype of platelet-rich plasma with a higher concentration of growth factors, which promotes Müller cell proliferation and, therefore, closure of FTMH. This study aims to analyze the benefits of injectable plasma rich in growth factors (iPRGF) as an adjuvant to PPV in poor-prognosis FTMH.</p><p><strong>Materials and methods: </strong>A prospective, non-randomized study was conducted in patients with poor-prognosis FTMH. Patients were treated with PPV associated with adjuvant iPRGF. Postoperative best corrected visual acuity (BCVA), FTMH closure, retinal layer restoration, and type of closure were analyzed.</p><p><strong>Results: </strong>A total of 12 eyes were included in the study. Complete closure of the FTMH was achieved in 92% of the patients, and BCVA improvement in 75%. Reconstitution of the external retinal layers was observed in 41% of the patients, and closure type 1A in 41%. No adverse effects were recorded.</p><p><strong>Discussion: </strong>The high closure rate and visual improvement suggest that iPRGF is a promising adjuvant in poor-prognosis FTMH, likely through Müller cell stimulation and glial-mediated tissue repair. Compared with more complex techniques such as inverted ILM flaps or autologous retinal transplants, iPRGF offers a more straightforward, safer, and faster approach, particularly in myopic or recurrent cases. The potential synergistic effect of combining iPRGF with ILM flap techniques warrants further investigation.</p><p><strong>Conclusion: </strong>The use of iPRGF may be an effective technique for achieving anatomical closure, restoring retinal layers, and improving final BCVA.</p>","PeriodicalId":94355,"journal":{"name":"Romanian journal of ophthalmology","volume":"69 4","pages":"528-535"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13065109/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147679807","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":"Correlation of CS and OCTA biomarkers in CSCR.","authors":"Shaffi Chopra, Satya Prakash Singh, Gyanmani Pandey, Kamal Jeet Singh, Vinod Kumar Singh, Parul Singh","doi":"10.22336/rjo.2025.86","DOIUrl":"10.22336/rjo.2025.86","url":null,"abstract":"<p><strong>Objective aim: </strong>To identify Optical Coherence Tomography Angiography (OCTA) biomarkers in eyes with acute Central Serous Chorioretinopathy (CSCR) and assess their correlation with contrast sensitivity (CS).</p><p><strong>Methods: </strong>In this prospective observational study, 32 eyes of 30 patients with acute CSCR underwent OCTA, spectral-domain OCT, and fluorescein angiography. Contrast sensitivity was measured using the Pelli-Robson chart.</p><p><strong>Results: </strong>OCTA revealed three types of abnormalities: dark areas in all eyes, dark spots in five eyes (associated with serous retinal detachment and pigment epithelium detachment), and abnormal vessels in twelve eyes. Mean baseline CS was 1.42, which improved to 1.78 at six-month follow-up (p < 0.001).</p><p><strong>Discussion: </strong>Although OCTA abnormalities varied, the presence of persistent dark areas correlated with reduced contrast sensitivity, emphasizing that structural recovery does not equate to functional recovery.</p><p><strong>Conclusions: </strong>Although visual acuity normalized in most cases, persistent OCTA abnormalities and reduced CS highlighted ongoing visual quality impairment, indicating that anatomical recovery does not equate to full functional recovery.</p>","PeriodicalId":94355,"journal":{"name":"Romanian journal of ophthalmology","volume":"69 4","pages":"562-566"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13065149/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147679849","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":"Cataracta Pulverulenta in Marfan Syndrome: An Atypical Ocular Presentation: Case Report.","authors":"Chhaparia Geetanjali, Kumar Santosh, Singh Vinod Kumar, Singh Manendra, Rawat Ayusha, Verma Sonam, Beg Mirza Maariyam","doi":"10.22336/rjo.2025.90","DOIUrl":"10.22336/rjo.2025.90","url":null,"abstract":"<p><strong>Aim: </strong>To report a rare ocular presentation of cataracta pulverulenta in a patient with Marfan syndrome in the absence of classical lens subluxation.</p><p><strong>Method: </strong>A 14-year-old male presenting with severe bilateral diminution of vision underwent ophthalmic examination and systemic workup. Slit-lamp biomicroscopy, echocardiography, and physical assessment were performed. The patient underwent manual small incision cataract surgery (MSICS) with intraocular lens implantation.</p><p><strong>Result: </strong>Slit-lamp evaluation revealed bilateral cataracta pulverulenta without ectopia lentis. Systemic findings included long arm span (arm span to height ratio of 1.35), high-arched palate, pectus excavatum, nasal voice, and echocardiographic evidence of a 9 mm atrial septal defect with trace mitral and tricuspid regurgitation. The systemic Ghent score exceeded the diagnostic threshold for Marfan syndrome. Postoperative corrected visual acuity improved to 6/6 in the operated eye.</p><p><strong>Discussion: </strong>Marfan syndrome is traditionally associated with ectopia lentis as its most characteristic ocular manifestation; however, this case demonstrates that cataracta pulverulenta may occur as an uncommon and diagnostically significant presentation even in the absence of lens displacement. The detection of fine, central nuclear lens opacities in a pediatric patient should raise clinical suspicion of an underlying connective tissue disorder, particularly when subtle skeletal and cardiovascular features coexist. Abnormal fibrillin-1 may contribute to atypical lens development, accounting for such non-classical cataract patterns in Marfan syndrome. Recognition of this rare presentation is essential, as it facilitates early systemic evaluation and confirmation using the Ghent criteria, allowing timely multidisciplinary care. Moreover, the excellent visual recovery following manual small incision cataract surgery highlights that early surgical management of syndromic cataracts can yield favorable outcomes and underscores the essential role of ophthalmologists in identifying systemic diseases through ocular signs.</p><p><strong>Conclusion: </strong>While ectopia lentis is the most common ocular manifestation of Marfan syndrome, cataracta pulverulenta may also be a rare but significant finding. This case underscores the importance of thorough ocular and systemic evaluation in pediatric cataract patients, as ophthalmic anomalies may be the first clue to underlying systemic connective tissue disorders, such as Marfan syndrome.</p>","PeriodicalId":94355,"journal":{"name":"Romanian journal of ophthalmology","volume":"69 4","pages":"587-591"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13065112/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147679813","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}