Uveal Effusion Research Articles

Uveal Effusion Syndrome Due to WNT10A Mutation.

Uveal effusion syndrome (UES) is an exudative detachment of ciliary body, retina and choroid. Various underlying causes leads to UES-like drugs (topiramate), inflammation and hypotony. Wnt gene involvement has never been associated with UES. We report a case of bilateral UES being misdiagnosed as Vogt-Koyanagi-Harada syndrome (VKH), with Wnt gene dysfunction as the underlying trigger. A 32-year-old male presented with diminution of vision in his left eye. He was found to have choroidal detachment with retinal detachment in his left eye. Choroidal detachment was noted in the right eye. Various ocular imaging including fundus fluorescein angiography and ocular coherence tomography was done. He was misdiagnosed as a case of VKH syndrome, for which he was treated with systemic immunomodulatory therapy. However, a subclinical response was made to revisit the diagnosis. Ultrasound biomicroscopy showed supraciliary effusion. Systemic and genetic evaluation led to the detection of Wnt10A pathway mutation. UES is an entity of diagnostic challenge. Careful and thorough systemic evaluation is required to clinch the diagnosis. We reported the first case of bilateral UES recalcitrant to corticosteroids, with Wnt10A gene mutation.

Topiramate-induced uveal effusion with myopia without angle closure: A case report

Topiramate-induced acute angle closure is a well-known entity with onset of symptoms at 2 weeks following treatment initiation. We report a 24-year-old female with blurring of vision 2 days after increasing the topiramate dose for migraine prophylaxis. Examination showed increase in manifest myopia with normal intraocular pressure and absence of angle closure. Provisional diagnosis of topiramate-induced myopia (TIM) was made, confirmed by presence of uveal effusion on B-scan and ultrasound biomicroscopy. Early presentation during the course could be the reason for isolated myopia. She was advised to stop topiramate and was started on cycloplegics. This case highlights that awareness about TIM among patients helps in prompt management, thus preventing the site-threatening acute angle closure.

Uveal Effusion Syndrome Temporally Associated with Primary COVID-19 Infection

ABSTRACT Purpose To report a case of uveal effusion syndrome in association with primary COVID-19 infection to share our experience and insight in diagnosing and managing this unique case. Case presentation A 56-year-old woman presented with angle closure glaucoma of both eyes. Further examination and imaging revealed the etiology to be related to bilateral uveal effusions and choroidal thickening in the setting of recent COVID-19 infection. The patient’s glaucoma was managed with bilateral iridotomies and medical therapy, while the precipitating uveal effusions resolved with treatment on oral steroids. Conclusion While uveal effusion syndrome has been associated with COVID-19 vaccination, it has not yet been reported after primary infection. Recognition of this rare phenomenon will allow for better diagnosis and treatment in future cases.

Uveal effusion syndrome following hormonal therapy for prostate cancer: a rare ophthalmic manifestation

Uveal effusion syndrome following hormonal therapy for prostate cancer: a rare ophthalmic manifestation

Uveal effusion in Waldenstrom's macroglobulinemia.

To reastport a case of Waldenstrom macroglobulinemia-related choroidal detachments. Case report. A 80-year-old woman was referred for bilateral visual loss for few months. She was hospitalized for a Waldenstrom's disease. Both anterior chambers were deep and quiet. Fundus revealed bilateral choroidal detachment without serous retinal detachments. No vitritis, retinal tear or pigmented lesion were observed. After eliminating all other causes of uveal effusion, the patient was treated for her hemopathy with chemotherapy associated with corticosteroids and plasmapheresis. One month later, fundus showed a complete disappearance of choroidal detachments and vision improved. Uveal effusion is an extremely rare ocular damage of Waldenström disease. As choroidal vessels are porous, they may allow immunoglobulins, over produced, to leak toward supra-choroidal space triggering choroidal detachments.

MFRP variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity.

