RPE Dysfunction in Batten Disease

Article: New Research Sheds Light on Vision Loss in Batten Disease
Source: University of Rochester Medicine, via ScienceDaily  and NEI
Published: February 5, 2021

Multimodal imaging of a normal eye (A-C) and in
an eye of a 7-year-old patient with CLN3 disease (D-F)

Juvenile neuronal ceroid lipofuscinosis (JNCL) or CLN3-Batten disease is a rare autosomal recessive retinal degenerative disease caused by mutations to the CLN3 gene. Children missing this gene on chromosome 16 are unable to produce certain proteins necessary for cellular function of the photoreceptors, and eventually also develop cognitive and neuromuscular decline. Many individuals with Batten disease do not survive past their third decade of life. Batten disease has been challenging to study and diagnose. Because visual problems present much earlier than neurological problems, children with Batten disease are often misdiagnosed with more common retinal diseases. Furthermore, mouse models of the CLN3 gene mutation do not produce the retinal degeneration or vision loss found in humans, and examination of eye tissues post-mortem reveal extensive damage that make it difficult to determine the precise mechanism that lead to vision loss. Researchers at the University of Rochester Batten Center recently made progress in the study of this disease through human-induced pluripotent stem cells (iPSCs) engineered from the skin cells of patients and unaffected family members, which then were used to create retinal cells possessing the CLN3 mutation. Perhaps not unexpectedly, the new research revealed that proper function of CLN3 is necessary for retinal pigment epithelium (RPE) cellular structure. By locating the mechanism of Batten disease at the RPE, research into this very rare eye disease could both inform and benefit from advances in research into other retinal diseases caused by RPE dysfunction.

My rating of this study: ⭐⭐

Tang C, Han J, Dalvi S, et al. "A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface." Communications Biology.  4(161). 5 February 2021. https://doi.org/10.1038/s42003-021-01682-5