Publications by authors named "V E Mendez 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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  • 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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