Posterior vitreous detachment (PVD) is considered a key event in the pathogenesis of rhegmatogenous retinal detachment (RRD), and horseshoe retinal tears are generally associated with vitreoretinal traction during PVD evolution. We report the longitudinal progression of horseshoe retinal tear-associated RRD without clinically evident complete PVD. A 64-year-old nonmyopic man presented to a general ophthalmology clinic with floaters and preserved visual acuity. Retrospective review of baseline ultrawidefield (UWF) imaging demonstrated a horseshoe retinal tear with localized macula-on temporal RRD extending to within approximately 2.5 disc diameters of the fovea, which had not been recognized initially. Posterior-pole optical coherence tomography (OCT) showed posterior hyaloid attachment at the macula and optic nerve head, without clinically evident complete PVD. However, posterior-pole OCT could not exclude localized peripheral vitreous separation or focal vitreoretinal adhesion adjacent to the tear. Approximately 6 months later, the patient presented with acute visual deterioration, and the detachment had progressed to a bullous macula-off RRD arising from the same tear. PVD was induced during pars plana vitrectomy. This case documents longitudinal progression of localized horseshoe retinal tear-associated RRD without clinically evident complete PVD. Although the underlying mechanism remains inferential, the clinical course is compatible with focal peripheral traction occurring before complete PVD becomes clinically evident. In symptomatic patients, preserved central visual acuity, unremarkable posterior-pole findings, and absence of clinically evident complete PVD should not lower concern for peripheral vitreoretinal traction, retinal breaks, or RRD. Meticulous peripheral retinal examination and intentional review of the temporal retina on UWF imaging remain essential.
Diplopia is a common chief complaint in the ophthalmology clinic, and it is important to differentiate diplopia requiring urgent work-up versus benign forms of diplopia that can be managed conservatively. This case demonstrates a 39-year-old male who reported the ability to move each eye independently resulting in chronic binocular diplopia. He reported having an extensive work-up done by an outside ophthalmologist that returned unremarkable. His glasses on presentation had a mild myopic correction in both eyes (OU), 1.50 prism diopters (PD) base up (BU) in the right eye (OD), and 0.50 PD BU in the left eye (OS), which helped intermittently-but not completely-resolve his diplopia. On presentation, his visual acuity (VA) was 20/20 OU with correction. He had a normal sensorimotor exam, including being orthotropic in primary gaze, having full motility OU, having normal saccades OU, and having no nystagmus OU. The patient voluntarily moved his eyes in a rhythmic sequence of convergence ➔ left gaze ➔ convergence ➔ right gaze ➔ convergence ➔ repeat. This sequence can initially appear to exhibit independent movement of each eye when done rapidly, but close examination can expose it as simple voluntary ductions and vergences that fall within the domain of normal ocular motility. With proper education, reassurance, and follow-up, the patient's subjective visual disturbances improved. Prompt recognition of this motility sequence can result in favorable visual improvements and avoidance of unnecessary work-up.
Retinitis pigmentosa (RP) is a genetically heterogeneous disease characterized by progressive vision loss and blindness, primarily due to the degeneration of cone photoreceptor cells. The classic symptoms include a decline in visual acuity and retinal atrophy. In this study, whole-exome sequencing (WES) was performed on a 40-year-old man from a nonconsanguineous Iranian-Azeri Turkish family, who was diagnosed with vision loss and blindness at age 40. DNA was extracted from the proband, his healthy brother, sister, and mother to conduct segregation analysis. WES analysis revealed a hemizygous mutation in a single nucleotide (NC_000023.11)(NM_001034853.2) c.194G>T, located in exon 3 of the RPGR gene. In silico analysis suggested that this mutation likely activates a new cryptic donor site. Segregation analysis confirmed that the variant was absent in the mother and healthy siblings, indicating that it is a de novo mutation. We also screened a cohort of 430 healthy individuals from the same ethnic group, finding no occurrence of the variant. The presence of this de novo mutation, its absence among controls from the same ethnic background, and bioinformatics analysis collectively suggest the pathogenicity of the identified variant.