Nanophthalmos is a congenital ocular structural anomaly that can cause significant visual loss in children. The early diagnosis and then taking appropriate clinical and surgical treatment remains a challenge for many ophthalmologists because of genetic and phenotypic heterogeneity. The objective of this study is to identify the genetic cause of nanophthalmos in the affected families and analyze the clinical phenotype of nanophthalmos with MFRP gene variation (Microphthalmia, isolated; OMIM#611040 and Nanophthalmos 2; OMIM#609549, respectively). Comprehensive ophthalmic examinations were performed on participants to confirm the phenotype. The genotype was identified using whole exome sequencing, and further verified the results among other family members by Sanger sequencing. The normal protein structure was constructed using Alphafold. Mutant proteins were visualized using pymol software. Pathogenicity of identified variant was determined by in silico analysis and the guidelines of American College of Medical Genetics and Genomics (ACMG). The relationship between genetic variants and clinical features was analyzed. Five nanophthalmos families were autosomal recessive, of which four families carried homozygous variants and one family had compound heterozygous variants in the MFRP gene. Both family one and family three carried the homozygous missense variant c.1486G>A (p.Glu496Lys) in the MFRP gene (Clinvar:SCV005060845), which is a novel variant and evaluated as likely pathogenic according to the ACMG guidelines and in silico analysis. The proband of family one presented papilloedema in both eyes, irregular borders, thickened retinas at the posterior pole, tortuous and dilated retinal vessels, and indistinguishable arteries and veins, while the proband of family three presented uveal effusion syndrome-like changes in the right eye. In families one and 3, despite carrying the same gene variant, the probands had completely different clinical phenotypes. The homozygous nonsense variant c.271C>T (p.Gln91Ter) (Clinvar:SCV005060846) of the MFRP gene was detected in family 2, presenting shallow anterior chamber in both eyes, pigmentation of peripheral retina 360° from the equator to the serrated rim showing a clear demarcation from the normal retina in the form of strips. Family four proband carried the homozygous missense variant c.1411G>A (p.Val471Met) in the MFRP gene (Clinvar:SCV005060847), family five proband carried compound heterozygous missense variants c.1486G>A (p.Glu496Lys) and c.602G>T (p.Arg201Leu) in the MFRP gene (Clinvar:SCV005060848), which is a novel variant and evaluated as likely pathogenic according to the ACMG guidelines and in silico analysis, and they all presented clinically with binocular angle-closure glaucoma, family four also had retinal vein occlusion in the right eye during the follow-up. In this study, pathogenic variants of the MFRP gene were detected in five nanophthalmos families, including two novel variants. It also revealed a distinct phenotypic diversity among five probands harboring variants in the MFRP gene. Our findings extend the phenotype associated with MFRP variants and is helpful for ophthalmologists in early diagnosis and making effective treatment and rehabilitation strategies.

Clinical features of patients with mutations in genes for nanophthalmos

Background/AimsTo distinguish the clinical feature of nanophthalmos (NNO) caused by mutations in protease serine 56 (PRSS56), membrane-type frizzled-related protein (MFRP), myelin regulatory factor (MYRF) and transmembrane protein 98 (TMEM98) and...

Vogt-Koyanagi-Harada Disease: A Narrative Review.

Vogt-Koyanagi-Harada (VKH) disease is an idiopathic immune-related sickness that affects multiple systems and melanocytes in organs such as the uvea, ear, and meninges. The primary cause of activity is cellular immunological responses. Vogt-Koyanagi disease is identified primarily by skin abnormalities and anterior uveitis. Harada's illness is distinguished by neurological symptoms and exudative retinal detachments, which are associated with the HLA-DR4 and HLA-DRw53 genes.Pigmented races, such as Hispanics and Native Americans, are more likely to have VKH disease. Clinical features are blurred vision, floaters, alopecia, vitiligo, diffuse choroidal inflammation with disc edema, and exudative retinal detachment. Differential diagnoses include posterior scleritis, uveal effusion syndrome, central serous chorioretinopathy, and sympathetic ophthalmitis. The investigations used are optical coherence tomography (OCT), fundus fluorescein angiography (FA), and B-scan ultrasonography (USG). Treatment is done by using systemic steroids, cycloplegics, and immunosuppressants.

