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Diabetic Retinopathy01:27

Diabetic Retinopathy

DefinitionDiabetic retinopathy is a microvascular complication of diabetes affecting the retinal blood vessels.Risk FactorsDiabetic retinopathy is present in almost all individuals with type 1 diabetes and more than 60% of those with type 2 diabetes after two decades of disease.The risk increases with poor glycemic control, hypertension, dyslipidemia, smoking, pregnancy, and puberty.Although cataracts and glaucoma are also more frequent in people with diabetes, retinopathy remains the leading...

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Choroidal and Retinal Imaging Findings in Childhood-Onset Mevalonate Kinase Deficiency: An OCT-Based Case-Control

Puren Isik Eker1, Aybuke Alisan2, Panayiotis Maghsoudlou3,4

  • 1Department of Ophthalmology, Çukurova University, Adana, Turkey.

Ocular Immunology and Inflammation
|June 30, 2026
PubMed
Summary

Childhood-onset mevalonate kinase deficiency (MKD) patients exhibit altered choroidal vascularity but comparable macular microvasculature. These exploratory findings in MKD require further investigation in longitudinal studies.

Keywords:
Choroidal vascularity indexhyperimmunoglobulinaemia D syndromemevalonate kinase deficiencymonogenic autoinflammatory diseaseoptical coherence tomography angiography

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Area of Science:

  • Ophthalmology
  • Genetics
  • Immunology

Background:

  • Childhood-onset mevalonate kinase deficiency (MKD) is a rare autoinflammatory disease.
  • Ocular manifestations in MKD are not well-characterized.
  • Understanding microvascular and microstructural changes in MKD is crucial for comprehensive patient management.

Purpose of the Study:

  • To compare macular microvascular and microstructural imaging findings in patients with childhood-onset MKD and healthy controls.
  • To assess associations between ocular findings and systemic disease activity in MKD.
  • To investigate potential therapeutic targets for ocular complications in MKD.

Main Methods:

  • Cross-sectional case-control study comparing 17 childhood-onset MKD patients with 30 healthy controls.
  • Disease activity assessed via autoinflammatory disease activity index (AIDAI) and C-reactive protein (CRP).
  • Choroidal imaging (OCT, OCT-A) analyzed for subfoveal choroidal thickness (SFCT), total choroidal area (TCA), luminal area (LA), stromal area (SA), and choroidal vascularity index (CVI).

Main Results:

  • MKD patients showed significantly higher LA (p=0.042) and CVI (p=0.014) compared to controls.
  • Mean central macular thickness was lower in MKD patients (p=0.030), while SFCT was comparable (p=0.325).
  • No significant differences were found in other macular microvascular parameters between groups.

Conclusions:

  • Childhood-onset MKD is associated with increased choroidal vascularity and altered macular thickness.
  • Macular microvascular parameters were comparable between MKD patients and controls.
  • Findings suggest subtle choroidal vascular composition changes in MKD, potentially inflammation-related, but require cautious interpretation due to canakinumab treatment and need for longitudinal validation.