Introduction:Orbital schwannoma is a rare tumor that can occur in any orbital compartment, posing a diagnostic challenge for clinicians. Case Presentation:We report a 35-year-old male who presented with a visible schwannoma in the inferomedial orbital angle. Our patient was treated with en bloc transconjunctival surgical resection without complications. Discussion:Only 35 cases of anterior orbital schwannomas have been reported in the literature. The majority of these masses were superior or superomedial. The nerve of origin was able to be identified in 42.9% of cases only, and the schwannoma arose from the frontal nerve or its branches in about half of these cases. Surgery was the standard of care, although in a few cases small masses were just observed. None of the reported cases has neurofibromatosis. This case highlights the importance of considering schwannoma in the differential diagnosis of anterior orbital masses in any of its anatomical compartments.
Purpose:This study is aimed at reporting a case of choroidal osteoma in a young boy complicated by choroidal neovascularization (CNV) and describing its clinical course over 9 months following intravitreal aflibercept injections. Observation:A 7-year-old boy presented with a 2-month history of decreased vision in his left eye. Clinical examination and multimodal imaging revealed a central choroidal osteoma complicated by an active CNV with associated subretinal hemorrhage and fluid. The patient was treated with intravitreal aflibercept under general anesthesia. Follow-up visits demonstrated early anatomical improvement, with resolution of subretinal hemorrhage and fluid. However, recurrent CNV activity and fluctuating visual acuity were observed. Conclusion:Although choroidal osteoma is more commonly reported in adult females, it should also be considered in young boys. Early treatment with aflibercept was associated with short-term anatomical and transient functional improvements in the management of CNV secondary to choroidal osteoma. However, visual acuity fluctuated during follow-up visits, necessitating recurrent CNV injections. Therefore, regular follow-up is essential due to the risk of recurrence and to preserve long-term visual acuity. Given the rarity of this condition, further studies with larger sample sizes and extended follow-up periods are required to evaluate the effectiveness of anti-vascular endothelial growth factor therapy and establish evidence-based management guidelines.
Introduction:Although papillary traction often arises from anomalous vitreous detachment, it can be related to traction from persistent remnants of the fetal hyaloid vasculature. Case Presentation:A 17-year-old girl with Aymé-Gripp syndrome was incidentally found to have bilateral optic nerve elevation in the setting of bilateral persistent hyaloid vessel remnants causing papillary traction. Brain imaging was unremarkable. Conclusion:This case highlights the rare occurrence of bilateral papillary traction in a young patient with a genetic syndrome and underscores the importance of considering papillary traction in the differential diagnosis of optic nerve elevation.
Purpose:This study aims to report a case of tuberculosis involving central nervous system (CNS) discovered thanks to tubercular endophathlmitis. Methods:This is a case report. Observation:A 14-year-old male presented with acute visual loss, ocular pain, and redness of the right eye following a recent stay in India. The clinical history was notable for prolonged fever, night sweats, and headache. Ophthalmological examination revealed severe intraocular inflammation consistent with panuveitis and endophthalmitis. Neuroimaging demonstrated a large ring-enhancing lesion in the right hemisphere with significant mass effect. Initial microbiological investigations, including vitreous sampling, were negative. A positive interferon-gamma release assay and radiological findings raised suspicion for disseminated tuberculosis, and Mycobacterium tuberculosis DNA was subsequently detected in vitreous samples after repeating a second vitrectomy. Antitubercular therapy was started and definitive diagnosis was made with biopsy of the brain lesion, which demonstrated positive cultures for drug-sensitive M. tuberculosis. The clinical course was complicated by retinal detachment, paradoxical enlargement of the cerebral tuberculoma, and postoperative neurological deficits requiring surgical intervention and rehabilitation. Conclusion:This case highlights the diagnostic complexity of ocular and CNS tuberculosis and emphasizes the need for a high index of suspicion, repeated targeted sampling, and multidisciplinary management to achieve timely diagnosis and appropriate treatment.
