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Deze abstract is toegekend aan sessie SBO-BOG Free papers: Genetica/Génétique
TitelOcular Findings of Primary Oxalosis in Three Children
DoelTo report on the ophthalmological examination of three children with primary oxalosis type 1. Primary oxalosis is a rare autosomal recessive condition due to a defect in the glyoxalate metabolism.
MethodesThree children in whom a diagnosis of primary oxalosis type 1 was made (one 7-year old boy, and two brothers aged 9 and 14), underwent an extensive ophthalmological evaluation including visual acuity, ophthalmoscopy, OCT, infrared and red-free imaging with HRA2, and pattern-ERG. In addition, in the 7-year old boy a pattern-VEP and a full-field flash ERG were also performed. This patient underwent combined liver-kidney transplantation and started haemodialysis at age 3 months, the two brothers are treated with medication.
ResultatenBCVA was normal in all patients. Ophthalmoscopy showed multiple yellowish-white flecks at the posterior pole, with retinal pigment epithelium hyperplasia in the center of some in the 7-year old boy. The two other patients only had a very limited amount of small, white intraretinal crystals near retinal vessels.
In the single case, OCT confirmed the crystals in the retinal pigment epithelium. These were further highlighted on HRA2 imaging.
Pattern-ERG was normal in all patients. In the single case, generalised retinal and optic nerve function was normal as evidenced by full-field flash ERG and pattern-VEP.
ConclusieRetinal calcium oxalate deposition in children can be easily detected on funduscopy, HRA2 and OCT. However, in the early stage of the disease, both macular and generalised retinal function can be normal. The phenotype varies widely between patients.
Auteur 1
NaamDELBEKE
InitialenP
InstituutDept of Ophthalmology, University Hospital
StadGhent
Auteur 2
NaamRaes
InitialenA
InstituutDept of Paediatric Nephrology, University Hospital
StadGhent
Auteur 3
NaamLeroy
InitialenBP
InstituutDept of Ophthalmology, Ctr for Medical Genetics, University Hospital
StadGhent
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