Ultrahigh and High-frequency Ultrasound Imaging in Uveal Effusion

Ultrahigh and High-frequency Ultrasound Imaging in Uveal Effusion

CLINICAL CHARACTERISTICS, TREATMENT MODALITIES, AND THEIR ASSOCIATION WITH LONG-TERM VISUAL OUTCOMES IN UVEAL EFFUSION SYNDROME.

Uveal effusion syndrome (UES) is a rare eye condition characterized by fluid accumulation in the uveal layer. We investigated its clinical characteristics and treatment modalities and their association with long-term visual outcomes. This retrospective cohort study included patients with UES treated at two tertiary hospitals between November 2005 and June 2023. Clinical characteristics and treatment outcomes by modality were compared between nanophthalmic Type 1 UES (UES-1) and non-nanophthalmic Type 2 UES (UES-2), and between initial and final visits. Logistic regression analysis was used to identify factors associated with vision loss. Twenty-three eyes were included (UES-1, n = 10; UES-2, n = 13). Retinal pigment epithelium mottling was significantly more common in UES-1 than in UES-2 ( P = 0.043); no other between-group differences were observed. Post-treatment, in UES-1, best-corrected visual acuity ( P = 0.028) and central macular thickness ( P = 0.046) significantly decreased; in UES-2, best-corrected visual acuity significantly improved ( P = 0.021), and subfoveal choroidal thickness ( P = 0.048), central subretinal fluid height ( P = 0.011), and central macular thickness ( P = 0.010) significantly decreased. UES-2 was associated with a lower risk of vision loss (odds ratio, 0.024; P = 0.044). No other associated factors were identified. The UES type was the sole independent prognostic factor for vision loss, whereas treatment modalities had no significant impact on visual outcomes.

Acute Myopic Shift after a Single Dose of Acetazolamide: A Case Report and Review of the Literature.

We report the case of a 32-year-old male who presented with an acute myopic shift as a result of uveal effusion following a single administration of 250 mg acetazolamide. The drug was discontinued and following cycloplegia and topical steroid therapy, we observed progressive deepening of the anterior chamber, reopening of the iridocorneal angle, and complete resolution of the myopic shift after 5 days. A literature review since 1956 identified 23 cases, including ours, which developed a myopic shift after a median time of 24 h (3 - 24) following a median dose of 500 mg (125 - 1000) acetazolamide, with about a third complicated by angle closure ocular hypertension. This presumed idiosyncratic reaction can occur without prior drug exposure and independent of the phakic status. Treatment options include systematic drug withdrawal associated with cycloplegia, anti-glaucomatous agents, and/or corticosteroids. Full recovery is achieved within about 5 days (2 - 14). Given the widespread use of acetazolamide, awareness of this idiosyncratic reaction is crucial to avoid complications of acute angle-closure glaucoma.

Uveal effusion syndrome: a case report

BackgroundThis case report is applicable to the field of ophthalmology because there is a paucity of medical literature related to the clinical presentation, diagnosis, and management of uveal effusion syndrome. This is an urgent concern because there are severe complications associated with this disease, including non-rhegmatogenous retinal detachment, angle closure glaucoma, and possible blindness. This report will fill clinical knowledge gaps using a patient example.Case presentationA 68-year-old white male with multiple cardiovascular risk factors initially presented to the Eye Institute Urgent Care Clinic with new onset visual symptoms, including eye pain, eye lid swelling, redness, and tearing of his left eye. He had experienced a foreign body sensation in the left eye and bilateral floaters weeks prior to his presentation. The patient was examined, and vision was 20/30 in both eyes, and intraocular pressure was 46 in the right eye and 36 in the left eye. After initial assessment, including compression gonioscopy, intermittent angle closure glaucoma was suspected. He received oral diamox 500 mg, one drop of alphagan in both eyes, one drop of latanoprost in both eyes, one drop of dorzolamide in both eyes, and one drop of 2% pilocarpine in both eyes. There was only slight response in intraocular pressure. Owing to the bilateral angle closure, he underwent laser peripheral iridotomy to decrease intraocular pressure and open the angle that was found closed on gonioscopy. The patient was discharged on oral and topical glaucoma drops and scheduled for the glaucoma clinic. When he presented for follow-up in the glaucoma clinic, he was evaluated and noted to have bilateral narrow angles and intraocular pressure in the mid-twenties. A brightness scan (B-scan) was performed and was noted to have bilateral choroidal effusions, confirmed by Optos fundus photos. He was started on prednisone at 60 mg once per day (QD) with taper, continuation of oral and topical glaucoma medications, and a retina evaluation. Evaluation with a retina specialist showed resolving choroidal effusion in the left eye. He continued the prednisone taper as well as glaucoma drops as prescribed. Follow-up in the glaucoma clinic revealed a grade 3 open angle. He continued the prednisone taper, cosopt twice per day in both eyes, and discontinued brimonidine. The magnetic resonance imaging (MRI) that was performed showed results that were remarkable. No hemorrhage or mass was present. Follow-up with the retina specialist found that the choroidal effusions had resolved completely.ConclusionThis case report emphasizes the value in early detection, keen diagnostic evaluation, and cross-collaboration between multiple ophthalmology specialists to optimize healthcare outcomes for patients with uveal effusion syndrome.

