Publications by authors named "Ymkje M Hettinga"
Infectious pediatric uveitis is a rare disease that can cause severe ocular damage if not detected rapidly and treated properly. Additionally, early identification of an infection can protect the child from life-threatening systemic infection. Infectious uveitis can be congenital or acquired and may manifest as a primary ocular infection or as a reactivation.
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- The study addresses the challenge of missing heritability in ABCA4-associated Stargardt disease (STGD1) by analyzing genomic variations in 1054 probands.
- Using a cost-effective sequencing method, researchers identified known and novel intronic variants and structural variants, leading to insights about potential causes of the disease.
- The findings revealed that 25% of biallelic STGD1 cases had identifiable genetic causes, demonstrating a model that could aid future research on other inherited diseases.
Importance: Tubulointerstitial nephritis and uveitis (TINU) syndrome is characterized by tubulointerstitial and ocular inflammation. Thus far, the value of noninvasive diagnostic tests is not known.
Objective: To determine whether urinary β2-microglobulin (β2M), urinary protein, and serum creatinine have predictive value for detecting TINU syndrome in young patients with uveitis.
Background/aims: Studies of uveitis in children have focused primarily on non-infectious causes. To date, no systematic study of infectious uveitis in children has been conducted. We investigate the prevalence of infectious causes of uveitis in children and explore the diagnostic value of analysing aqueous humour.
View Article and Find Full Text PDFPurpose: To investigate the clinical characteristics of childhood uveitis leading to visual impairment or blindness.
Methods: In this descriptive study, we reviewed data from the medical records of 58 children with visual impairment or blindness due to childhood uveitis, which were seen at an institute for visually impaired patients (Bartiméus) between January 1981 and December 2012, in a retrospective, cross-sectional manner.
Results: Thirty-two of the 58 children (55%) were visually impaired and 26 (45%) were legally blind.
Purpose: To describe the occurrence of anterior uveitis along with systemic manifestations of chronic graft-versus-host disease (GVHD) after nonmyeloablative allogeneic hematopoietic stem cell transplantation (HSCT) in 3 patients with hematologic malignancies.
Design: Retrospective small case series.
Participants: Three patients who underwent HSCT and 4 age- and gender-matched controls for cytokine analysis in ocular fluid.