Introduction:To report an unusual epiretinal proliferation (EP) case in tubercular serpiginous-like choroiditis. Case Presentation:A 30-year-old female patient with a history of uveitis presented with blurry vision and floaters for 5 days. The visual acuities of the right and left eyes were 7/10 and 9/10, respectively. A slit lamp examination of the right eye showed moderate anterior uveitis with anterior chamber cells of 2+ and 1+ cells in the anterior vitreous. The left eye showed a posterior synechia at the inferior half of the pupil but no cells in the anterior chamber. Mild vitritis was observed in both eyes. A fundus examination revealed two atrophic punch-out lesions in the right eye and multiple pigmented chorioretinal scar-like lesions in the left eye. OCT showed cystoid macular edema in the right eye and a wide epiretinal proliferative membrane in the left eye. The immunocompetent patient had a family history of tuberculosis (TB) infection. The tuberculin skin test resulted in a ≥ 20-mm induration, and the QuantiFERON-TB Gold test was positive. The patient was started on topical and oral steroids. Additionally, anti-TB treatment was added, leading to a favorable outcome. Following treatment, signs of panuveitis showed resolution, and there was an improvement in vision symptoms. Conclusions:To our knowledge, this may represent one of the first reported cases of EP associated with tubercular serpiginous-like choroiditis.
Purpose:The purpose of this study is to report a case of unilateral central retinal artery occlusion (CRAO) as a rare ophthalmic complication following bilateral cosmetic blepharoplasty in a young patient and to highlight its probable causes, management, and preventive considerations. Methods:A 31-year-old gentleman, with no known comorbidities, presented with complaints of vision loss in the left eye for 6 weeks after undergoing bilateral cosmetic blepharoplasty. At presentation, the best corrected visual acuity (BCVA) was 20/25 in the right eye (OD) and no perception of light (NPL) in the left eye (OS). Intraocular pressure (IOP) was 14 mmHg in both eyes (OU). Pupillary examination revealed a round, regular, and reactive pupil in the right eye, whereas the left pupil was mid-dilated and nonreactive, with a positive relative afferent pupillary defect (RAPD). The fellow eye remained asymptomatic following surgery. Results:At presentation, optical coherence tomography (OCT) was performed, and it demonstrated marked thinning of the inner retinal layers, consistent with chronic CRAO in the left eye. Given the rarity of CRAO in young individuals, a comprehensive systemic workup was performed, including hematological, inflammatory, coagulation, autoimmune, and cardiac evaluations. All investigations were within normal limits. Conclusion:CRAO can occur as a rare postoperative complication of cosmetic blepharoplasty. Early recognition, prompt management, and careful postoperative monitoring may prevent the risk of such complications.
Introduction:The scleral buckling (SB) or encircling buckle technique has been employed in the management of rhegmatogenous retinal detachment (RRD). While encircling buckle technique offers substantial assistance in managing RRD, particularly for cases involving numerous breaks or extensive detachments, this procedure is time-consuming and associated with complications such as anterior segment ischemia. In contrast, segmental scleral buckling (SSB) provides a more targeted approach for correcting retinal detachments. Thus, SSB is technically straightforward in the hands of an experienced vitreoretinal surgeon. Herein, we delineate anatomical and functional results of SSB in RRD patients. Result:Seven consecutive patients (seven eyes) with primary RRD were treated with the SSB technique and followed up for 6 months. Postoperatively, all seven individuals exhibited satisfactory buckle positioning and height, with retinal detachments resolving within 24 h. Subretinal fluid drainage was required in five of seven eyes, reflecting the relatively bullous nature of most detachments, whereas two eyes were successfully reattached without drainage. At both 1- and 6-month follow-ups, anatomical and functional improvements were maintained, demonstrating a 100% reattachment rate with no reported surgical complications or instances of redetachment. Conclusion:In this small, consecutive case series from a tertiary referral centre in Indonesia, SSB achieved favourable anatomical and functional outcomes at 6 months, with no redetachment or serious complications. The procedure was well tolerated, and in our resource-limited setting, the material costs were lower than those of encircling buckling or vitrectomy based on local procurement prices, although we did not conduct a formal economic analysis. We therefore suggest that SSB remains a reasonable primary option for selected RRD cases, particularly in young, myopic patients with a single break. Larger, ideally multicentre studies are needed to confirm these observations and to explore generalisability to less experienced surgeons.
