Identification & Diagnosis

Other Clinical Evaluations

Other clinical assessments may provide findings indicative of CLN2 disease

Ophthalmological assessments

Though blindness occurs later in the progression of CLN2 disease, visual abnormalities may be identified using certain ophthalmologic assessments.1

Ocular coherence tomography (OCT)

OCT can demonstrate progression of CLN2 disease via retinal degeneration and accumulation of hyper-reflective material.2,3

Note: This image is of an 8-year-old patient, reflecting late-stage advances of CLN2 disease.2

Fluorescein angiography (FA)

FA can be used to evaluate vascular leakage.2

Visual evoked potential (VEP)

VEPs are abnormally enhanced until late in the disease and diminish in the final stage of the disease.4

Electroretinogram (ERG)

ERG may be diminished before visual deterioration is clinically detected.4,5

Additional clinical tests used to identify CLN2 disease

Electron microscopy (EM)

Although the use of electron microscopy in clinical practice has decreased worldwide, it is used to detect the distinct curvilinear structure of ceroid lipofuscin in suspected cases, often when other tests are inconclusive.1

There are a number of clinical tests that can help identify CLN2, but only molecular and/or enzymatic testing can definitively diagnose CLN2 disease.

References:

  1. Malik K, Santucci K, Sremba L, et al. Neuronal Ceroid Lipofuscinoses Overview. 2001 Oct 10 [Updated 2025 May 29]. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026.
  2. Orlin A, Sondhi D, Witmer MT, et al. Spectrum of ocular manifestations in CLN2-associated Batten (Jansky-Bielschowsky) Disease correlate with advancing age and deteriorating neurological function. PLoS One. 2013;8:e73128. 2013;8:e73128. doi:10.1371/journal.pone.0073128.
  3. Williams RE, Adams HR, Blohm M, et al. Management Strategies for CLN2 Disease. Pediatr Neurol. 2017 Apr;69:102-112. doi: 10.1016/j.pediatrneurol.2017.01.034.
  4. Chang M, Cooper JD, Davidson BL, et al. CLN2. In: Mole S, Williams R, and Goebel H, eds. The neuronal ceroid lipofuscinoses (Batten Disease). 2nd ed. Oxford, United Kingdom: Oxford University Press; 2011.
  5. Mole SE, Williams RE, and Goebel HH. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics. 2005;6:107-126.