Melanopsin-expressing retinal ganglion cells: implications for human diseases
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In the last decade, there was the seminal discovery of melanopsin-expressing retinal ganglion cells (mRGCs) as a new class of photoreceptors that subserve the photoentrainment of circadian rhythms and other non-image forming functions of the eye. Since then, there has been a growing research interest on these cells, mainly focused on animal models. Only recently, a few studies have started to address the relevance of the mRGC system in humans and related diseases. We recently discovered that mRGCs resist neurodegeneration in two inherited mitochondrial disorders that cause blindness, i.e. Leber hereditary optic neuropathy and dominant optic atrophy. The mechanism leading to mRGCs sparing in these blinding disorders, characterized by extensive and selective loss of RGCs, is currently unknown and under investigation. Other studies reported on mRGCs in glaucoma, on genetic variation of the melanopsin gene (OPN4) in seasonal affective disorder and on the role of mRGCs in migraineous photophobia. Our own data and studies from others have shown a significant reduction of mRGCs with aging. We anticipate that these studies will lead to many other investigations addressing the role of mRGCs and circadian photoreception in the pathogenesis of circadian and sleep abnormalities in neurodegenerative disorders.
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In AD retinas, in addition to RGC loss, melanopsin retinal ganglion cells (mRGC) are lost.
“Postmortem studies in AD retinas, have demonstrated that, in addition to RGC loss, melanopsin retinal ganglion cells (mRGC) are lost.”
From The role of microglia in retinal neurodegeneration: Alzheimer’s disease, parkinson, and glaucoma. (2017) · cites this paper as La Morgia et al., 2011
The melanopsin photoreceptive system is associated with circadian entrainment and other non-visual responses to light including photophobia.
“as this is associated with both circadian entrainment and other non-visual responses to light including photophobia (La Morgia et al. 2011)”
From A systematic review of circadian function, chronotype and chronotherapy in attention deficit hyperactivity disorder (2017) · cites this paper as La Morgia et al. 2011
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Melanopsin Triggers the Release of Internal Calcium Stores in Response to Light†
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Circadian rhythm sleep disorders: lessons from the blind
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Relative afferent pupillary defect in glaucoma: a pupillometric study
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Relative afferent pupillary defect in glaucoma: a pupillometric study
Kalaboukhova, L., Fridhammar, V., & Lindblom, B. (2007) · Acta Ophthalmologica Scandinavica · doi:10.1111/j.1755-3768.2006.00863.x · Cited by 35 · see citing works
The pupil in dominant optic atrophy.
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Self-citationBright light suppresses melatonin in blind patients with neuronal ceroid-lipofuscinoses
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Injury-resistant retinal ganglion cells that are rich in cytochrome oxidase
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A dynamic model of circadian rhythms in rodent tail skin temperature for comparison of drug effects
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Melanopsin Mediated Photophobia in Adult Rodless and Coneless Mice
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Understanding the Complexity of ipRGCs Targeting and Functions
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Flagged first, then by citations
Research works printed but not linked: 2
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Cited by
Sorted by citations
Visual dysfunction in Parkinson’s disease
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The role of microglia in retinal neurodegeneration: Alzheimer’s disease, parkinson, and glaucoma.
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Coogan, A. N., & McGowan, N. M. (2017) · ADHD Attention Deficit and Hyperactivity Disorders · doi:10.1007/s12402-016-0214-5 · Cited by 208 · see citing works
Intrinsically photosensitive retinal ganglion cells of the human retina
Mure, L. S. (2021) · Frontiers in Neurology · doi:10.3389/fneur.2021.636330 · Cited by 151 · see citing works
- Authors
- La Morgia, C., Ross-Cisneros, F. N., Hannibal, J., Montagna, P., Sadun, A. A., & Carelli, V.
- Affiliations
- University of Copenhagen (DK)
- University of Bologna (IT)
- University of Southern California (US)
- Venue
- Vision Research
- Publisher
- Elsevier BV
- Published
- 2011-01
- Volume
- 51
- Issue
- 2
- Pages
- 296-302
- ISSN
- 0042-6989 (ISSN-L)
- OpenAlex
- W2000714496
- Cited by
- 84
- References
- 116
- Citations by year
- 2026: 7 · 2025: 2 · 2024: 2 · 2023: 3 · 2022: 3 · 2021: 2 · 2020: 2 · 2019: 5 · 2018: 6 · 2017: 7 · 2016: 12 · 2015: 7 · 2014: 9 · 2013: 6 · 2012: 7
- FWCI
- 0.51
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Vision Research (publishedVersion)
- PubMed (publishedVersion)
- Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) (submittedVersion)
- Topics
- Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Circadian rhythm and melatonin
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Visual perception and processing mechanisms
- Keywords
- circadian photoreception, non-image-forming vision, circadian entrainment, Leber's hereditary optic neuropathy, autosomal dominant optic atrophy, neuroprotection, glaucoma, seasonal affective disorder, aging, neurodegenerative diseases, sleep disorders
- MeSH terms
- Melanopsin, Humans, Retinal Diseases, Retinal Ganglion Cells, Visual Pathways, Seasonal Affective Disorder, Rod Opsins, Photophobia, Mitochondrial Diseases
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
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