This study describes the outcomes of femtosecond laser-assisted cataract surgery (FLACS) in patients with prior corneal scarring and prior anterior lamellar keratoplasty (ALK). Two male patients, aged 65 and 61 years, presented for cataract surgery with a central corneal scar and previous ALK, respectively. Both underwent standard FLACS to address their cataracts amidst these complex corneal conditions. The procedure successfully achieved a centered 5.0 mm capsulotomy without tags or tears, and the lens was segmented into a sextant pattern and removed without difficulty. No serious intraoperative complications occurred. In the first case, best corrected visual acuity improved from 20/150 to 20/40 at 1-month postoperation, with the patient reporting enhanced visual clarity. In the second case, visual acuity improved from 20/800 to 20/100 1 month after surgery, with further enhancement to 20/60 following scleral lens fitting. This study represents an existing technique on the use of FLACS in patients with ALK and corneal scarring. The findings demonstrate that FLACS can be effectively and safely performed in these challenging cases, providing valuable insights into its potential advantages over traditional manual cataract surgery, particularly in patients with compromised ocular structures and limited lens visibility.
Purpose:To report a case of a macular neovascular membrane (MNV) 14 years after an episode of acute posterior multifocal placoid pigment epitheliopathy (APMPPE). Methods:Case report. Results:A 22-year-old man presented with acute bilateral blurred vision. The best corrected visual acuity (VA) was 20/200 in both eyes. Fundus examination revealed bilateral multiple yellow-gray placoid lesions and macular serous detachments. Multimodal imaging and a systemic workup excluded systemic inflammatory or infectious diseases, confirming the diagnosis of APMPPE. The patient was treated with triamcinolone acetonide, an intravitreal injection in the right eye, and a posterior subtenon injection in the left eye. At the 8-week follow-up, the fundus lesions healed, with resolution of the macular serous detachment in both eyes. The VA improved to 20/63 bilaterally. After being lost to follow-up for 14 years, the patient presented sudden worsening of vision in the left eye. The VA decreased to 20/400 in the left eye due to an extensive subretinal hemorrhage and hard exudates in the macula. After diagnostic confirmation of a Type 2 MNV by optical coherence tomography angiography, the patient was treated with three monthly intravitreal injections of aflibercept. The VA improved to 20/160 a month after the treatment. Conclusion:The treatment with aflibercept in this rare case of MNV secondary to APMPPE effectively controlled membrane activity. However, the fibrosis and atrophy resulting from the MNV contributed to only a partial recovery of VA. Long-term follow-up of patients with APMPPE is recommended for early detection and treatment of possible MNV development to improve functional outcomes.
Purpose The aim of this study is to highlight findings of retrograde maculopathy (RM) on optical coherence tomography (OCT) as a sequela of neuromyelitis optica associated optic neuropathy. Observations We report two patients with demyelinating lesions involving the visual pathways due to neuromyelitis optica in whom RM was seen, and in whom the location of the RM corresponded to their visual deficits. In one case, we describe a patient who had a demyelinating chiasmal lesion with bitemporal hemianopia and who had corresponding binasal RM. In another case, we describe a patient who had generalized vision loss in the right eye and who had corresponding diffuse RM in the right macula. Conclusions and Importance RM is a potential sequela of severe optic neuropathy in neuromyelitis optica and topographically corresponds to severe visual field defects, as well as severe ganglion cell complex loss. Providers should recognize this finding and be aware that they do not need to pursue diagnostic evaluation due to concern for primary macular disease.
IntroductionBardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy with at least 26 identified causative genes. BBS7 accounts for approximately 1.5% of cases. The syndrome is characterized by retinal degeneration, obesity, polydactyly, intellectual disability, and renal anomalies. BBS7 encodes a core subunit of the BBSome complex, which is essential for ciliary function and intracellular signaling.Case PresentationWe report a 9-year-old Palestinian boy with BBS7, confirmed by whole exome sequencing identifying a homozygous pathogenic variant in the BBS7 gene [c.712_715del]; both parents were heterozygous carriers. To our knowledge, this is the first genetically confirmed case of BBS7 in Palestine. Written informed consent was obtained from the father, the legal guardian. The patient exhibited postaxial polydactyly, generalized obesity (BMI 32.8), developmental delay, learning difficulties, hypothyroidism, and mild craniofacial dysmorphism. Ocular findings included a best-corrected visual acuity of 20/33 bilaterally, compound myopic astigmatism (spherical equivalents: -7.12 D OD and -7.25 D OS), and 15 prism diopters of constant left exotropia. Optical coherence tomography revealed marked thinning of the retinal nerve fiber layer and ganglion cell complex consistent with progressive retinal degeneration. Fundus imaging demonstrated tilted optic discs, bone spicule pigmentation, and peripapillary atrophy. Full-field electroretinography confirmed rod-cone dystrophy with significantly reduced amplitudes and prolonged implicit times. Corneal topography showed no evidence of keratoconus.DiscussionThis case contributes novel region-specific clinical and genetic data on BBS7, with comprehensive ophthalmic phenotyping including OCT, full-field ERG, and corneal topography. It underscores the value of early multidisciplinary evaluation and genetic testing, particularly in consanguineous populations. Continued reporting of genetically confirmed BBS7 cases will strengthen understanding of genotype-phenotype correlations and support improved clinical management.
Introduction:Granulomatosis with polyangiitis (GPA) is a granulomatous disease with multisystem involvement, frequently with ocular manifestations. It can lead to ocular morbidity due to tissue melting and necrosis. Case Description:A 35-year-old male presented with a painless nodular lesion in the left eye, along with gradual diminution of vision and redness for 2 months. Eight months ago, he was diagnosed with GPA and left eye anterior uveitis. He was treated with topical steroids, topical cycloplegic, pulse cyclophosphamide, oral prednisolone, and azathioprine. At presentation, best corrected visual acuity in the right eye was 6/6 and 1/60 in the left. Left eye showed scleral thinning and necrosis in the superonasal quadrant with +1 cells in the anterior chamber. Intraocular pressure was 10 mmHg. Funduscopy examination showed exudative retinal detachment with hyperemic disc. Since refractory to topical and systemic immunomodulators, he underwent corneoscleral patch graft in the left eye for the progressive scleral thinning along with injection rituximab. Significant improvement was seen at 1 month with corneoscleral patch graft in situ, decreased inflammation with formed anterior chamber depth. However, at 2 months follow-up, the left eye showed worsening of ocular symptoms with progressive scleral thinning, necrosis, and graft lysis with total retinal detachment. Conclusion:GPA-associated necrotizing scleritis is challenging. A collaborative timely management with aggressive compliant immunosuppressive therapy is a necessity to avoid ocular morbidity.
Introduction:This study is aimed at reporting detailed longitudinal changes in best-corrected visual acuity (BCVA) and retinal structure in a patient with central serous chorioretinopathy (CSC) and persistent serous retinal detachment over one and a half years. Case Report:A man in his 40s presented with unilateral mild vision loss. On the initial examination, the BCVA was 20/25 OS. Optical coherence tomography (OCT) revealed macular serous retinal detachment, and fluorescein angiography identified two focal leakage spots within this area, leading to the diagnosis of CSC. Despite the persistence of serous retinal detachment after several focal photocoagulations, the patient refused photodynamic therapy, which resulted in the serous retinal detachment remaining for 18 months. In the affected eye, the BCVA and outer nuclear layer (ONL) thickness were initially 20/25 and 86 μm, respectively. These values subsequently deteriorated to 20/67 and 73 μm at 6 months and further decreased to 20/200 and 46 μm at 18 months. The reflectivity of the photoreceptor layer progressively increased, leading to the formation of intraretinal hyperreflective foci 18 months from baseline. Conclusions:A patient with CSC and persistent serous retinal detachment may present a relatively rapid decline in BCVA and progressive retinal damage. The chronicity of CSC is associated with specific structural findings, such as thinning of the ONL and photoreceptor layer and increased photoreceptor reflectivity leading to intraretinal hyperreflective foci.
