ISCEV guide to visual electrodiagnostic procedures

Robson, Anthony G.; Nilsson, Josefin; Li, Shiying; Jalali, Subhadra; Fulton, Anne B.; Tormene, A; Holder, Graham E.; Brodie, Scott E.

doi:10.1007/s10633-017-9621-y

Cited by 287 publications

(288 citation statements)

References 7 publications

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“…For the electrophysiologic assessments, full-field electroretinograms (ERGs) were recorded under both scotopic and photopic conditions in accordance with the protocol of the International Society of Clinical Electrophysiology of Vision. 34 ERGs were recorded with the LE4000 device (Tomey Corporation, Aichi, Japan) or the UTAS device (LKC Technologies, Gaitherburg, MD, USA). Macular function was evaluated by either multifocal ERGs (mfERGs; VERIS Science and VERIS Clinic; EDI, San Mateo, CA, USA) or focal macular ERGs (ER-80; Kowa Company, Tokyo, Japan).…”

Section: Electrophysiologic Assessmentsmentioning

confidence: 99%

Phenotypical Characteristics ofPOC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

Kameya

Fujinami

Ueno

et al. 2019

Invest. Ophthalmol. Vis. Sci.

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Citation: Kameya S, Fujinami K, Ueno S, et al. Phenotypical characteristics of POC1B-associated retinopathy in Japanese cohort: cone dystrophy with normal funduscopic appearance. Invest Ophthalmol Vis Sci. 2019;60:3432-3446. https://doi.org/ 10.1167/iovs.19-26650 PURPOSE. Cone/cone-rod dystrophy is a large group of retinal disorders with both phonotypic and genetic heterogeneity. The purpose of this study was to characterize the phenotype of eight patients from seven families harboring POC1B mutations in a cohort of the Japan Eye Genetics Consortium (JEGC). METHODS.Whole-exome sequencing with targeted analyses identified homozygous or compound heterozygous mutations of the POC1B gene in 7 of 548 families in the JEGC database. Ophthalmologic examinations including the best-corrected visual acuity, perimetry, fundus photography, fundus autofluorescence imaging, optical coherence tomography, and full-field and multifocal electroretinography (ERGs) were performed.RESULTS. There were four men and four women whose median age at the onset of symptoms was 15.6 years (range, 6-23 years) and that at the time of examination was 40.3 years (range, 22-67 years). The best-corrected visual acuity ranged from À0.08 to 1.52 logMAR units. The funduscopic appearance was normal in all the cases except in one case with faint mottling in the fovea. Optical coherence tomography revealed an absence of the interdigitation zone and blurred ellipsoid zone in the posterior pole, but the foveal structures were preserved in three cases. The full-field photopic ERGs were reduced or extinguished with normal scotopic responses. The central responses of the multifocal ERGs were preserved in two cases. The diagnosis was either generalized cone dystrophy in five cases or cone dystrophy with foveal sparing in three cases.CONCLUSIONS. Generalized or peripheral cone dystrophy with normal funduscopic appearance is the representative phenotype of POC1B-associated retinopathy in our cohort.Whole-exome sequencing and targeted sequence analyses of the 301 retinal disease-associated genes (including genes of Retnet; https://sph.uth.edu/retnet/, in the public domain) were done according to the published protocol of the NISO. 35 Paired-end sequence library construction and exome capturing Downloaded from iovs.arvojournals.org on 07/08/2020 FIGURE 8. Horizontal and vertical OCT images of the left eye of patient 1 recorded at the age 35 years (A) and 39 years (B).Longitudinal reflectivity profiles at the fovea are shown below the OCT images. EZ and IZ are preserved in the fovea at the age 35 years but they are blurred at the age of 39 years. The reflectivity profiles show small peaks of IZ at the age 35 years but not at 39 years. The reflectance intensity of the IZ relative to the RPE was 0.82 at the age 35 years and 0.63 at the age 39 years. The reflectance intensity of the EZ relative to the RPE was 0.86 at the age 35 years and 0.77 at the age 39 years. The reflectivity was averaged in width as indicated by the yellow lines. ILM, internal limiting membra...

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Section: Electrophysiologic Assessmentsmentioning

confidence: 99%

Phenotypical Characteristics ofPOC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

Kameya

Fujinami

Ueno

et al. 2019

Invest. Ophthalmol. Vis. Sci.

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“…The abnormal ERG in the children with CME therefore indicates a global retinal dysfunction and not only macular dysfunction (Robson et al. ).…”

Section: Discussionmentioning

confidence: 99%

“…The prolonged b‐wave implicit time and the abnormal 30 Hz flicker response indicate an abnormal inner retinal transmission dysfunction from photoreceptors to bipolar cells (Robson et al. ). This abnormal signal transmission could be caused by an increased interneuronal distance secondary to an increased permeability of the blood–retinal barrier, caused by inflammation (Noma et al.…”

Section: Discussionmentioning

confidence: 99%

“…All eyes with CME had abnormal cone ERGs. Although cones are densely packed in the macula (Osterberg 1935;Jonas et al 1992), macular dysfunction alone contributes only minimally to the full-field cone (Dawson & Maida 1984;Khan et al 2018;Robson et al 2018). The abnormal ERG in the children with CME therefore indicates a global retinal dysfunction and not only macular dysfunction .…”

Section: Discussionmentioning

confidence: 99%

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Electroretinogram abnormalities in nonanterior childhood uveitis

Brouwer

Genderen

Wit

et al. 2018

Acta Ophthalmologica

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The ERG is frequently affected in childhood uveitis indicating a global retinal dysfunction. ERG abnormalities seem to be associated with a more severe posterior segment inflammation and a younger age. If an association between ERG abnormalities and long-term visual outcome can be made in the future, these early ERG findings during the course of childhood uveitis have significance for treatment strategies.

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“…Drusenoïd-like changes could also be observed, more obvious in the second patient (Figure 3A,B (Fig. 3)) [17]. …”

Section: Case Descriptionmentioning

confidence: 99%

Ophthalmological and electrophysiological findings in monozygotic twin sisters with phosphomannomutase 2 deficiency (PMM2-CDG) over a period of 37 years

Hees

Jaeken

Meersseman

et al. 2019

GMS Ophthalmology Cases; 9:Doc37

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ISCEV guide to visual electrodiagnostic procedures

Cited by 287 publications

References 7 publications

Phenotypical Characteristics ofPOC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

Phenotypical Characteristics ofPOC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

Electroretinogram abnormalities in nonanterior childhood uveitis

Ophthalmological and electrophysiological findings in monozygotic twin sisters with phosphomannomutase 2 deficiency (PMM2-CDG) over a period of 37 years

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