Juvenile neuronal ceroid lipofuscinosis (JNCL, aka. juvenile Batten disease or CLN3 disease), a lethal pediatric neurodegenerative disease without cure, often presents with vision impairment and characteristic ophthalmoscopic features including focal areas of hyper-autofluorescence. In the associated research article “Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium” (Zhong et al., 2020) , we reported ophthalmoscopic observations of focal autofluorescent lesions or puncta in the Cln3Δex7/8 mouse retina at as young as 8 month old. In this data article, we performed differential interference contrast and confocal imaging analyses in all retinal layers to localize and characterize these autofluorescent lesions, including their spectral characteristics and morphology. We further studied colocalization of these autofluorescent lesions with the JNCL marker mitochondrial ATP synthase F0 sub-complex subunit C and various established retinal cell type markers.
|Journal||Data in Brief|
|State||Published - Oct 2020|
Bibliographical noteFunding Information:
This work was supported by National Institutes of Health Center of Biomedical Research Excellence (COBRE) award P20GM121327 (pilot grant to Q.J.W.), and National Institutes of Health EY028206 and BrightFocus Foundation (to M.E.K.). Q.J.W. also thank Drs. Susan L. Cotman (Massachusetts General Hospital) and Wai T. Wong (National Eye Institute, NIH) for suggestions of subunit C and IBA1 antibodies, respectively .
- Juvenile Neuronal Ceroid Lipofuscinosis
- autofluorescent lesions
- mitochondrial ATP synthase F0 sub-complex subunit C
- vision loss
ASJC Scopus subject areas