Acetazolamide –friend to foe

Bilateral acute angle closure attacks are rare and usually secondary to drugs or concurrent microspherophakia. Acetazolamide, a sulphonamide medication used in controlling intraocular pressure, is known to cause uveal effusion precipitating secondary acute angle closure attack. Here we report a well-documented case of concurrent bilateral angle closure with shallowing of the anterior chamber, supra-ciliary effusion, and serous and hemorrhagic choroidal detachment after administration of oral acetazolamide that resolved on withdrawing the insulting agent.

Acétazolamide et effusion uvéale : à propos de deux cas

We report two cases of uveal effusion following oral acetazolamide administration: one case after a standard cataract surgery and a second following a preventive treatment for altitude sickness. The outcome in both cases was favorable. This rare complication requires appropriate management, including ruling out other pathologies. The pathophysiological mechanism is not fully understood.

Topical brimonidine induced acute uveal effusion in a patient with nanophthalmos: a case report

BackgroundWe report a case of uveal effusion in a nanophthalmic eye after topical use of brimonidine.Case presentationA 42-year-old male patient with nanophthalmos experienced sudden blurred vision in the right eye after using topical brimonidine when picking up tennis balls repeatedly 6 weeks after bilateral YAG peripheral iridotomy. Ocular examination showed wide choroidal and exudative retinal detachment in the temporal and inferior region, involving the macula. Acute uveal effusion in the right, bilateral nanophthalmos was diagnosed. Oral and topical corticosteroids, combined with topical nonsteroids and atropine led to a complete resolution of the uveal effusion after one month.ConclusionThis case suggested a possible causal relationship between the topical use of brimonidine and acute uveal effusion in patients with nanophthalmos. Topical brimonidine should be used with caution in nanophthalmic eyes.

Management and follow-up of uveal effusion syndrome: a case report

BackgroundWe present the management and follow-up of a case of uveal effusion syndrome (UES).Case presentationWe study the relevant recent literature reports and review the aetiology, clinical classification, pathogenesis, diagnostic characteristics, treatment methods, and prognosis of this disease. When we encounter UES patients clinically, we can classify them according to their clinical characteristics and adopt different treatment plans for different types. The retina of this patient reattached 5 months after receiving eight periocular injections of triamcinolone acetonide (TA).ConclusionsFor type III UES patients, local hormone therapy can be applied, and follow-up should be done to optimize the clinical outcome.

Central Serous Chorioretinopathy mimicking Idiopathic Uveal Effusion Syndrome.

