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ALS also causes retinal damage, study finds


Amyotrophic lateral sclerosis (ALS), characterized by damage to neurons in the brain and spinal cord, also affects retinal tissue, according to a study led by the Universidad Complutense de Madrid (UCM).

The research, published in Neuronal regeneration research, indicates that patients with ALS may experience changes in the microglial cells, which are responsible for protecting and defending neurons, as well as loss of ganglion cells – the neurons in the retina.

These alterations detected in this disease can serve as biomarkers for the diagnosis and monitoring of patients with ALS, and to verify the effectiveness of different treatments through a simple, non-invasive and less expensive form of monitoring. “

Pilar Rojas, Researcher, Ramón Castroviejo Institute for Ocular Research (IIORC), UCM

In addition to describing changes in the retina, the work also indicates that these changes evolve over the course of the disease. The microglia changes from an M2 (anti-inflammatory) state or phenotype in the early stages to M1 (pro-inflammatory) in the later stages.

“This had been observed in the spinal cord of these patients, but not in the retina, which is a step forward as it may be less invasive in monitoring patients,” said Rosa de Hoz of the IIORC.

First detection in humans, confirmation in mice

The study was carried out at IIORC, in collaboration with the biochemistry department of UCM, the Gregorio Marañón General University Hospital in Madrid, the OFTARED ophthalmology network of the Carlos III Health Institute and the network RetiBrain from the Ministry of Science, Innovation and Universities.

During the study, researchers recorded retinal alterations using optical coherence tomography (OCT) – a non-invasive test that performs analysis of the retina and optic nerve, able to observe minor changes that are often invisible to the human eye. “, says co-author Ana Isabel Ramírez.

Once detected in vivo in humans, they confirmed this in an animal model through microscopic analysis with immunohistochemical techniques in mice with a superoxide dismutase-1 mutation – one of the most common in humans with ALS.

“Our group has done extensive research on retinal changes in different neurodegenerative diseases, such as Alzheimer’s disease. However, few studies have described what happens in the retina and more specifically in the microglial cells of ALS. “, concludes José Manuel Ramírez, professor of ophthalmology at UCM and the director of IIROC, by way of summary.


Complutense University of Madrid

Journal reference:

Ramirez, A., et al. (2021) Amyotrophic lateral sclerosis, a neurodegenerative disease of motor neurons with retinal involvement. Research on neuronal regeneration. doi.org/10.4103/1673-5374.324841.