Evidence for preserved direct pupillary light response in Leber's hereditary optic neuropathy.

Wakakura, Masato; Yokoe, Junko

doi:10.1136/bjo.79.5.442

Cited by 61 publications

(37 citation statements)

References 16 publications

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“…For example, there have been a number of case reports of apparently normal pupil reactions in patients with Leber's hereditary optic neuropathy. [61][62][63] This 'pupil sparing' was confirmed in some later studies 64 but not in others. 65,66 The controversy has since been resolved by comparing pupil perimetry and visual perimetry results at corresponding retinal locations; the results confirm that visual field deficits exceed pupil afferent deficits by on average 7.5 dB at all retinal locations.…”

Section: Visual Testssupporting

confidence: 64%

Pupil assessment in optic nerve disorders

Bremner

2004

Eye

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Background The normal pupillary constriction to light is an involuntary reflex that can be easily elicited and observed without specialized equipment or discomfort to the patient. Attenuation of this reflex in optic nerve disorders was first described 120 years ago. Since then, pupil examination has become a routine part of the assessment of optic nerve disease. Clinical techniques The original cover/ uncover test compares pupillomotor drive in the two eyes, but requires two working pupils and is relatively insensitive. The swinging flashlight test is now the standard clinical tool to detect pupillomotor asymmetry. It requires only one working pupil, is easily quantified, and has high sensitivity in experienced hands, but interpretation of the results needs care.

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Section: Visual Testssupporting

confidence: 64%

Pupil assessment in optic nerve disorders

Bremner

2004

Eye

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“…11 The Farnsworth-Munsell 100-Hue test may be the earliest indicator of optic nerve dysfunction, but subtle abnormalities of colour vision can be demonstrated in asymptomatic family members. 29 Pupillary light responses may be relatively preserved when compared with the responses in patients with optic neuropathies from other causes, 11,30 although others have not confirmed this finding. 31 Visual field defects are typically central or cecocentral 6,7,11,29 (Figure 1).…”

Section: Leber's Hereditary Optic Neuropathymentioning

confidence: 99%

Hereditary optic neuropathies

Newman

Biousse

2004

Eye

153

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Aims To provide a clinical update on the hereditary optic neuropathies. Methods Review of the literature. Results The hereditary optic neuropathies comprise a group of disorders in which the cause of optic nerve dysfunction appears to be hereditable, based on familial expression or genetic analysis. In some hereditary optic neuropathies, optic nerve dysfunction is typically the only manifestation of the disease. In others, various neurologic and systemic abnormalities are regularly observed. Conclusion The most common hereditary optic neuropathies are autosomal dominant optic atrophy (Kjer's disease) and maternally inherited Leber's hereditary optic neuropathy. We review the clinical phenotypes of these and other inherited disorders with optic nerve involvement.

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“…However, in patients with mitochondrial optic neuropathies, there can be visual-pupillary dissociation such that even with severe visual loss, there is some pupillary sparing. [6][7][8][9] In Leber's hereditary optic neuropathy (LHON), a maternally inherited form of optic neuropathy due to mitochondrial DNA point mutations 10,11 some have found a reduced PLR, 12,13 while others have found a relatively preserved response. 6,7 LHON is characterized by a severe loss of RGCs that begins with those that constitute the papillomacular bundle, but eventually produces generalized retinal ganglion cells (RGC) loss.…”

mentioning

confidence: 99%

“…[6][7][8][9] In Leber's hereditary optic neuropathy (LHON), a maternally inherited form of optic neuropathy due to mitochondrial DNA point mutations 10,11 some have found a reduced PLR, 12,13 while others have found a relatively preserved response. 6,7 LHON is characterized by a severe loss of RGCs that begins with those that constitute the papillomacular bundle, but eventually produces generalized retinal ganglion cells (RGC) loss. The relative preservation of the PLR observed in some patients with LHON has been hypothesized to be due to the relative sparing of the melanopsin-expressing (mRGCs) cells, which are mediators of the PLR.…”

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confidence: 99%

The Pupil Light Reflex in Leber's Hereditary Optic Neuropathy: Evidence for Preservation of Melanopsin-Expressing Retinal Ganglion Cells

Moura

Nagy

Morgia

et al. 2013

Invest. Ophthalmol. Vis. Sci.

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Citation: Moura ALA, Nagy BV, La Morgia C, et al. The pupil light reflex in Leber's hereditary optic neuropathy: evidence for preservation of melanopsin-expressing retinal ganglion cells. Invest Ophthalmol Vis Sci. 2013;54:4471-4477. DOI: 10.1167/iovs.12-11137 PURPOSE. To investigate the pupillary light reflex (PLR) of patients with severe loss of vision due to Leber's Hereditary Optic Neuropathy (LHON) in the context of a proposed preservation of melanopsin-expressing retinal ganglion cells (mRGCs). METHODS.Ten LHON patients (7 males; 51.6 6 14.1 years), with visual acuities ranging from 20/400 to hand motion perception and severe visual field losses, were tested and compared with 16 healthy subjects (7 males; 42.15 6 15.4 years) tested as controls. PLR was measured with an eye tracker and the stimuli were controlled with a Ganzfeld system. Pupil responses were measured monocularly, to 1 second of blue (470 nm) and red (640 nm) flashes with 1, 10, 100, and 250 cd/m 2 luminances. The normalized amplitude of peak of the transient PLR and the amplitude of the sustained PLR at 6 seconds after the flash offset were measured. In addition, optical coherence topography (OCT) scans of the peripapillary retinal nerve fiber layer were obtained.RESULTS. The patient's peak PLR responses were on average 15% smaller than controls (P < 0.05), but 5 out of 10 patients had amplitudes within the range of controls. The patients' sustained PLRs were comparable with controls at lower flash intensities, but on average, 27% smaller to the 250 cd/m 2 blue light, although there was considerable overlap with the PLR amplitudes of control. All patients had severe visual field losses and the retinal nerve fiber layer thickness was reduced to a minimum around the optic disc in 8 of the 10 patients.CONCLUSIONS. The PLR is maintained overall in LHON patients despite the severity of optic atrophy. These results are consistent with previous evidence of selective preservation of mRGCs.

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Evidence for preserved direct pupillary light response in Leber's hereditary optic neuropathy.

Abstract: Aims/Background

Cited by 61 publications

References 16 publications

Pupil assessment in optic nerve disorders

Pupil assessment in optic nerve disorders

Hereditary optic neuropathies

The Pupil Light Reflex in Leber's Hereditary Optic Neuropathy: Evidence for Preservation of Melanopsin-Expressing Retinal Ganglion Cells

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