To describe central serous chorioretinopathy (CSCR) cases presenting as uveal effusion syndrome, providing new insights into "pachychoroid spectrum" diseases. Clinical charts, color fundus photographs, fluorescein angiography, indocyanine green angiography, optical coherence tomography, ultrasound imaging, cerebral magnetic resonance imaging and biometry of four eyes of three patients were assessed. A literature review was conducted. The three patients had peripheral choroidal detachment and inferior bullous retinal detachment associated with CSCR features detected using multimodal imaging, including fluorescein and indocyanine green angiography. The choroid was thick in the three patients, and uveal effusion occurred after steroid treatment in all cases. Subretinal fluid drainage and deep sclerectomy with flaps of 4x4 mm in both inferior quadrants were performed in 3 eyes of 2 patients with good outcomes. One patient was treated with photodynamic therapy. All three patients developed a typical leopard-spot pigmentary pattern in the fundus. A severe presentation of highly exudative CSCR may occur in rare cases with a peripheral choroidal detachment mimicking uveal effusion syndrome. These severe cases highlighted the role of choroidal thickening and hyperpermeability, choroidal vein dilation and possible scleral thickening in both entities.

Combined aqueous misdirection and persistent choroidal effusions following implantation of a Preserflo MicroShunt.

To describe a case of aqueous misdirection complicated by subsequent persistent choroidal effusions following implantation of a Preserflo MicroShunt (PMS) device to treat advanced closed angle glaucoma. A 67-year-old caucasian female with advanced primary angle-closure glaucoma on four medications with an intraocular pressure (IOP) of 26 mm Hg was listed for a PMS insertion with mitomycin C (MMC). Past ocular history was significant for pseudophakia and previous yttrium aluminum garnet (YAG) peripheral iridotomy. Surgery was uneventful but on the first postoperative day, she developed aqueous misdirection complicated by subsequent development of persistent uveal effusions. Conventional treatment strategies including atropine drops, YAG hyaloidotomy and choroidal effusion drainage proved ineffective. A combination of oral steroids and pars plana vitrectomy (PPV) along with an irido-zonulo-hyloidectomy (IZH) proved efficacious. To the best of the author's knowledge, this is the first published case of aqueous misdirection complicated with the presence of significant, unresolving choroidal effusions, highlighting the possibility and sequelae of comorbid pathology in nanophthalmic eyes.

Acetazolamide-induced bilateral uveal effusion after cataract surgery

Acetazolamide-induced bilateral uveal effusion after cataract surgery

Acute bilateral glaucoma related to uveal effusion syndrome associated with topiramate

AbstractPurpose: Drugs mostly sulfa‐related compounds, have produced uveal effusions, forward rotation of the iris‐lens diaphragm, transient myopia, and secondary angle closure. It has been recently encountered one case in which uveal effusions have occurred after administration of topiramate, a new anticonvulsant medication.Methods: A 54‐year‐old woman was seen in our emergency department with severe headaches, progressively blurry vision and photophobia in both eyes starting that morning. On examination, her visual acuity was hand movement in both eyes. Central corneal edema was observed, narrow chamber and anterior lens‐iris complex displacement with an unreactive middle pupil in both eyes. The funduscopic examination was difficult to assess due to the media opacity. Intraocular pressure measured with an applanation tonometer was 45 mm of mercury (mmHg) in the right eye and 50 mmHg in the left eye. Her medications included topiramate which she had started 2 weeks prior to initial examination due to headaches followed by neurology.Results: Topiramate‐induced angle closure has even been described as an idiosyncratic reaction in patients with normal depth of anterior chamber. The drug causes a prostaglandins increasement that trigger ciliary body edema at the local level but without acting at the systemic level. Ultrasound biomicroscopy shows the presence of a ciliochoroidal effusion syndrome, edema and the ciliary body anterolateral rotation, with zonular relaxation, changes that lead to iris‐lens diaphragm anterior displacement and, as a consequence, narrowing of the responsible anterior chamber with an acute glaucoma crisis.Conclusions: Topiramate is a sulfamate monosaccharide and belongs to a new generation of antiepileptic drugs, widely prescribed throughout the world as treatment of generalized tonic–clonic seizures and partial seizures. Prophylaxis of migraine, bipolar disorder, depression and neuropathic pain are other recent indications of its use. Bilateral acute glaucoma due to uveal effusion syndrome should be considered as an infrequent complication of topiramate use.References.1. Prithvi S. Sankar, MD; Louis R. Pasquale et al. Uveal Effusion and Secondary Angle‐Closure Glaucoma Associated With Topiramate Use. Arch Ophthalmol. 2001;119(8):1210–1211.