Uveal Effusion Syndrome

Last update 08 May 2025

Basic Info

Synonyms

Uveal Effusion Syndrome, Uveal Effusion Syndromes, Uveal effusion syndrome

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Introduction

Rare disease characterized by suprachoroidal fluid accumulation between the CHOROID and the SCLERA, annular detachment of the CHOROID, often with secondary RETINAL DETACHMENT; OPTIC DISK EDEMA, and minimal signs of UVEITIS and INTRAOCULAR PRESSURE changes.

100 Clinical Results associated with Uveal Effusion Syndrome

100 Translational Medicine associated with Uveal Effusion Syndrome

0 Patents (Medical) associated with Uveal Effusion Syndrome

215

Literatures (Medical) associated with Uveal Effusion Syndrome

16 Mar 2025·Ocular Immunology and Inflammation

Uveal Effusion Syndrome Due to WNT10A Mutation

Article

Author: Biswas, Jyotirmay ; Bhende, Muna ; Jagadeesh, Sujatha ; Patnaik, Gazal

PURPOSEUveal 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.OBSERVATIONSA 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.CONCLUSIONSUES 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.

01 Mar 2025·Clinical & Experimental Ophthalmology

MFRP, PRSS56, and MYRF account for 60.5% of a Chinese cohort with nanophthalmos

Article

Author: Shen, Ren‐Juan ; Jin, Zi‐Bing ; Tao, Jing

AbstractBackgroundThis study aimed to present the genetic profile of a rare ocular disease nanophthalmos (NO) in a large Chinese cohort, to explore its genetic characteristics and genotype–phenotype correlations.MethodsA total of 43 unrelated pedigrees diagnosed with NO were recruited. Whole exome sequencing and copy number variation analysis were performed, followed by validation and pathogenicity classification of the detected variants.ResultsThe overall genetic diagnostic rate was 60.5%. Twenty‐eight unique genetic variants of MFRP, PRSS56, and MYRF have been identified, of which 19 were reported for the first time. The c.1486G>A variant in MFRP and the c.1066dupC variant in PRSS56 were the two most frequent variants. Patients with variants in MFRP or PRSS56 tended to possess shorter axial lengths than those with MYRF variants. Among patients with MFRP null variants, a higher proportion developed uveal effusion syndrome (UES) than did those without null variants, whereas among patients with PRSS56 null variants, a greater number of patients developed angle‐closure glaucoma (ACG). A higher proportion of MFRP‐related NO patients developed both UES and ACG.ConclusionsMFRP, PRSS56, and MYRF account for the majority of genetic causes of NO. MFRP‐related NO patients tend to exhibit a strong predisposition to complications. Null variants in MFRP and PRSS56 may increase susceptibility to clinical complications. This study provides insights into the genetic landscape and clinical characteristics of NO. These findings will lead to a better understanding of the mechanisms underlying nanophthalmos and other diseases associated with eye development.

18 Feb 2025·International Journal of Ophthalmology

Idiopathic uveal effusion syndrome with increased intraocular pressure

Article

Author: Wang, Xue ; Wang, Zhi-Bin ; Di, Yu

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Uveal Effusion Syndrome

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