OPN4, opsin 4, 94233

N. diseases: 87; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085636
Disease: Photophobia
Photophobia
0.080 Biomarker phenotype BEFREE Analysis showed significantly greater activation in bilateral pulvinar nuclei, associated with the melanopsin intrinsically photosensitive retinal ganglion cell (ipRGC) visual pathway, and their activation is consistent with the patient's report that blue light differentially evoked photophobia. 31795037 2019
CUI: C0085636
Disease: Photophobia
Photophobia
0.080 Biomarker phenotype BEFREE We assessed the efficacy of blocking wavelengths of melanopsin absorption to reduce blinking in blepharospasm as a possible surrogate for photophobia. 31621610 2019
CUI: C0085636
Disease: Photophobia
Photophobia
0.080 Biomarker phenotype BEFREE In this review, we briefly summarise the melanopsin system in the normal retina and discuss its role in connection to human aging (sleep/wake problems) and retinal pathology in Alzheimer and Parkinson diseases, diabetic retinopathy, mitochondrial optic neuropathies, glaucoma, retinitis pigmentosa, and in photophobia during migraine and in seasonal affective disorder (SAD). 31219170 2019
CUI: C0085636
Disease: Photophobia
Photophobia
0.080 Biomarker phenotype BEFREE Melanopsin-containing photoreceptors called intrinsically photosensitive retinal ganglion cells (ipRGCs) have been identified in the retina and explain the rational for photophobia in individuals who are blind. 30058044 2018
CUI: C0085636
Disease: Photophobia
Photophobia
0.080 Biomarker phenotype BEFREE This is the first psychometric assessment designed around melanopsin spectral properties that can be customized further to assess photophobia in different clinical populations. 29625469 2018
CUI: C0085636
Disease: Photophobia
Photophobia
0.080 Biomarker phenotype BEFREE Melanopsin-mediated pupillary constriction resulted in a substantial reduction in the light sensitivity of the ChR2-mediated OMR. 29625451 2018
CUI: C0085636
Disease: Photophobia
Photophobia
0.080 Biomarker phenotype BEFREE This finding is the first in vivo evidence in humans, supporting the hypothesis that light-induced reflex lacrimation is mediated primarily by melanopsin photoactivity, and provides new insight into the putative mechanisms of photophobia. 28264100 2017
CUI: C0085636
Disease: Photophobia
Photophobia
0.080 Biomarker phenotype BEFREE 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. 20691201 2011