Purpose:This study is aimed at describing the use of suprachoroidal triamcinolone injection for the treatment of refractory uveitis-associated ocular hypotony presumed secondary to ciliary body shutdown. Methods:We report a case of a 58-year-old woman with a 26-year history of idiopathic, noninfectious bilateral panuveitis complicated by recurrent cystoid macular edema and a steroid-induced ocular hypertension. After treatment with an intravitreal dexamethasone implant and an Ahmed glaucoma valve, she developed persistent hypotony in the right eye with intraocular pressure (IOP) of 2-4 mmHg despite controlled inflammation. Evaluation with gonioscopy and ultrasound biomicroscopy revealed no cyclodialysis cleft or cyclitic membranes. Prior treatments, including topical steroids, repeat dexamethasone implant, Ahmed valve revision, and serial anterior chamber viscoelastic injections, produced only transient improvement. Suprachoroidal triamcinolone (40 mg) was administered. Results:Before injection, IOP ranged from 2 to 6 mmHg. Following treatment, IOP remained ≥ 6 mmHg for approximately 2 months. Best corrected visual acuity improved from 20/80 to 20/50, and additional viscoelastic injections were not required during this period. Numerical hypotony recurred 8 months later. Conclusion:Suprachoroidal triamcinolone may represent a targeted treatment for refractory uveitis-associated hypotony when ciliary body dysfunction is suspected and other steroid delivery routes are limited. Further study is needed to evaluate durability and broader applicability.
A 20-year-old male presented with three large retinal hemangioblastomas in the left eye. At the 5-week follow-up, automated montage ultra-widefield imaging appeared to demonstrate a fourth lesion, suggesting possible disease progression. Clinical examination, however, confirmed the presence of only three tumors. Re-evaluation of the automated image stitching revealed misidentification of the optic nerve head in one of the source images, resulting in image misalignment and the false appearance of an additional lesion. Systemic evaluation demonstrated central nervous system hemangioblastomas and a renal cyst, and genetic testing confirmed von Hippel-Lindau disease. This case illustrates both the diagnostic utility and limitations of ultra-widefield montage imaging and highlights the importance of clinical verification of apparent lesion increase before concluding true progression.
PurposeWe report a diabetic patient with rhino-orbital-cerebral mucormycosis (ROCM) and bilateral endogenous Aspergillus endophthalmitis post-coronavirus disease 2019 (COVID-19) infection.Case ReportA 45-year-old man who had diabetes experienced vision loss and sought medical assistance. Prior to developing orbital symptoms, he had undergone intensive corticosteroid therapy for COVID-19. His uncorrected visual acuity was 20/20 in the right eye, but he had no light perception in his left eye. While hospitalized for ROCM, he developed endogenous endophthalmitis in his left eye, which was caused by Aspergillus fumigatus. Additionally, Aspergillus retinitis was diagnosed in his right eye due to the development of white retinal lesions and preretinal hemorrhage. To treat ROCM, he received systemic and retrobulbar injections of amphotericin B, which led to regression. Posaconazole was prescribed for the treatment of Aspergillus endophthalmitis. The retinitis lesions in his right eye responded well to oral posaconazole without any long-term complications.ConclusionPatients with COVID-19-associated immunodeficiency may be more vulnerable to opportunistic pathogens, such as mucormycosis and Aspergillus, particularly if they have comorbidities like diabetes mellitus. It is also possible for one person to be coinfected with multiple opportunistic pathogens.
BackgroundCHARGE syndrome is a rare genetic disorder caused primarily by CHD7 mutations, affecting multiple organs, including the eyes, heart, and ears. Ocular abnormalities are common, but bilateral persistent fetal vasculature (PFV) has not been previously reported in CHARGE syndrome. PFV results from the failure of the fetal hyaloid vasculature to regress, typically affecting one eye.Case PresentationWe report a 10-month-old female with bilateral PFV associated with CHARGE syndrome, confirmed by a de novo CHD7 mutation. Systemic evaluation revealed sensorineural hearing loss and congenital cardiac defects. The patient subsequently underwent cataract extraction and intraocular lens implantation in the left eye. Postoperatively, a partial improvement in esotropia was observed.ConclusionsThis case represents the first documented instance of bilateral PFV in CHARGE syndrome. It expands the known ocular manifestations of the syndrome and underscores the importance of early genetic diagnosis and multidisciplinary care to optimize patient outcomes.
