Peripheral retinal finding on fluorescein angiography in neuronal ceroid lipofuscinosis type 2 (CLN2)

J AAPOS. 2024 Apr;28(2):103830. doi: 10.1016/j.jaapos.2024.103830. Epub 2024 Feb 9.

Abstract

Classically, peripheral vascular changes in the retina in patients with neuronal ceroid lipofuscinosis type 2 (CLN2) are described as vascular attenuation seen in the late stages of disease on the Weill Connell Ophthalmic Severity Score (WCOSS) staging system. We describe isolated, mild, peripheral vasculitis with peripheral arteriolar dropout identified by fluorescein angiography in patients with a WCOSS grade of stage 2. We believe this vasculitis represents an early vasodegenerative phase of disease that leads to the vascular attenuation seen in later stages of the disease.

MeSH terms

  • Aminopeptidases
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
  • Fluorescein Angiography
  • Humans
  • Neuronal Ceroid-Lipofuscinoses* / diagnosis
  • Retina
  • Serine Proteases
  • Tripeptidyl-Peptidase 1
  • Vasculitis*

Substances

  • Aminopeptidases
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
  • Serine Proteases
  • Tripeptidyl-Peptidase 1