Pupil responses derived from outer and inner retinal photoreception are normal in patients with hereditary optic neuropathy

Kawasaki, Aki; Collomb, S.; Léon, Lorette; Münch, Mirjam

doi:10.1016/j.exer.2013.11.005

Cited by 37 publications

(33 citation statements)

References 17 publications

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“…Based on previous investigations using this apparatus20394546, we defined 4 testing protocols which selected for afferent pupillomotor input derived primarily from synaptic signals from outer retinal photoreceptors (rods and cones) or from its intrinsic melanopsin activity of ipRGCs . For the first three testing protocols, each eye was tested monocularly.…”

Section: Methodsmentioning

confidence: 99%

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Differential monocular vs. binocular pupil responses from melanopsin-based photoreception in patients with anterior ischemic optic neuropathy

Tsika

Crippa

Kawasaki

2015

Sci Rep

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We examined the effect of anterior ischemic optic neuropathy (AION) on the activity of intrinsically photosensitive retinal ganglion cells (ipRGCs) using the pupil as proxy. Eighteen patients with AION (10 unilateral, 8 bilateral) and 29 age-matched control subjects underwent chromatic pupillometry. Red and blue light stimuli increasing in 0.5 log steps were presented to each eye independently under conditions of dark and light adaptation. The recorded pupil contraction was plotted against stimulus intensity to generate scotopic and photopic response curves for assessment of synaptically-mediated ipRGC activity. Bright blue light stimuli presented monocularly and binocularly were used for melanopsin activation. The post-stimulus pupil size (PSPS) at the 6th second following stimulus offset was the marker of intrinsic ipRGC activity. Finally, questionnaires were administered to assess the influence of ipRGCs on sleep. The pupil response and PSPS to all monocularly-presented light stimuli were impaired in AION eyes, indicating ipRGC dysfunction. To binocular light stimulation, the PSPS of AION patients was similar to that of controls. There was no difference in the sleep habits of the two groups. Thus after ischemic injury to one or both optic nerves, the summated intrinsic ipRGC activity is preserved when both eyes receive adequate light exposure.

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Section: Methodsmentioning

confidence: 99%

“…This robustness of ipRGCs is the basis for the visual-pupillary dissociation that is observed in patients with isolated hereditary mitochondrial optic neuropathy. These patients have significant visual loss and optic atrophy in both eyes and yet demonstrate normal pupil responses to light and have normally entrained sleep-wake cycles192021.…”

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confidence: 99%

Differential monocular vs. binocular pupil responses from melanopsin-based photoreception in patients with anterior ischemic optic neuropathy

Tsika

Crippa

Kawasaki

2015

Sci Rep

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“…Relatively recent advances in the understanding of the neural mechanisms that mediate the pupil response have greatly renewed interest in pupillometry as a tool for assessing retinal function in patients with acquired91011 and inherited12131415 retinal disease. That is, the afferent limb of the pupillary response to light is now thought to be driven primarily by intrinsically photosensitive retinal ganglion cells (ipRGCs) that contain the photopigment melanopsin1617.…”

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confidence: 99%

Pupillary responses in non-proliferative diabetic retinopathy

Park

Chen

Blair

et al. 2017

Sci Rep

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The goal of this study was to determine the extent of rod-, cone-, and melanopsin-mediated pupillary light reflex (PLR) abnormalities in diabetic patients who have non-proliferative diabetic retinopathy (NPDR). Fifty diabetic subjects who have different stages of NPDR and 25 age-equivalent, non-diabetic controls participated. PLRs were measured in response to full-field, brief-flash stimuli under conditions that target the rod, cone, and intrinsically-photosensitive (melanopsin) retinal ganglion cell pathways. Pupil responses were compared among the subjects groups using age-corrected linear mixed models. Compared to control, the mean baseline pupil diameters were significantly smaller for all patient groups in the dark (all p < 0.001) and for the moderate-severe NPDR group in the light (p = 0.003). Pairwise comparisons indicated: (1) the mean melanopsin-mediated PLR was significantly reduced in the mild and moderate-severe groups (both p < 0.001); (2) the mean cone-mediated PLR was reduced significantly in the moderate-severe group (p = 0.008); (3) no significant differences in the mean rod-mediated responses. The data indicate abnormalities in NPDR patients under conditions that separately assess pupil function driven by different photoreceptor classes. The results provide evidence for compromised neural function in these patients and provide a promising approach for quantifying their neural abnormalities.

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“…These cells are about 1% of the total RGCs and they contribute mainly to circadian photo-entrainment, but through the retinal projections to the olivary pretectal nucleus (OPN), they also regulate the pupillary light reflex. Clinical studies demonstrated the maintenance of the pupil responses in LHON patients (31, 32). The diagnostic workup in LHON also may include other neurophysiologic tests such as visual evoked potentials (VEPs) that reveal delayed latency and reduced amplitude of cortical responses and pattern electroretinograms (PERGs), which demonstrate reduced amplitude and delayed latency of responses (33).…”

Section: Clinical Presentation Of Lhon/doa and Clinical Workupmentioning

confidence: 99%

Medical Management of Hereditary Optic Neuropathies

Morgia

Carbonelli²,

Barboni

et al. 2014

Front. Neurol.

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Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber’s hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA). They both share a mitochondrial pathogenesis that leads to the selective loss of retinal ganglion cells and axons, in particular of the papillo-macular bundle. Typically, LHON is characterized by an acute/subacute loss of central vision associated with impairment of color vision and swelling of retinal nerve fibers followed by optic atrophy. DOA, instead, is characterized by a childhood-onset and slowly progressive loss of central vision, worsening over the years, leading to optic atrophy. The diagnostic workup includes neuro-ophthalmologic evaluation and genetic testing of the three most common mitochondrial DNA mutations affecting complex I (11778/ND4, 3460/ND1, and 14484/ND6) for LHON and sequencing of the nuclear gene OPA1 for DOA. Therapeutic strategies are still limited including agents that bypass the complex I defect and exert an antioxidant effect (idebenone). Further strategies are aimed at stimulating compensatory mitochondrial biogenesis. Gene therapy is also a promising avenue that still needs to be validated.

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Pupil responses derived from outer and inner retinal photoreception are normal in patients with hereditary optic neuropathy

Cited by 37 publications

References 17 publications

Differential monocular vs. binocular pupil responses from melanopsin-based photoreception in patients with anterior ischemic optic neuropathy

Differential monocular vs. binocular pupil responses from melanopsin-based photoreception in patients with anterior ischemic optic neuropathy

Pupillary responses in non-proliferative diabetic retinopathy

Medical Management of Hereditary Optic Neuropathies

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