Spectrum of ocular manifestations in CLN2-associated batten (Jansky-Bielschowsky) disease correlate with advancing age and deteriorating neurological function. Academic Article Article uri icon

Overview

MeSH

  • Adolescent
  • Adult
  • Age Factors
  • Aged
  • Aged, 80 and over
  • Aminopeptidases
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Serine Proteases
  • Severity of Illness Index

MeSH Major

  • Eye Diseases
  • Neuronal Ceroid-Lipofuscinoses

abstract

  • Late infantile neuronal ceroid lipofuscinosis (LINCL), one form of Batten's disease is a progressive neurodegenerative disorder resulting from a CLN2 gene mutation. The spectrum of ophthalmic manifestations of LINCL and the relationship with neurological function has not been previously described. Patients underwent ophthalmic evaluations, including anterior segment and dilated exams, optical coherence tomography, fluorescein and indocyanine green angiography. Patients were also assessed with the LINCL Neurological Severity Scale. Ophthalmic findings were categorized into one of five severity scores, and the association of the extent of ocular disease with neurological function was assessed. Fifty eyes of 25 patients were included. The mean age at the time of exam was 4.9 years (range 2.5 to 8.1). The mean ophthalmic severity score was 2.6 (range 1 to 5). The mean neurological severity score was 6.1 (range 2 to 11). Significantly more severe ophthalmic manifestations were observed among older patients (p<0.005) and patients with more severe neurological findings (p<0.03). A direct correlation was found between the Ophthalmic Severity Scale and the Weill Cornell Neurological Scale (p<0.002). A direct association was also found between age and the ophthalmic manifestations (p<0.0002), with older children having more severe ophthalmic manifestations. Ophthalmic manifestations of LINCL correlate closely with the degree of neurological function and the age of the patient. The newly established LINCL Ophthalmic Scale may serve as an objective marker of LINCL severity and disease progression, and may be valuable in the evaluation of novel therapeutic strategies for LINCL, including gene therapy.

publication date

  • 2013

has subject area

  • Adolescent
  • Adult
  • Age Factors
  • Aged
  • Aged, 80 and over
  • Aminopeptidases
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
  • Eye Diseases
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Neuronal Ceroid-Lipofuscinoses
  • Serine Proteases
  • Severity of Illness Index

Research

keywords

  • Clinical Trial
  • Journal Article
  • Multicenter Study

Identity

Language

  • eng

PubMed Central ID

  • PMC3756041

Digital Object Identifier (DOI)

  • 10.1371/journal.pone.0073128

PubMed ID

  • 24015292

Additional Document Info

start page

  • e73128

volume

  • 8

number

  • 8