The ‘dark’ side of sedation: 12 years of office‐based pediatric deep sedation for electroretinography in the dark

Lalwani, Kirk; Tompkins, Brian D.; Burnes, Kevin; Krahmer, Melissa R.; Pennesi, Mark E.; Weleber, Richard G.

doi:10.1111/j.1460-9592.2010.03462.x

Cited by 11 publications

(7 citation statements)

References 12 publications

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“…The mean (SD) age was 4.2 (2.4) years with a range of 0.8 to 7.8 years for the patients with achromatopsia and 4.0 (2.1) years with a range of 1.3 to 7.0 years for the control participants. Using a propofol sedation protocol as previously described, 28 patients had a complete ocular examination, ffERG, color fundus photography, handheld SD-OCT, and blood draw for genetic testing. The clinical diagnosis of achromatopsia was based on a history of congenital decreased vision, nystagmus, photophobia, a severely attenuated or absent cone response with a normal or mildly subnormal rod response on ffERG, and otherwise normal findings on ophthalmic examination.…”

Section: Participantsmentioning

confidence: 99%

Retinal Morphology of Patients With Achromatopsia During Early Childhood

et al. 2014

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IMPORTANCE While older children and adults with achromatopsia have been studied, less is known of young children with achromatopsia.OBJECTIVES To characterize the macular and foveal architecture of patients with achromatopsia during early childhood with handheld spectral-domain optical coherence tomographic imaging and to make phenotype-genotype correlations.DESIGN, SETTING, AND PARTICIPANTS Comparative case series of 9 patients with achromatopsia and 9 age-matched control participants at a tertiary ophthalmology referral center.MAIN OUTCOMES AND MEASURES Patients underwent complete ocular examination, full-field electroretinography, handheld spectral-domain optical coherence tomographic imaging, and screening for genetic mutations. RESULTSThe mean (SD) age of the patients with achromatopsia was 4.2 (2.4) years, and the mean (SD) age of the control participants was 4.0 (2.1) years. Cone-driven responses to photopic single-flash or 30-Hz stimuli were nonrecordable in 7 patients and severely attenuated in 2. Rod-driven responses to dim scotopic single-flash stimuli were normal in 7 patients and mildly subnormal in 2. Six patients (67%) had foveal ellipsoid zone disruption, of which 1 had a hyporeflective zone. Four patients (44%) had foveal hypoplasia. The average total retinal thicknesses of the macula and fovea in the patients with achromatopsia were 14% and 17% thinner than in the control participants (P < .001 and P = .001), which was mostly due to the outer retina that was 18% and 26% thinner than in control participants (both P < .001), respectively. Genetic testing revealed a common homozygous mutation in CNGB3 in 5 patients with complete achromatopsia and heterozygous mutations in CNGA3 in 2 patients with incomplete achromatopsia. The youngest and worst-affected patient harbored compound heterozygous mutations in CNGB3 and a single mutation in CNGA3. CONCLUSIONS AND RELEVANCEIn early childhood, there is a spectrum of foveal pathology that is milder than reported in older individuals with achromatopsia, which suggests the need for early therapeutic intervention. Neither age alone nor genotype alone predicts the degree of photoreceptor loss or preservation. Thus, in anticipation of future gene therapy trials in humans, we propose that handheld spectral-domain optical coherence tomography is an important tool for the early assessment and stratification of macular architecture in young children with achromatopsia.

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Section: Participantsmentioning

confidence: 99%

Retinal Morphology of Patients With Achromatopsia During Early Childhood

et al. 2014

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“…[13] Previous reports have demonstrated an approximately 50% reduction in scotopic ERG amplitudes as well as a 10% increase photopic single flash b-wave and 30Hz Flicker implicit time. [14] To account for this effect ERGs were compared to age matched controls also recorded under propofol sedation.…”

Section: Case Reportmentioning

confidence: 99%

Ophthalmic findings in an infant with phosphomannomutase deficiency

2014

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Introduction We present the ocular features including full-field electroretinography (ff-ERG) and spectral domain optical coherence tomography (SD-OCT) in a 14-month-old infant with congenital disorder of glycosylation type 1a (PMM2-CDG). An infant with failure to thrive, bilateral neurosensory hearing loss, cerebellar hypoplasia, and pericardial effusions was referred to ophthalmic genetics for evaluation. The patient had fix and follow vision, an intermittent esotropia, moderate myopia, a hypopigmented macula, and mild attenuation of the retinal vasculature. Electroretinography showed severe reduction in both rod and cone-dependent responses with a negative waveform pattern. Handheld SD-OCT revealed severe attenuation of the outer retina throughout the macula, but with preservation of outer retinal structures in the fovea. PMM2-CDG is a rare congenital disorder for which both ff-ERG and SD-OCT were useful in demonstrating early changes of retinal architecture and function.

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“…1 We report a histologically unusual UM in a child that was confirmed by the presence of a GNAQ somatic mutation.…”

Section: Mutation Of Gnaq In a Cytologically Unusual Choroidal Melanomentioning

confidence: 85%

“…Electroretinograms (ERGs) were recorded under propofol sedation as described previously and according to International Society for Clinical Electrophysiology of Vision standards. 1 Spectraldomain ocular coherence tomographic (SD-OCT) images were obtained with the Bioptigen Envisu R2200-HR OCT.…”

Section: Interval Spectral-domain Optical Coherence Tomography and Elmentioning

confidence: 99%

Interval Spectral-Domain Optical Coherence Tomography and Electrophysiology Findings in Neonatal Adrenoleukodystrophy

Courtney¹,

Pennesi

2013

JAMA Ophthalmol

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The ‘dark’ side of sedation: 12 years of office‐based pediatric deep sedation for electroretinography in the dark

Abstract: We demonstrated that pediatric sedation is a safe, efficient, and a cost-effective method for measuring ERGs in a challenging environment. The incidence of minor complications is low and appears similar to other studies of propofol sedation.

Cited by 11 publications

References 12 publications

Retinal Morphology of Patients With Achromatopsia During Early Childhood

Retinal Morphology of Patients With Achromatopsia During Early Childhood

Ophthalmic findings in an infant with phosphomannomutase deficiency

Interval Spectral-Domain Optical Coherence Tomography and Electrophysiology Findings in Neonatal Adrenoleukodystrophy

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