Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells.

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Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells. is …
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scholarly articleQ13442814

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P356DOI10.1167/IOVS.17-21909
P932PMC publication ID5490362
P698PubMed publication ID28660274

P50authorDavid B McGuiganQ58049555
Jason CharngQ86042189
Samuel G. JacobsonQ42410256
P2093author name stringElise Heon
Alejandro J Roman
Artur V Cideciyan
Malgorzata Swider
Mychajlo S Kosyk
Rebecca Sheplock
P2860cites workMelanopsin and rod-cone photoreceptive systems account for all major accessory visual functions in miceQ24634030
Short-wavelength light sensitivity of circadian, pupillary, and visual awareness in humans lacking an outer retinaQ24684932
Melanopsin-expressing ganglion cells in primate retina signal colour and irradiance and project to the LGNQ28235603
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial LectureQ28255087
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trialQ28262431
Illumination of the melanopsin signaling pathwayQ28305019
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosisQ28305398
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathyQ30498337
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 yearsQ30537764
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Assessing rod, cone, and melanopsin contributions to human pupil flicker responsesQ30570998
Comparison of acute non-visual bright light responses in patients with optic nerve disease, glaucoma and healthy controlsQ30669083
Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutationQ33288985
Post-illumination pupil response in subjects without ocular disease.Q33845571
A "melanopic" spectral efficiency function predicts the sensitivity of melanopsin photoreceptors to polychromatic lights.Q34202211
Melanopsin gene polymorphism I394T is associated with pupillary light responses in a dose-dependent mannerQ34337125
Intrinsically photosensitive (melanopsin) retinal ganglion cell function in glaucomaQ50278600
Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials.Q50947743
Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene.Q50998128
Leber Congenital Amaurosis: Genotypes and Retinal Structure PhenotypesQ58377991
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The spectral sensitivity of the consensual light reflexQ76431687
Disorders of the pupilQ84160445
Opponent melanopsin and S-cone signals in the human pupillary light responseQ34442033
A visual circuit uses complementary mechanisms to support transient and sustained pupil constrictionQ34541141
Leber congenital amaurosis: genes, proteins and disease mechanismsQ34796759
The post-illumination pupil response is reduced in glaucoma patients.Q34831407
Photon capture and signalling by melanopsin retinal ganglion cells.Q34913494
Pseudo-fovea formation after gene therapy for RPE65-LCA.Q34999841
Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapyQ35132187
Toward a clinical protocol for assessing rod, cone, and melanopsin contributions to the human pupil responseQ35221107
Pupillary Responses to High-Irradiance Blue Light Correlate with Glaucoma SeverityQ35753239
Rhodopsin and Melanopsin Contributions to the Early Redilation Phase of the Post-Illumination Pupil Response (PIPR).Q36109184
Full-Field Pupillary Light Responses, Luminance Thresholds, and Light Discomfort Thresholds in CEP290 Leber Congenital Amaurosis PatientsQ36252686
Melanopsin and rod-cone photoreceptors play different roles in mediating pupillary light responses during exposure to continuous light in humansQ36448953
Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutantsQ36709692
Adaptation to steady light by intrinsically photosensitive retinal ganglion cellsQ36820224
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kineticsQ36937189
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutationsQ37317693
The influence of intrinsically-photosensitive retinal ganglion cells on the spectral sensitivity and response dynamics of the human pupillary light reflex.Q37480948
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.Q37635389
Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene.Q37641855
The diagnostic accuracy of chromatic pupillary light responses in diseases of the outer and inner retinaQ38804588
Available Evidence on Leber Congenital Amaurosis and Gene TherapyQ38968148
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosaQ39909289
Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.Q39973030
Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosisQ40523047
Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.Q41643474
Human and macaque pupil responses driven by melanopsin-containing retinal ganglion cellsQ42288630
Determination of Rod and Cone Influence to the Early and Late Dynamic of the Pupillary Light ResponseQ42786166
Treatment possibilities for retinitis pigmentosaQ42852876
Melanopsin is expressed in PACAP-containing retinal ganglion cells of the human retinohypothalamic tractQ45124600
Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measuresQ45238349
Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remainingQ45862739
Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potentialQ45866090
Retinal optogenetic therapies: clinical criteria for candidacyQ45886746
Photoreceptor degeneration in vitamin A deprivation and retinitis pigmentosa: the equivalent light hypothesis.Q46607690
Pupillary correlates of light-evoked melanopsin activity in humansQ46762339
Synaptic influences on rat ganglion-cell photoreceptorsQ48164141
Melanopsin-expressing ganglion cells in human retina: Morphology, distribution, and synaptic connections.Q48342205
Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D MutationsQ48827784
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue7
P407language of work or nameEnglishQ1860
P921main subjectretinal ganglion cellQ927337
photoreceptor proteinQ7187894
P304page(s)3215-3224
P577publication date2017-06-01
P1433published inInvestigative Ophthalmology Visual ScienceQ6060707
P1476titlePupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells
P478volume58

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cites work (P2860)
Q54935899A Robust Optomotor Assay for Assessing the Efficacy of Optogenetic Tools for Vision Restoration.
Q90152961Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision
Q54558127Sleep in Children with Congenital Malformations of the Central Nervous System.
Q89844598Transient pupillary light reflex in CEP290- or NPHP5-associated Leber congenital amaurosis: Latency as a potential outcome measure of cone function

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