Publications by authors named "Virginia Utz"

Background: Uveitis is an inflammatory ocular disease secondary to disruption of the retinal pigmented epithelium (RPE) and blood retinal barrier (BRB). Known clinical factors do not accurately predict uveitis risk in Juvenile Idiopathic Arthritis (JIA). Tear fluid is easily obtained for biomarker study.

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Article Synopsis
  • The study aimed to analyze the clinical features, progression, and outcomes of uveitis in children diagnosed with tubulointerstitial nephritis and uveitis syndrome (TINU) through a multicentric retrospective cohort involving 110 patients.
  • Findings showed that a significant majority (84%) of patients needed immunomodulatory treatment, with common initial therapies being methotrexate and mycophenolate mofetil, while about 45% required biologic agents for better control of uveitis.
  • The results indicated that younger age, male sex, and higher severity of uveitis at diagnosis were linked to increased treatment needs, and by the end of the study, nephritis was managed in 90% of cases,
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Article Synopsis
  • Biallelic pathogenic variants in the NTE gene are linked to various disorders that cause issues like gait disturbance, visual impairment, and hormonal problems such as anterior hypopituitarism.
  • A clinical meta-analysis of new and previously reported patients identifies specific missense variants as significant contributors to disease pathogenesis, with a developed functional assay helping to classify variants of unknown significance.
  • Findings show a clear connection between reduced NTE activity and the occurrence of certain conditions (retinopathy and endocrinopathy), suggesting a continuous spectrum of disorders based on NTE functionality, which may guide future therapeutic strategies.
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Purpose: To examine the incidence of uveitis in children prescribed prostaglandin analogs (PGAs) for glaucoma.

Methods: In this dual-center cohort study, the medical records of consecutive patients <18 years old treated with a PGA between January 1, 2012, and December 31, 2018, were reviewed retrospectively. Patients with all forms of glaucoma, including those with a prior history of uveitis, were included.

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Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinopathy resulting from mutations in the signaling pathway leading to abnormalities in fetal retinal vasculogenesis, angiogenesis, and retinal vascular maintenance. Severe FEVR may result in congenital retinal detachment resembling Norrie disease. The authors report the first case of planned preterm delivery and treatment of a patient with severe FEVR from biallelic mutations whose siblings had congenital tractional retinal detachments with light perception vision outcomes after conventional care.

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Purpose: Biomarkers for juvenile idiopathic arthritis-associated uveitis (JIA-U) are needed. We aimed to measure inflammatory biomarkers in tears as a non-invasive method to identify biomarkers of uveitis activity.

Methods: Tears were collected from children with JIA-U (n=20) and pediatric controls (n=20) using Schirmer strips.

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Objective: Pediatric uveitis can lead to sight-threatening complications and can impact quality of life (QoL) and functioning. We aimed to examine health-related QoL, mental health, physical disability, vision-related functioning (VRF), and vision-related QoL in children with juvenile idiopathic arthritis (JIA), JIA-associated uveitis (JIA-U), and other noninfectious uveitis. We hypothesized that there will be differences based on the presence of eye disease.

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Objective: The Effects of Youngsters' Eyesight on Quality of Life (EYE-Q) questionnaire measures vision-related functioning (VRF) and vision-related quality of life (VRQoL) in children with uveitis. Our aim was to revise the alpha version of the EYE-Q to refine VRF and VRQoL subscales and to assess the validity of the EYE-Q.

Methods: Children with juvenile idiopathic arthritis (JIA), JIA-associated uveitis, and other noninfectious uveitis were enrolled.

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Purpose: To present a rare presentation of abusive head trauma (AHT) in an infant with a hereditary vitreoretinopathy.

Observations: A two-month-old infant female victim of AHT presented with bilateral rhegmatogenous retinal detachments from giant retinal tears. She had rib fractures, a subdural hematoma, and hyphemas bilaterally.

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Purpose: To compare success rates of strabismus surgery that involves trainees versus those performed solely by staff surgeons.

Design: Retrospective, comparative case series.

Subjects: Patients undergoing eye muscle surgery for primarily horizontal deviations.

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Purpose: To describe the clinical and molecular findings in ten unrelated African American patients with Stargardt disease.

Design: Retrospective, observational case series.

Methods: We reviewed the clinical histories, examinations, and genotypes of 85 patients with molecular diagnoses of Stargardt disease.

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Several forms of autosomal dominant retinitis pigmentosa (adRP) are caused by mutations in genes encoding proteins that are ubiquitously expressed and involved in the pre-mRNA spliceosome such as PRPF31. This paper provides an overview of the molecular genetics, pathophysiology, and mechanism for incomplete penetrance and retina-specific disease in pedigrees of families who harbor mutations in PRPF31 (RP11). The molecular and clinical features of a family with a novel 3-base insertion, c.

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Antiphospholipid syndrome (APS) is an autoimmune disease characterised by a heterogenous group of antibodies directed against negatively charged phospholipids including antiphospholipid antibodies (aPL), anticardiolipin antibodies (aCL) and β-2 glycoprotein I (aβ-2-GP1). The major features of this disorder include arterial and venous thrombosis and recurrent fetal loss. The vasculature of the eye is frequently involved and may be the presenting manifestation.

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Antiphospholipid syndrome (APS) is an autoimmune disease characterised by a heterogenous group of antibodies directed against negatively charged phospholipids including antiphospholipid antibodies (aPL), anticardiolipin antibodies (aCL) and β-2 glycoprotein I (aβ-2-GP1). The major features of this disorder include arterial and venous thrombosis and recurrent fetal loss. The vasculature of the eye is frequently involved and may be the presenting manifestation.

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Objective: To evaluate the recurrence rates of herpes simplex virus (HSV) keratitis in contact lens wearers compared with non-contact lens wearers.

Methods: Retrospective cohort study. Charts of patients diagnosed with HSV keratitis seen at the Cleveland Clinic between January 2001 and December 2004 were reviewed.

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Purpose: To illustrate the challenges associated with a misaligned free flap (cap) and to report the outcome of applying wavefront-guided customized photorefractive keratectomy (PRK) followed by conventional PRK ablation to correct residual refractive error and aberrations after LASIK free cap complications.

Methods: The clinical course and surgical interventions of two patients with free cap complications from LASIK surgery were reviewed. The first patient underwent a total of six interventions after the initial LASIK procedure, and the second patient underwent a total of five interventions.

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